EUROPEAN HUMAN GENETICS CONFERENCE 2018 · European Human Genetics Conference 2021 Glasgow, United...

THE EUROPEAN SOCIETY OF HUMAN GENETICS

PROGRAMME

EUROPEAN HUMAN GENETICS CONFERENCE 2018in conjunction with the European Meeting on Psychosocial Aspects of GeneticsMiCo | Milan - Italy | June 16 - 19

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2 ESHG 2018 | Milan, Italy | www.eshg.org

GENERAL FLOORPLAN

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3ESHG 2018 | Milan, Italy | www.eshg.org


PROGRAMME

EUROPEAN HUMAN GENETICS CONFERENCE 2018in conjunction with the European Meeting on Psychosocial Aspects of Genetics

MiCo | Milan - Italy | June 16 - 19


GENERAL TABLE OF CONTENTSG

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GeneralFloorplan 2Welcoming Address 5Committees - Board - Organisation 6Acknowledgements 7Future European Human Genetics Conferences 7CME Credits 7Get the most out of the ESHG 2018 8Session Type Descriptions 9

Programme at a Glance - Saturday 10Programme at a Glance - Sunday 11Programme at a Glance - Monday 12Programme at a Glance - Tuesday 13

Poster Topics 14Poster Topics - Technical Information 14

ESHG Scientific ProgrammeSaturday, June 16 15Sunday, June 17 21Monday, June 18 29Tuesday, June 19 37

Programme InformationSponsored Session, Saturday, June 16 44Corporate Satellites, Saturday, June 16 - Monday, June 18 45Business and Ancillary Meetings 54ESHG Award & Mendel Lectures 55ESHG Award Lecturer Interview 56Mendel Lecturer Interview 57Young Investigator Award Candidates 58Poster Award Finalists 61

EMPAG Scientific ProgrammeSaturday, June 16 64Sunday, June 17 66Monday, June 18 68Tuesday, June 19 69

InformationGeneral Information 72Registration fees 75Networking Events 76List of Exhibitors 76Exhibition Plan 77Exhibition Information (see the Exhibition Catalouge for more information) 78


GENERAL WELCOMING ADDRESSG

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Dear Colleagues and Friends,

On behalf of the board of the European Society of Human Genetics, I would like to cordially welcome you to the European Human Genetics Conference 2018, in Milan, Italy

The ESHG is pleased to return to Milan and looks forward to the familiarity of old friends and places as well as to meeting new colleagues and making new collaborations

The excellent programme committee selected the best speakers and presentations which together with other highlights will ensure that the 2018 conference will continue to build on the success of the 50th anniversary conference The ESHG is taking the first step for (hopefully) the next 50 years and delivering a conference showcasing the latest findings in the field of human genetics, both basic and applied The conference is held in conjunction with the European Meeting on the Psychosocial Aspects of Genetics, emphasising the multidisciplinary and international remit of the Society

Milan, known as the industrial capital of Italy, also treasures a notable artistic as well as scientific tradition Just think of Leonardo da Vinci, the visionary genius, author of the Codex Atlanticus and of the Last Supper, that you will be able to admire in the Biblioteca Ambrosiana and in the Refectory of S Maria delle Grazie, respectively In that tradition, Milan is today the place of many universities as well as a host of research institutes, providing the right climate for an international scientific meeting, such as the ESHG Conference

We are very much looking forward to an exciting and inspirational meeting

Christine Patch President European Society of Human Genetics

Christine Patch, President European Society of Human Genetics

WELCOME

EMPAG Welcome

On the behalf of the Scientific Programme Committee, we are delighted to welcome you to the 16th European Meeting on Psychosocial Aspects of Genetics, the 9th EMPAG held concurrently with the European Human Genetics Conference Here, we would like to thank ESHG for their help and support in planning and organising this meeting

Our first meeting was held in 1988 in Groningen and since 2002 we have joined ESHG every two years, and our partnership is becoming stronger and stronger

From the beginning till now the aim of these meetings is to provide a forum for the discussion of psychological and social aspects of practice in the rapidly developing field of clinical genetics Considering the growing of complexity in the clinical setting, we recently chose to expand our meeting to encompass ethical and legal issues related to genetics

Previous EMPAG meetings have attracted practitioners and researchers from Europe and beyond

We hope that this proves to be another very stimulating scientific meeting and that you will have an enjoyable stay here in Milan

Elisabetta Razzaboni & Sam Riedijk EMPAG Co-chairs

Elisabetta Razzaboni & Sam Riedijk EMPAG Co-chairs


GENERAL COMMITTEES - BOARD - ORGANISATIONG

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European Society of Human Genetics

Executive Board 2017-2018 Scientific Programme Committee

PresidentChrstine Patch, UK

President-ElectGunnar Houge, NO

Vice-PresidentOlaf Riess, DE

Secretary-GeneralKarin Writzl, SI

Deputy Secretary-GeneralCarla Oliveira, PT

TreasurerAndrew Read, UK

Executive OfficerJerome del Picchia, AT

EMPAG SPC Co-ChairsElisabetta Razzaboni, ITSam Riedijk, NL

ChairJoris Veltman, UK

MembersYasemin Alanay, TRAlfredo Brusco, ITValerie Cormier-Daire, FRJose Luis Costa, PTDomenico Coviello, ITYanick Crow, UKVita Dolzan, SIFrancesca Forzano, UKBrunella Franco, ITLude Franke, NLMaurizio Genuardi, ITMartin Kircher, DEMaris Laan, EE

Conxi Lazaro, ESLucia Migliore, ITCarla Oliveira, PTLucy Raymond, UKAlexandre Reymond, CHSamuli Ripatti, FIMaria Jesus Sobrido, ESMalte Spielmann, USZeynep Tümer, DKEnza Maria Valente, ITThierry Voet, BEKarin Writzl, SI

Annual Meetings Committee 2017-2018

PresidentAndrew Read, UK

MembersGunnar Houge, NOCarla Oliveira, PTChristine Patch, UKOlaf Riess, DEKarin Writzl, SI

ObserversJerome del Picchia, ATJantie de Roos, NLKristina Theuerer-Libova, ATFlora van Laer, NL

Board Members Liaison Members

Kristiina Aittomäki, FIMarta Bertoli, UKOlaf Bodamer, USIsabella Ceccherini, ITAngus John Clarke, UKJill Clayton-Smith, UKJohan den Dunnen, NLMunis Dundar, TRFrancesca Forzano, UKChristian Gilissen, NLKinga Hadzsiev, HUEllen Heitzer, AT

Robert Hofstra, NLBart L Loeys, BEJulie McGaughran, AUPhilippos Patsalis, CYDjana Plaseska-Karanfilska, MKTrine E Prescott, NOInga Prokopenko, UKFeliciano Ramos, ESAndré Reis, DEZeynep Tümer, DKHilde Van Esch, BEReiner A Veitia, FR

Han Brunner, NLChristophe Cordier, CHMartina Cornel, NLHelena Kääriäinen, FIThomas Liehr, DEMilan Macek, CZBela Melegh, HUHans Scheffer, NLAngus Clarke, UKGert Jan van Ommen, NLJoris Veltman, UK

ESHG Office

European Society of Human GeneticsAndrea Robinson

c/o Vienna Medical AcademyAlser Strasse 4, 1090 Vienna, ATwww eshg org

T: +43 1 405 13 83 35F: +43 1 407 82 74E: office@eshg org, membership@eshg org

European Human Genetics Conference 2018

Conference Organisation and Abstract ManagementESHG/EMPAG 2018 Congress OfficeWiener Medizinische Akademie GmbHKristina Theuerer-LibovaAlser Strasse 4, 1090 Vienna, ATT: +43 1 405 13 83 11F: +43 1 407 82 74E: conference@eshg orgwww medacad org

Exhibition, Sponsoring and Corporate SatellitesROSE INTERNATIONALExhibition Management and Congress Consultancy bvJantie de Roos, Flora van LaerP O Box 93260 2509 AG The Hague, NLT: +31 70 383 8901F: +31 70 381 8936E: eshg@rose-international comwww rose-international com

Hotel AccommodationMiCo dmcMs Mariarosaria CavaliereP le Carlo Magno 1 - 20149 Milan, ITT: +39 02 872 550 50E: ESHG2018 hotel@micodmc it

http://www.eshg.org

mailto:[email protected]



http://www.medacad.org


http://www.rose-international.com



GENERAL ACKNOWLEDGEMENTS - FUTURE MEETINGSG

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The European Human Genetics Conference gratefully acknowledges the support of the following companies (list correct as per date of printing):

Future European Human Genetics Conferences

European Human Genetics Conference 2019Gothenburg, SwedenJune 15 – 18, 2019

European Human Genetics Conference 2020Berlin, GermanyJune 6 – 9, 2020

European Human Genetics Conference 2021Glasgow, United KingdomJune 12 – 15, 2021

European Human Genetics Conference 2022Vienna, AustriaJune 11 – 14, 2022

CME Credits

The European Society of Human Genetics is accredited by the European Accreditation Council for Continuing Medical Education (EACCME) to provide the following CME activity for medical specialists The EACCME is an institution of the European Union of Medical Specialists (UEMS), www uems net

The European Human Genetics Conference 2018 is designated for a maximum of 27 hours of European external CME credits. Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity

EACCME credits are recognized by the American Medical Association towards the Physician‘s Recognition Award (PRA) To convert EACCME it to AMA PRA category 1 credit, contact the AMA

Download the ESHG App!

https://2018.eshg.org/index.php/programme2018/conference-app/

10x GenomicsAgilent TechnologiesAstraZenecaAsuragenBD Life SciencesBlueprint GeneticsCanon BioMedicalCENTOGENECongenicaCovarisEnzo Life Sciences

EppendorfFabric GenomicsFace2GeneFLUIDIGMGE HealthcareIlluminaIntegrated DNA TechnologiesLGC GenomicsNanoString TechnologiesNew England BiolabsNIPD Genetics

PromegaQIAGENRoche Sequencing SolutionsSISTEMAS GENÓMICOSSOPHiA GENETICSSwift BiosciencesTheragenThermo Fisher ScientificTwist Bioscience

IMPORTANT NOTICE

Please note that taking pictures or filming during the sessions is forbidden (no matter if done with a camera or a mobile phone) Persons who will not observe this rule will be excluded from the session by the chairpersons

http://www.uems.net


GENERAL GET THE MOST OUT OF THE ESHG 2018G

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Get the most out of your ESHG Meeting!

We are glad to announce the following features which might contribute to your positive experience of the ESHG conference

The ESHG 2018 Congress App

Do you always want to be up-to-date? The ESHG Society App will guide you through the programme day by day or by session type, will make available profiles of speakers and delegates and help you to find exhibitors by name or by service provided Add papers or entire sessions to your mobile calendar, receive push messages with important reminders and give feedback on talks or sessions Available for iOS and Android in your App and Play Stores. Search for European Society of Human Genetics.

Young Investigators in Focus

A workshop (‘W03 Career development for scientific millennials) on Saturday aims directly at young investigators attending the conference Two new types of fellowships were allocated to young investigators from European and Non-European countries Over 100 fellowships for young investigators were allocated in 2018 You might also be interested to know, that the Scientific Programme Committee decided to have at least 30% of its members aged under 40 years Post-doc Young Investigator Award Winners of 2017 have been invited to co-chair a session at this year’s conference Have a look at the 2018 candidates online and from page 58 onwards

Commenting

Do you have a specific comment on the running presentation? To discuss with colleagues, know that many attendees will be using twitter with the hashtags #eshg2018 #sessionnumber (e g #eshg2018 #S01) For all sessions, remember to use the discussion microphones in aisles of the lecture halls.

e-Posters & Best Posters

For the second time, a number of posters will be presented as e-Posters at 20 e-poster stations on the balcony The list of available posters can be viewed on any of these screens From there, they can be selected for viewing Use the zoom-in, zoom-out function to focus on specific parts of the e-Posters and the navigation icons to browse though the multiple slide posters This year, the 28 Best Posters were selected for a short presentation (3 minutes) in two Concurrent Sessions – C10 on Sunday and C22 on Tuesday After the presentation of all posters, the authors and the audience will proceed to the electronic posters right below the lecture hall on the balcony for discussion with the authors for the remainder of the session The list of e-Posters is also available on www.eshg.org/e-posters.0.html.

Live streaming and on-demand webcast of selected sessions

All Educational Sessions will be available as webcast after the meeting So in case you are interested in a Symposium and a parallel Educational Session, no worries, you can watch it at home or whenever you have time As usual, the Plenaries on Tuesday as well as the ESHG-ASHG Building Bridges Session joint with EMPAG will be available as live webcast and as on-demand streaming after the conference The following sessions are planned to be available:- E1-E16- PL3, PL4 & PL5- S17Note that the actual availability of the talks depends on the consent of the speakers.

Live stream in the exhibition

The plenary lecture hall is equipped with a live transmission possibility to the Live area in the exhibition The programme of the Gold Room will be transmitted to this area during exhibition opening hours

Poster viewing with authors

Posters will be discussed in 4 different groups, at 10 15 – 11 15 hrs and 16 45 – 17 45 hrs both on Sunday and Monday to offer enough interaction between the authors and the audience All posters will remain on display from Saturday to Monday.


GENERAL SESSION TYPE DESCRIPTIONSG

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Plenary Sessions (PL1 - PL4)The plenary sessions are the most prestigious sessions of the congress These are exhaustive reviews of major subjects and state of the art techniques within the specialty, addressed to all participants Speakers in plenary sessions are invited and are among the most renowned in their field of expertise Plenary sessions are scheduled at “prime time” in the programme, unopposed to other activities in order to achieve maximal attendance Speaking time varies: 15 minutes for talks in PL2, 30 minutes in PL1, and 45 minutes in PL3 + PL4

Concurrent Symposia (S01 – S19)The symposia are sessions in which invited speakers share new results on a given topic with other researchers The aim is to reflect and compare data with other, perhaps contradictory, results and to discuss new hypotheses and concepts for further research with well established colleagues In every concurrent symposium three 30-minute lectures will be presented They provide an update and understanding of new developments and innovations in a certain area

Educational Sessions (E01 – E16)The Scientific Committee of the ESHG determines topics for these 90 minutes sessions which will best serve the educational needs of the attendees Particular care is taken to ensure that these sessions address basic issues and focus on the educational aspect These sessions are not intended for experts in the respective fields but are designed to give a general basic introduction to a particular topic

Concurrent Sessions (C01 – C23)The most notable and exciting work from all abstracts submitted to the conference will be honoured with an oral presentation in these sessions Presenters are expected to explain their work and answer questions from the audience Speaking time for concurrent session is 15 minutes including time for discussion Papers marked with an asterisk are candidates for the ESHG Young Investigator Awards

Poster Viewing with AuthorsPosters are numerically the major scientific presentations of the meeting Most attendees bring a poster showing data and progress with their personal research Posters offer an excellent opportunity for people interested in a particular topic to meet and exchange ideas and network with other researchers Posters should NOT be used to advertise a product or service Like a paper, a poster abstract should detail the focus of the presentation and the way(s) in which it contributes to the body of knowledge in its field Times marked “Poster Viewing with Authors” should be used for communication and interaction with the poster authors, who are requested to be at their posters at these times Posters will be on display throughout the conference for free poster viewing (Saturday-Monday) Posters bearing a rosette have received a high score during the peer review process and are considered the best posters submitted by young investigators They are the candidates for the ESHG poster awards

Workshops (W01 – W18)Workshops are sessions in which the speakers are expected to share their personal experience in a field, either clinical or basic with the audience These sessions are addressed to participants who wish to acquire practical knowledge on a specific subject, and therefore an interactive discussion during or at the end of the workshop is expected

Corporate Satellites (CS01-CS33)There are a number of company satellites planned within the main conference programme Sponsors are approved as reputable and relevant by the Scientific Programme Committee, but the detailed content of the presentations is proposed directly by the sponsors and under their responsibility Neither the ESHG nor the organisers have endorsed the content in any way

EMPAG Sessions (EPL, EBPS, ESY, EWS)Every other year, the ESHG holds its annual meeting in conjunction with the European Meeting on Psychosocial Aspects of Genetics, which has a special focus on Genetic Counsellors and Nurses in Plenaries Workshops and Educational Sessions, as well as joint ESHG-EMPAG Sessions ESHG attendees are welcome to attend the EMPAG sessions and viceversa


GENERAL PROGRAMME AT A GLANCE - SATURDAYG

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GENERAL PROGRAMME AT A GLANCE - SUNDAYG

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GENERAL POSTER TOPICS - TECHNICAL INFORMATIONG

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Poster Topics

P01 Reproductive Genetics/Prenatal Genetics P01 01 - P01 98P02 Sensory disorders (eye, ear, pain) P02 01 - P02 60P03 Internal organs & endocrinology (lung, kidney, liver, gastrointestinal) P03 01 - P03 46P04 Skeletal, connective tissue, ectodermal and skin disorders P04 01 - P04 91P05 Cardiovascular disorders P05 01 - P05 74P06 Metabolic and mitochondrial disorders P06 01 - P06 74P07 Immunology and hematopoietic system P07 01 - P07 18P08 Intellectual Disability P08 01 - P08 78P09 Neurogenetic and psychiatric disorders P09 001 - P09 156P10 Neuromuscular disorders P10 01 - P10 55P11 Multiple Malformation/Anomalies syndromes P11 001 - P11 103P12 Cancer genetics P12 001 - P12 216P13 Basic mechanisms in molecular and cytogenetics P13 01 - P13 33P14 New diagnostic approaches, technical aspects & quality control P14 001 - P14 107P15 Personalized/Predictive Medicine and Pharmacogenomics P15 01 - P15 50P16 Omics/Bioinformatics P16 01 - P16 79P17 Epigenetics and Gene Regulation P17 01 - P17 66P18 Genetic epidemiology/Population genetics/Statistical methodology and evolutionary genetics P18 01 - P18 79P19 Genetic counselling/Education/public services P19 01 - P19 44P20 Psychological/Ethical/legal issues P20 01 - P20 16EMPAG Posters (sorted by topic) EMP1 01 - EMP1 79

Technical Information for Presenters of Posters

Posters will be on display from Saturday, June 16, (09 30 hrs) to Monday, June 18 (17 45 hrs)Poster mounting will be possible on: Saturday, June 16, from 09 30 hrs onwardsRemoval will be mandatory on: Groups A-C: Monday, June 18, 2018: 16 45 – 17 45 hrs (strict!)

Group D: Monday, June 18, 2018: 17 45 – 18 00 hrs (strict!)

You can find your poster board number in the author index of the Poster Listing available at the “Poster Help Desk” located at the entrance to the Exhibition Hall or at the two information points located in the poster area Access after Monday, June 18, 18.00 hrs is not possible! Safety regulations in place for the exhibition break-down do not allow participants in the hall after this time Please note that posters not removed until this time will be taken down by the staff of the conference centre They will be available for (unsupervised) pickup until Tuesday, 16 00 hrs, but will not be stored afterwards or sent to the authors after the meeting

Presence at PostersIn order to enable discussion and interaction with other participants, it is mandatory for you or one of your group members to be at your poster board between:Poster Group A: 10 15 – 11 15 hrs on Sunday, June 17 for posters with board numbers ending with “A” (e g P01 01A)Poster Group B: 16 45 – 17 45 hrs on Sunday, June 17 for posters with board numbers ending with “B” (e g P01 01B)Poster Group C: 10 15 – 11 15 hrs on Monday, June 18 for posters with board numbers ending with “C” (e g P01 01C)Poster Group D: 16 45 – 17 45 hrs on Monday, June 18 for posters with board numbers ending with “D” (e g P01 01D)

If it is not possible for you or one of your group members to be present during the above stated times, please leave a note on your poster board detailing the times when you will be present at the board

Technical Information for Presenters of E-Posters

Schedule for display and uploadElectronic Posters will be on display from Saturday, June 16 (09 30 hrs) to Tuesday, June 19 (14 30 hrs) The upload of the e-poster file will be possible in the Preview centre from Friday, June 15 from 14 00 hrs onwards (during conference times)

Technical Information for Presenters of Talks

• All rooms will be equipped with data projection • It is essential that you load and view your presentation in the Preview centre not later than 2 hours in advance (30 minutes for the first

morning talks) • The lecture rooms are exclusively equipped with Windows-PCs (no MACs) In case you absolutely need to use your own laptop or

notebook, please contact the Preview centre well in advance of your talk to check compatibility • Please bring a USB-key all formatted for Windows® (PC) You may want to carry a second key as a back-up in case

there is any insoluble technical problem • File Format: Microsoft® Power Point 2007™ (or newer) presentation formatted for Windows® (PC) only • Preferred Resolution: 1920 x 1080 pixel• Screen format: 16:9


SCIENTIFIC PROGRAMMESATURDAY, JUNE 16, 2018


PROGRAMME SATURDAY, JUNE 16G

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TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2 AMBER 7+8

08.00-

10.00

Sponsored Educational Session E01(See page 44 for details)

10.00 -

10.30Coffee break

Corporate Satellites(see page 45 for details)

10.30-

12.00

W01NGS in the Clinic - Mistakes and Quality AssuranceOrganisers:Gijs SantenHelger Yntema

E02Hereditary cancerChair:Jose L Costa

E03Resources for gene function analysisChair:Brunella Franco

E04Pharmacog-enomicsChair:Vita Dolzan

E05Bone Density: High and LowChair:Yasemin Alanay

W02Career Devel-opment for Scien-tific Millennials (How to present - How to network - How to enhance your career)Organiser:Roy Sheppard

W04Phenotype: genotype data collection and analysis for rare disease research: a hands-on workshop with the RD-Connect platformOrganisers:Conxi LazaroSergi Beltran

10.30 10.30-10.40 Introduction of the workshopGijs Santen

10.40-11.00 Easy to make bioin-formatics mistakesChristian Gilissen

11.00-11.20 Evaluation and validation of NGS pipelinesErika Souche

11.20-11.40 The value of External Quality Assessment (EQA)Weronika Gutowska-Ding

11.40-12.00 Discussion with panel Helger Yntema & Gijs Santen

E02.1From Li-Frau-meni syndrome to TP53-related inherited cancers: update on mo-lecular basis and clinical manage-mentThierry Frebourg, Rouen, France

E03.1Analysis of mammalian gene function through mouse pheno-typingDamian Smedley, London, United Kingdom

E04.1Preemptive phar-macogenomic testing for pre-venting adverse drug reactionsHenk-Jan Guchelaar, Leiden Genome Technology Ctr, Leiden, Netherlands

E05.1Decreased Bone Density: From Gene to PathwaysOuti Mäkitie, Helsinki, Finland

Do you brighten a room when you walk in, or when you leave?

What do your colleagues say about you behind your back?

How you are perceived has a profound effect on your ability to attract professional opportunities into your life

This thought-provoking and entertaining session will provide you with practical ideas, new skills and strategies to help you develop your career

10.30 Overview of the RD-Connect plat-formSergi Beltran

10.50 Hands-on workshop on the identification of rare disease caus-ing variants through the RD-connect Genome-Phenome analysis platformSteven Laurie, Leslie Matalonga, Sergi Beltran

11.45 Open discussion

11.15 E02.2Prostate Cancer Predisposition: Implications for Early Detection and TreatmentPeter Nelson, Seattle, WA, USA

E03.2An atlas of human long non-coding RNAsPiero Carninci, Yokohama, Japan

E04.2From pharmacog-enomics testing to point-of-care clinical decision supportMark Ratain, Chicago, IL, USA

E05.2New Perspectives in the Treatment of OsteopetrosisAnna Teti, L‘Aquila, Italy

12.00 -

14.00 Lunch break / Posters / ExhibitionCorporate Satellites(see page 45 for details)



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14.00-

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PL 0Welcoming Address- joint with EMPAGChairs: Christine Patch, Joris Veltman

Welcoming Addresses by Christine Patch Maurizio Genuardi Elisabetta Razzaboni President of the ESHG President of the Italian Society of Human Genetics Sam Riedijk Co-Chairs of the EMPAG SPC

14.30-

16.00

PL1Opening plenary lectureChairs: Christine Patch, Joris Veltman

14.30 PL1.1Leena Peltonen Lecturer - Complex GeneticsTuuli Lappalainen, New York, NY, USA

15.00 PL1.2Recent advances in mutational signatures of human cellsSerena Nik-Zainal, Cambridge, United Kingdom

15.30 PL1.3Cell by Cell: Organoid-based Modelling of Human Diseases at High ResolutionGiuseppe Testa, Milan, Italy

16.00-

16.30Fruit break / Posters / Exhibition

TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2 YELLOW 1+2

16.30-

18.00

C01Precision and Predictive MedicineChairs:Helena KääriäinenMassimo Gennarelli

C02Syndrome updates 1Chairs:Jill Clayton-SmithLara Rodriguez Laguna

C03Multi-omics 1Chairs:Robert HofstraTommaso Pippucci

C04Epigenetics and Gene RegulationChairs:Ellen Heitzer Anja Will

C05Neurological and Neuromuscular DisordersChairs:Hilde Van EschSvenja Schneider

C06Internal OrgansChairs:Isabella CeccheriniSabrina Giglio

16.30 C01.1Polygenic risk score can replace clin-ical risk scores in predicting diabetic complications and their response to therapyPavel Hamet, Dept of Med, Univ de Montréal, CRCHUM, Montréal, Canada

C02.1Lethal and non-lethal GLIS1 related malfor-mation syndromes.Paolo Prontera, Medical Genetics Unit, Univ and Hosp of Perugia, Perugia, Italy

C03.1Host genetics and microbial impact on plasma metabolites is linked to the cardi-ovascular riskAlexandra Zhernakova, Univ Medical Ctr Groningen, Groningen, Netherlands

C04.1A comprehensive study comparing on- and off-target levels of the most common forms of CRISPR/Cas9 guide RNAsAshley Jacobi, Integrated DNA Technologies, Coralville, IA, USA

C05.1SMPD4 loss-of-func-tion mutations cause cerebral malformations and arthrogryposis through endoplasmic reticulum stress and autophagy induced by dysregulation of sphin-golipid metabolismPamela Magini, Medical Genetics Unit, S.Orsola-Malpighi Univ Hosp, Bologna, Italy

C06.1Description Osteo-Oto-Hepa-to-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A geneLaurence Faivre, Dept de Genetique, Dijon, France

16.45 C01.2Returning cardio-vascular disease risk prediction back to individuals motivate beneficial lifestyle changes: Preliminary results from the GeneRISK-studyElisabeth Widen, Inst for Molecular Med Finland FIMM, Helsinki, Finland

C02.2The Study of Adults and Adolescents with Silver-Russell syn-drome: evaluating the adult phenotype of Sil-ver-Russell syndromeOluwakemi Lokulo-Sodipe, Human Development and Health, Faculty of Med, Univ of Southampton, Southampton, United Kingdom

C03.2Single-cell multi-om-ics sequencing to un-derstand the nature, extent and biology of cellular heterogenei-ty in breast cancerSebastiaan Vanuytven, KU Leuven, Leuven, Belgium

C04.2The MEF2C regu-latory network is disrupted in patients with Rett-like charac-teristicsSarah Vergult, Ctr for Medical Genetics Ghent, Ghent Univ, Ghent Univ Hosp, Ghent, Belgium

C05.2Resolving the diag-nostic odyssey for young patients with rare genetic muscle disease through the application of extend-ed exome sequencing technologiesKatherine Johnson, Newcastle Univ, Newcastle upon Tyne, United Kingdom

C06.2Targeted NGS in primary ciliary dyski-nesia: expanding mu-tation spectrum and novel dynein-related gene discoveryMahmoud R. Fassad, Genetics and Genomic Med, UCL GOS Inst of Child Health, London, United Kingdom

Presentations highlighted by a grey background are from Young Investigator Award finalists Institute, city and country refer to the affilitation of the presenting author



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cont. C01Precision and Predictive Medicine

C02Syndrome updates 1

C03Multi-omics 1

C04Epigenetics and Gene Regulation

C05Neurological and Neuromuscular Disorders

C06Internal Organs

17.00 C01.3Development of a point of carephar-macogenetic test to avoid antibiotic related hearing loss in neonatesJohn H. McDermott, Manchester Ctr for Genomic Med, Manchester, United Kingdom

C02.3Mutations in the homeobox gene GSX2 cause hypo-plasia/agenesis of the basal ganglia and the olfactory bulbs and diencephal-ic-mesencephalic junction dysplasiaRoberta De Mori, Neurogenetics Unit, IRCCS Santa Lucia Fndn, Rome, Italy

C03.3Unraveling the cis and trans genetic regulatory map in over 1,500 induced pluripotent stem-cells linesMarc Jan. Bonder, EMBL-EBI, Hinxton, United Kingdom

C04.3Personalized co-ex-pression networks reveal genetic risk factors that change the regulatory wiring of cells.Dylan H. de Vries, UMCG, Groningen, Netherlands

C05.3Cis D4Z4 repeat du-plications associated with facioscapulo-humeral muscular dystrophy type 2Richard J. Lemmers, Leiden Univ Medical Ctr, Leiden, Netherlands

C06.3Targeted exon skipping of a CEP290 mutation is able to rescue cellular and ciliary phenotypes in vitro and in vivoElisa Molinari, Inst of Genetic Med, Newcastle upon Tyne, United Kingdom

17.15 C01.4From genetics to therapy: successful one-year eculizumab treatment of pro-tein-losing enterop-athy caused by loss of the complement regulator CD55Hagit N. Baris, The Genetics Inst, Rambam Health Care Campus, Haifa, Israel

C02.4Loss of function mutations in TCF12 cause autosomal dominant Kallmann syndrome and reveal network-level interactions between causal lociErica E. Davis, Ctr for Human Disease Modeling, Duke Univ Medical Ctr, Durham, NC, USA

C03.4Integration of ~10,000 metabo-lite features with genotype data and immune phenotypes reveals genetic deter-minants and common regulatory modulesXiaojing Chu, Dept of Genetics, Univ of Groningen, Univ Medical Ctr Groningen, Groningen, Netherlands

C04.4Integrated analysis of transcriptional regu-lation in PLN R14del cardiomyopathyJiayi Pei, Dept of Cardiology, Div Heart and Lungs, Univ Medical Ctr Utrecht (UMCU), Utrecht, Netherlands

C05.4Novel biallelic mutations in VPS13D cause spastic ataxia and lead to mito-chondrial dysfunc-tionMarija Dulovic, Inst of Neurogenetics, Luebeck, Germany

C06.4Single cell RNA se-quencing of T cells in Crohn’s disease iden-tifies tissue specific drug targetsMichiel D. Voskuil, Univ Medical Ctr Groningen, Groningen, Netherlands

17.30 C01.5A pharmacogenetic study implicates NINJ2 in the response to IFNbeta in Multi-ple Sclerosis patientsFilippo Martinelli Boneschi, Dept of Biomedical Sciences for Health, Univ of Milan, Milan, Italy

C02.5Predictors of all-cause mortality in adults with 22q11.2 deletion syndromeAnne S. Bassett, Toronto General Hosp, Toronto, Canada

C03.5Plasma protein levels - a link between host microbiome, genetics, metabolites and disease-related phenotypesDaria V. Zhernakova, Dept of Genetics, Univ of Groningen, Univ Medical Ctr Groningen, Groningen, Netherlands

C04.5Alteration of HDAC9 exons that also function as enhanc-ers leads to TWIST1 haploinsufficiency that result in limb and craniofacial phenotypesRamon Y. Birnbaum, Ben Gurion Univ of the Negev, Beer Sheva, Israel

C05.5Mutations in the thioredoxin related gene TMX2 cause pri-mary microcephaly, polymicrogyria and severe neurodegen-eration with impaired mitochondrial energy metabolism.Rachel Schot, Dept of Clinical Genetics, ErasmusMC, Rotterdam, Netherlands

C06.5Mutations in BNC2 Lead to Autoso-mal-Dominant Lower Urinary Tract Obstruction (LUTO)Alina C. Hilger, Inst of Human Genetics, Univ of Bonn, Bonn, Germany

17.45 C01.6Genome-wide association study of Pandemrix-induced narcolepsy in Sweden - a possible role for glial cell line-derived neurotrophic factor (GDNF)Mia Wadelius, Uppsala Univ, Uppsala, Sweden

C02.6Pathogenesis and treatment of esophageal dilation and gastric epithe-lial hyperplasia in a mouse model for cardio-facio-cutane-ous syndromeShin-ichi Inoue, Dept of Medical Genetics, Tohoku Univ Sch of Med, Sendai, Japan

C03.6A high-resolution, genome-scale pro-moter ‘interactome’ in human T follicular helper cells impli-cates novel effector genes at SLE GWAS lociStruan F. Grant, Children’s Hosp of Philadelphia, Philadelphia, PA, USA

C04.6Treating Retinitis Pigmentosa with transcriptional-based therapeuticsEnrico M. Surace, TIGEM, Pozzuoli (NA), Ita, Italy

C05.6Genome wide detection of somatic mutations in human muscle stem cellsIrene Franco, Dept of Biosciences and Nutrition, Karolinska Inst, Huddinge, Sweden

C06.6Large-scale trans-ethnic ge-nome-wide associ-ation study reveals novel loci, causal mo-lecular mechanisms and effector genes for kidney functionAndrew P. Morris, Univ of Liverpool, Liverpool, United Kingdom

18.00 -

18.30Coffee break / Posters / Exhibition



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18.30-

20.00

PL2‘What’s New?’ Highlight SessionChairs: Christine Patch, Joris Veltman

18.30 PL2.1Genomic sequencing 15,000 healthy elderly individuals - Implications for clinical geneticsPaul Lacaze, Public Health Genomics, Monash Univ, Melbourne, Australia

18.45 PL2.2CRISPR-QTL mapping as a genome-wide association framework for cellular genetic screens of the noncoding genomeMolly Gasperini, Univ of Washington, Seattle, WA, USA

19.00 PL2.3Elimination of aneuploid cells in the early mammalian embryoShruti Singla, Univ of Cambridge, Cambridge, United Kingdom

19.15 PL2.4SLC10A7 mutations in human and mouse cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsJohanne Dubail, Inst Imagine INSERM U1163, Paris, France

19.30 PL2.5Local and global chromatin interactions are altered by large genomic deletions associated with human brain developmentAlexander E. Urban, Stanford Univ, Palo Alto, CA, USA

19.45 PL2.6miR-204 overexpression exerts a protective role in inherited retinal diseasesSandro Banfi, Telethon Inst of Genetics and Med (TIGEM), Pozzuoli, Italy

20.00 Late Breaking Abstracts 2018Please check the mobile app or the programme for updates.

20.30-

22.00Opening Networking Mixer (Outside Balcony and Main Entrance)

Presentations highlighted by a grey background are from Young Investigator Award finalists

Late Programme ChangesAll contents are up-to-date as per date of printing

For changes in the scientific programme which occurred after the printing deadline, please consult the website: https://2018.eshg.org/index.php/programme2018/late-programme-changes/

https://2018.eshg.org/index.php/programme2018/late-programme-changes/


SCIENTIFIC PROGRAMMESUNDAY, JUNE 17, 2018


PROGRAMME SUNDAY, JUNE 17G

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08.30-

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S01Prenatal Genetics - joint with EMPAGChairs:Sam RiedijkAntonio Percesepe

S02DNA damage and repair in cancerChairs:Maurizio GenuardiMaria Grazia Tibiletti

S03Genome Organi-zation and FunctionChairs:Alexandre ReymondGiorgio Casari

E06Statistics in Genetic Research and Diag-nosticsChair:Martin Kircher

E07OrganoidsChair:Francesca Forzano

S04Genetics of dizzinessChairs:Maria Jesus SobridoGiorgia Girotto

08.30 S01.1Prospective analysis of 20,000 cases reveals that the com-bined use of cell-free DNA counting and size measurement improves specificity of NIPTRossa Chiu, Hong Kong, Hong Kong

S02.1DNA damage and non coding RNA in cancer and ageingFabrizio d’Adda di Fagagna, Milan, Italy

S03.1Genome architecture: mechanisms of 3D chromatin foldingAna Pombo, Berlin, Germany

E06.1The Importance of Reproduci-ble Research in High-Throughput BiologyKeith Baggerly, Austin, TX, USA

E07.1Applications scenari-os of OrganoidsAndrea Manfrin, Lausanne, Switzerland

S04.1Molecular links between migraine, vestibulopathies and episodic ataxiasJoanna Jen, Los Angeles, CA, USA

09.00 S01.2Mommy and me se-quencing: incidental detection of maternal abnormalities via non-invasive prena-tal testingDiana Bianchi, Rockville, MD, USA

S02.2Differential DNA repair across human chromosomes shapes somatic mutation landscapesFran Supek, Barcelona, Spain

S03.2hoxDs, TADs and limb patterningGuillaume Andrey, Lausanne, Switzerland

S04.2Genetic basis of Meniere’s diseaseJose Antonio Lopez-Escamez, Granada, Spain

09.15 E06.2Statistics in genetic diagnosticsChloé-Agathe Azencott, Paris, France

E07.2On the self-engineer-ing of embryonic stem cells Alfonso Martinez-Arias, Cambridge, United Kingdom

09.30 S01.3Supporting informed choice for non-inva-sive prenatal testing in clinical practice: How well are we doing?Celine Lewis, London, United Kingdom

S02.3Functional Cancer GeneticsRené Bernards, Amsterdam, Netherlands

S03.3Transgenerational inheritance: The role of CTCF and 3D genome organi-zationVictor Corces, Emory Univ, Atlanta, GA, USA

S04.3An approach to restoring vestibular function?Andrew Forge, London, United Kingdom

10.00 -

10.15Coffee break / Poster viewing / Exhibition

10.15 -

11.15Poster Viewing with authors and coffee (Group A)

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14.30

C07NGS diagnosticsChairs:Hans SchefferMaria Iascone

C08Population GeneticsChairs:Inga ProkopenkoAlberto Piazza

C09Mendelian chromatin disordersChairs:André ReisGiuseppe Merla

C10Best Poster Session 1Chairs:Carla OliveiraJoris Veltman

C11Metabolic and Mito-chondrial DisordersChairs:Milan MacekNicola Brunetti-Pierri

C12Skin and BonesChairs:Marta BertoliMarco Castori

13.00 C07.1Reanalysis of un-solved WGS clinical cases from the NIHs undiagnosed diseas-es network (UDN)Elizabeth A. Worthey, HudsonAlpha institute, huntsville, AL, USA

C08.1Genome-wide gene-based analyses identifies ANK1 as a modulator of weight loss in obese patientsArmand Valsesia, Nestlé Inst of Health Sciences SA, Lausanne, Switzerland

C09.1Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndromeGeorgia Vasileiou, Inst of Human Genetics, Friedrich-Alexander-Univ Erlangen-Nürnberg, Erlangen, Germany

The 28 Best Posters were selected for a short presentation during two concurrent sessions

The poster authors will have 3 minutes each to present their most important findings in a lecture hall

After the presentation of all posters (approximately at 13 45 hrs), the authors and the audience will proceed to the electronic post-ers directly below the lecture hall for discus-sion with the authors for the remainder of the session

Please find the list of presentations in this session on page 25

C11.1De novo mutations in SLC25A24 cause a dis-order characterized by early aging, bone dysplasia, character-istic face, and early demise (Fontaine syndrome)Karin Writzl, Clinical Inst of Medical Genetics, Univ Medical Ctr, Ljubljana, Slovenia

C12.1Functional analysis of large numbers of non-coding variants from WGS studies by massively parallel cis-regulatory assays.Malte Spielmann, Univ of Washington, Seattle, WA, USA

13.15 C07.2Finding missing diagnoses in exome sequence dataCaroline F. Wright, Inst of Biomedical and Clinical Science, Exeter, United Kingdom

C08.2Insights from the largest genetic study of sexual orientationAndrea Ganna, Broad institute, Cambrdige, MA, USA

C09.2Novel neurodevel-opmental syndrome due to de novo mu-tations in chromatin remodeler CHD3 in 35 patientsLot Snijders Blok, Radboud Univ Medical Ctr, Nijmegen, Netherlands

C11.2miR-181a and miR-181b Downregula-tion Protects From Mitochondria-asso-ciated Neurodegen-eration by enhancing mitochondrial biogenesis and mito-phagySabrina Carrella, Telethon Inst of Genetics and Med-TIGEM, Pozzuoli, Italy

C12.2Identification of somatic activating PIK3CA mutations in patients with gen-eralized lymphatic anomalyLara Rodriguez Laguna, INGEMM-CIBERER-idiPAZ, Hosp Univrio La Paz, Madrid, Spain

13.30 C07.3Inferring compound heterozygotes from large-scale exome sequencing dataLaurent C. Francioli, Massachusetts General Hosp, Boston, MA, USA

C08.3Genome-wide association of bone mineral density in the UK Biobank full release identifies 301 novel loci and implicates DAAM2 in osteoporosisJohn A. Morris, McGill Univ, Montreal, Canada

C09.3Germline mutations on the histone H4 core cause a develop-mental syndrome by affecting DNA dam-age response and cell cycle controlGijs van Haaften, UMC Utrecht, Utrecht, Netherlands

C11.3The genetic land-scape of mitochon-drial disease: a study of 1116 exomesSarah L. Stenton, Inst of Human Genetics, Klinikum rechts der Isar, Technische Univ München, München, Germany

C12.3A mutant ATP6V1E1 zebrafish model reca-pitulates the human cutis laxa syndromeLore Pottie, Ctr for Medical Genetics, Gent, Belgium

13.45 C07.4Next Generation Chil-dren Project: Whole genome sequencing for rapid diagnosis of severely ill children in intensive careCourtney E. French, Univ of Cambridge, Cambridge, United Kingdom

C08.4Low pass genomes of 141,431 Chinese reveal patterns of viral infection, novel phenotypic associa-tions, and the genetic history of ChinaSiyang Liu*, BGI-Shenzhen, Shenzhen, China

C09.4Examination of the landscape of histone lysine methylases and demethylases in human developmen-tal disorders leads to identification of novel syndromesVíctor Faundes, Manchester Ctr for Genomic Med, Div of Evolution & Genomic Sciences, Sch of Biological Sciences, Faculty of Biology, Med and Health, Univ of Manchester, Manchester, United Kingdom

C11.4Novel genes associat-ed with severe mito-chondrial disordersParamasivam Arumugam, CCMB, Hyderabad, India

C12.4Recessive spon-dylocarpotarsal syndrome due to compound heterozy-gosity for variants in MYH3Stephen P. Robertson, Dunedin Sch of Med, Dunedin, New Zealand



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cont. C07NGS diagnostics

C08Population Genetics

C09Mendelian chromatin disorders

C10Best Poster Session 1

C11Metabolic and Mito-chondrial Disorders

C12Skin and Bones

14.00 C07.5Rapid Whole Genome Sequencing Improves Clinical Utility and Cost Effectiveness of Acutely Ill Children admitted to Neonatal Intensive Care UnitsShareef Nahas, Rady Children’s Inst for Genomic Med, San Diego, CA, USA

C08.5Imputation and de novo variant discovery from low-pass whole genome sequencing data for cost-effective and scalable trait mappingJoseph Pickrell, Gencove, Inc., New York, NY, USA

C09.5De novo germline variants in Histone 3 Family 3A (H3F3A) and Histone 3 Family 3B (H3F3B) associ-ated with a severe neurodegenerative disorder with unique functional effect dif-ferent from somatic mutationsElizabeth J. Bhoj, Children’s Hosp of Philadelphia, Philadelphia, PA, USA


The poster authors will have 3 minutes each to present their most important findings in a lecture hall

After the presentation of all posters (approximately at 13 45 hrs), the authors and the audience will proceed to the electronic post-ers directly below the lecture hall for discus-sion with the authors for the remainder of the session

Please find the list of presentations in this session on page 25

C11.5A homozygous two exon deletion in UQCRH: matching mouse and human phenotypeSilvia Vidali, Inst of Human Genetics, Technische Univ München, Munich, Germany

C12.5Mutations in the Epithelial Cadherin p120 Catenin Compl-exCause Mendelian Non-Syndromic Cleft Lip and PalateTony Roscioli, Univ of New South Wales, Randwick, Australia

14.15 C07.6Experiences of the Dutch diagnostic data share consor-tium; limits of the current 5-tier classifi-cation systemMarielle E. van Gijn, Dept of Genetics, Univ Medical Ctr Utrecht, Utrecht, Netherlands

C08.6Prioritising genes of interest from whole genome sequences to maximise diagnos-tic yield; the experi-ence of the 100,000 genomes projectHelen K. Brittain, Genomics England, London, United Kingdom

C09.6De novo mutations in the SET nuclear pro-to-oncogene (SET), encoding a compo-nent of the inhibitor of histone acetyl-transferases (INHAT) complex in patients with non-syndromic intellectual disability (ID)Servi J. Stevens, Dept of Clinical Genetics, Maastricht Univ Medical Ctr, Maastricht, Netherlands

C11.6Mutations in phos-phopantothenoyl-cystein synthetase (PPCS) cause dilated cardiomyopathyArcangela Iuso, Inst of Human Genetics, Technische Univ München, Munich, Germany

C12.6Somatic activating mutations in MAP2K1 cause melorheostosisJoan C. Marini, Section on Heritable Disorders of Bone and Extracellular Matrix, Natl Inst of Child Health and Human Development, Natl Insts of Health, Bethesda, MD, USA

14.30 -

15.00Fruit break / Poster viewing / Exhibition




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14.30

C10Best Poster Session 1Chairs: Carla Oliveira, Joris Veltman

P15.05AComprehensive prediction of responses to chemotherapies by biochemically-inspired machine learningPeter K. Rogan, Univ of Western Ontario, London, Canada

P15.27CEstablishment of tumor-derived organoids: an approach to personalized medicineMaría Ovejero-Sánchez, Molecular Med Unit. Dept of Med. Univ of Salamanca., Salamanca, Spain

P15.03CCorrection of splice mutation in COL6A1 gene with novel antisense oligonucleotides as prototype for other orphan geneticdiseasesDina Yagel, Metabolic Disease Unit, Edmond and Lily Safra Children’s Hosp, Sheba Medical Ctr, Tel-Hashomer, Ramat Gan, Israel

P15.11CModulation of cGMP and cAMP as a new therapeutic target for Fragile X SyndromeBarbara Bardoni, Inst de Pharmacologie Moléculaire et Cellulaire, Valbonne, France

P15.41A800 exomes for rare disease research: outcomes of the transnational BBMRI-LPC WES call in collaboration with EuroBioBank and RD-ConnectSteven Laurie, Ctr Nacional de Análisis Genómico (CNAG-CRG), Ctr for Genomic Regulation; Barcelona Inst of Science and Technology (BIST); Univ Pompeu Fabra (UPF), Barcelona, Spain

P17.06BInhibition of histone deacetylation up-regulates the repressed paternal allele of the imprinted Kcnk9 gene and improves the behavioral phenotype of a mouse model of Birk-Barel syndromeAlexis Cooper, Inst of Human Genetics, Univ Medical Ctr, Johannes Gutenberg Univ, Mainz, Germany

P11.017AEfficient CrispR/Cas9-based nucleotide editing to model cardiovascular anomalies of Cantú syndrome in zebrafishHelen I. Roessler, Dept of Genetics, Ctr for Molecular Med, Univ Medical Ctr Utrecht, Utrecht, Netherlands

P17.58BA CTCF- dependent chromatin interaction ensures robust enhancer - promoter communication at the Shh locus Christina Paliou, Max Planck for Molecular Genetics, Berlin, Germany

P17.22Bchromatin landscape of D4Z4 repeat interactome unveils a muscle atrophy signature in facioscapulohumeral dystrophyAlice Cortesi, Istituto Nazionale di Genetica Molecolare, Milan, Italy

P18.34BGenetic landscape of kidney function: results from a trans-ethnic genome-wide association meta-analysis of >750,000 individuals.Cristian Pattaro, Eurac Res, Inst for Biomedicine, Bolzano, Italy

P18.12DMulti-phenotype genome-wide meta-analysis of lipid levels and BMI in 64,736 Europeans suggests shared genetic architectureMarika Kaakinen, Imperial Coll London, London, United Kingdom

P18.25AThe eQTLs Catalog and LinDA browser: a platform for prioritising target genes of GWAS variantsMauro Pala, Istituto di Ricerca Genetica e Biomedica - Consiglio Nazionale delle Ricerche, Cagliari, Italy

P18.48DPredicting rare allele carriers from genotyping-array data using whole genome sequencing data in the Estonian populationTimo Tõnis Sikka, Univ of Tartu, Tartu, Estonia

P18.77ADeletions at 63 GWAS catalog loci based on genome-wide 1000 Genomes project CNV-tagging SNPsElena Loizidou, Imperial Coll London, London, United Kingdom

The 28 Best Posters were selected for a short presentation during two concurrent sessions In this session, best posters from topics 11, 15, 17 and 18 will be presented The poster authors will have 3 minutes each to present their most important findings in a lecture hall

After the presentation of all posters (approximately at 13 45 hrs), the authors and the audience will proceed to the electronic posters directly below the lecture hall for discussion with the authors for the remainder of the session



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15.00-

16.30

W05DysmorphologyOrganisers:Dian DonnaiJill Clayton-SmithSofia Douzgou

W06Pharmacog-enomic testing: gene panel, whole exome or whole genomes?Organisers:Vita DolzanWilliam Newman

W07Exome sequencing and variant inter-pretationOrganisers:Christian GilissenMalte Spielmann

W08UCSC Genome BrowserOrganiser:Robert Kuhn

W09Prenatal DiagnosisOrganisers:Ida VogelJoris Vermeesch

W10Hereditary cancer: hot topics in diagnostics, counselling and researchOrganisers:Conxi LazaroLaura ValleNicoline Hoogerbrugge

W11Recontacting in genetics - joint with EMPAGOrganisers:Elisabetta RazzaboniFrancesca Forzano


Once again we invite those working in the field of syndrome diagnosis to bring along short slide presentations of their distinctive unsolved cases or instructive and solved cases to the Dysmorphology workshop to be held at the ESHG in Milan

Presentations should include no more than 6 slides and you should aim to present your case in 3 minutes leaving some time for discussion

Your slides should cover the main points of the history, include good quality clinical photos of the most distinctive features and give results of investigations previously undertaken

Although we don’t necessarily expect every patient to have had whole exome or genome sequencing, cases must have undergone a reasonable investigative work-up before presenting

Speakers:Ellie McDonagh Genomics England, Queen Mary’s University London, UKMarjolein Kriek, Leiden University, Netherlands

This workshop will explore the resources available to scientists and healthcare profes-sionals to select genes that have clinical relevance in predicting adverse drug reactions and drug efficacy (phar-macogenomics)

There are varying levels of evidence that support clinical utility and these will be presented and examined

How confident should we be in a drug-gene relationship before we offer this as a clinical test?

There are many approaches to providing clinical pharmacogenetic testing – by panels, extracted from exome or genome sequence data or by biochemical assays

We will consider the current optimum approaches and how this may develop in the future

Although exome sequencing is now routinely available both for research and clinical purposes, the interpretation of identified variants remains a major challenge

In this workshop we will address the technical, statistical and biological considerations that need to be taken into account when interpreting variants from exome sequencing, and illustrate their importance by real-life examples

15.00-15.05 Welcome and opening remarksMalte Spielmann

15.05-15.25 Technical consid-erations for inter-preting variantsChristian Gilissen

15.25-15.45 Statistical considerations for interpreting variantsHilary Martin

15.45-16.05 Cases from the clinic – 1Anita Rauch

16.05-16.25 Cases from the clinic – 2Helger Yntema

16.25-16.30 Closing remarksMalte Spielmann

UCSC Genome Browser -- new features from an old friend

The UCSC Genome Browser has been used by researchers in genomics for 18 years

During that time it has evolved -- mainly by adding new features and the occasional mild overhaul

Our latest enhancements include features relevant to those interested in RNA-seq data -- either their own or those from the GTEx Consortium

The Browser offers the option of viewing exons only -- useful in both RNA-seq and whole-exome sequencing

The GTEx data are available as a direct view of tissue-specific and allele-specific expression across the entire genome from 53 tissues from 570 donors

It is also possible to format your own data into this barChart format

Presentations last 12 minutes and 3 minutes for questions The last 30 minutes of the session will be an interactive session on prenatal diagnostics of tomorrow with the audience and the speakers (consisting of an obstetrician, a molecular biologist, an anthropologist and lastly a clinical geneticist)

Genetic Associa-tions with Gesta-tional Duration and Spontaneous Preterm BirthB. Jacobsson

The diagnostic effect of the introduction of NIPT in a labo-ratory where a routine SNP array is offered to all pregnancies un-dergoing invasive testingM.I. Srebniak

‘...but we found something else’. A qualitative study of the interaction between pregnant couples and clinical geneti-cists following a susceptibility variance result.S. Lou

Fetal cells in ma-ternal bloodI. Vogel

30 min panel discussion on prenatal diagnostics of tomorrow

15.00 Introduction by the chairwomen

15.05 Germline or somatic tumour testing first to detect hereditary cancer?Prof. Marjolijn Ligtenberg, PhD, Molecular geneticist

15 20 Interactive discussion with workshop participants using smartphone voting system

15.30 Genetic counsel-ling: when somatic tumour testing and germline mutations meet. Prof. Rolf Sijmons, MD, PhD, Clinical geneticist


16.00 Research gaps in hereditary cancer: what to address in the years to come.Sir Prof. John Burn, MD, PhD, Clinical geneticist


16.25 Concluding remarks

Discussants:

EU survey on re-contacting and EU recommendations on recontactingProf. Peter Turnpenny

Recontacting in research practice and in BiobanksProf. Deborah Mascalzoni

Legal aspects of recontactingProf. Emmanuelle Rial-Sebbag

16.30 -


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17.45Poster Viewing with authors and coffee (Group B)



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S05Large-scale genetic studies in complex diseasesChairs:Samuli RipattiGiuseppe Matullo

S06Liquid biopsies in cancerChairs:Jose L CostaPaola Ghiorzo

S07Drug repurposing for treating genetic disordersChairs:Enza Maria ValentePaolo Gasparini

S08Microbiome and ViromeChairs:Malte SpielmannValeria Capra

E08Congenital vascu-lopathiesChair:Maria Jesus Sobrido

E09Iron in the brainChair:Yanick Crow

17.45 S05.1Genetic discovery and translation in Inflammatory Bowel DiseaseMark Daly, Boston, MA, USA

S06.1Tracking the Evolu-tion of Non-Small-Cell Lung CancerThomas Wurdinger, London, United Kingdom

S07.1Drug repurposing to improve cognitive defects in Down syndromeLaura Cancedda, Genova, Italy

S08.1Natural selection in humans and patho-gens: sequencing the next deadly virusKristian Andersen, La Jolla, CA, USA

E08.1Etiology of vascular malformations: A question of place and timingMiikka Vikkula, Brussels, Belgium

E09.1NBIA - an overviewBelén Perez Dueñas, Barcelona, Spain

18.15 S05.2Large-scale sequenc-ing studies in coro-nary artery diseaseHeribert Schunkert, Munich, Germany

S06.2Whole-genome se-quencing of plasma DNAMichael Speicher, Graz, Austria

S07.2Drug repurposing for breast cancer preven-tion in BRCA1-muta-tion carriersEmma Nolan, London, United Kingdom

S08.2Sequencing Ebola and Zika in real timeNicholas Loman, Birmingham, United Kingdom

18.30 E08.2Clinical management of vascular malfor-mationsLaurence Boon, Brussels, Belgium

E09.2NBIA - new anglesAgnès Rötig, Imagine Inst, Paris, France

18.45 S05.3Harnessing large-scale genetics and genomics to derive biological insights in type 2 diabetesMark McCarthy, Oxford, United Kingdom

S06.3Liquid Biopsies for Monitoring Temporal Genomic Heteroge-neityGiulia Siravegna, Torino, Italy

S07.3Online tools to find repurposed drugsJoel T. Dudley, New York, NY, USA

S08.3Whole-genome sequencing of patho-gens in the clinicJudith Breuer, London, United Kingdom

TIME YELLOW 1+2Corporate Satellites(see page 45 for details)

19.30 -

20.30

ESHG Membership MeetingAll ESHG members welcome!





SCIENTIFIC PROGRAMMEMONDAY, JUNE 18, 2018

Visit the ESHG booth #428 today and enrol as a member

or join online at www.eshg.org Gre

atVe

ctor

s com

By joining the ESHG, you will gain access to a range of benefits and an international network of specialists, who promote and encourage collaboration and exchange of information within Human and Medical Genetics and Genomics in Europe and the world.

Benefits of joining ESHG as a Member include:

• Subscription to the EJHG, the European Journal of Human Genetics• Discounted joint memberships with many national societies• Discounted registration fees for the European Congress of Human Genetics• Preferential treatment for fellowships at a number of courses• ESHG Newsletters• Access to the member area of the ESHG with the membership directory

You may choose between regular, online, collective or joint membership.

M E M B E RE S H G

BECOME AN

JOINESHG

TODAY!


PROGRAMME MONDAY, JUNE 18G

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S09New Genomic Tech-nologiesChairs:Martin KircherMarco Tartaglia

S10No pathogenic variant detected - What next?Chairs:Lucy RaymondMarco Seri

E10Genetics of infertilityChair:Maris Laan

S11Epigenetics of the brainChairs:Lucia MiglioreMonica Miozzo

S12Retinal diseasesChairs:Valerie Cormier-DaireSandro Banfi

E11Premature ageingChair:Karin Writzl

08.30 S09.1Applications and analysis methods for nanopore sequenc-ing dataJared Simpson, Toronto, Canada

S10.1Polygenic transmis-sion disequilibrium confirms that com-mon and rare varia-tion act additively to create risk for autism spectrum disordersElise Robinson, Broad Inst, Cambridge, MA, USA

E10.1Genetic basis of male reproductive disordersCsilla Krausz, Dept. of Experimental and Clinical Biomedical Sciences “Mario Serio”; Univ of Florence, Florence, Italy

S11.1Epigenetic mech-anisms regulating energy balanceRobert A. Waterland, Houston, TX, USA

S12.1Non-coding variation in inherited retinal dystrophiesElfride De Baere, Ghent, Belgium

E11.1The ageing processJan Hoeijmakers, Rotterdam, Netherlands

09.00 S09.2Whole organism lineage tracingAlexander F. Schier, Cambridge, MA, USA

S10.2Genetic diagno-sis of Mendelian Diorsorder via RNA sequencingHolger Prokisch, Munich, Germany

S11.2Epigenetic therapies for neurodegenera-tive and neuropsychi-atric diseasesAndre Fischer, Goettingen, Germany

S12.2Monosymptomatic and syndromic child-hood-onset severe retinal dystrophies: News and ViewsJean-Michel Rozet, Paris, France

09.15 E10.2Genetic basis of female reproductive disordersLawrence C. Layman, Augusta, GA, USA

E11.2Treatment strategies for premature agingBrian K. Kennedy, Singapore, Singapore09.30 S09.3

Genome-wide iden-tification of human non-coding variants that affect regulatory elementsBas van Steensel, Amsterdam, Netherlands

S10.3Pathogenic variants that alter protein code often disrupt splicingWilliam G. Fairbrother, Providence, RI, USA

S11.3Epigenetics of major psychiatric disease: the circadian perspectiveArturas Petronis, Toronto, Canada

S12.3Seeing disease through stem cells: using patient iPSC to understand disease mechanisms and test therapiesMichael Cheetham, London, United Kingdom

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11.15Poster Viewing with authors and coffee (Group C)

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C13Prenatal and Repro-ductive GeneticsChairs:Philippos PatsalisAntonio Novelli

C14Cancer geneticsChairs:Reiner A VeitiaJudith Grollemann

C15Syndrome updates 2Chairs:Julie McGaughranFiorella Gurrieri

C16Multi-omics 2Chairs:Trine PrescottMaria Giuseppina Miano

C17Intellectual disability 1Chairs:Kinga HadzsievMarcella Zollino

C18Cardiovascular disordersChairs:Bart L LoeysValeria Novelli

13.00 C13.1Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studiesMarjan M. Weiss, Dept of Clinical Genetics, VU Univ Medical Ctr, Amsterdam, Netherlands

C14.1Tet1 and Tdg suppress intestinal tumorigenesis by downregulating the inflammatory and immune responses in the ApcMinmouse modelRossella Tricarico, Cancer Epigenetics Program, Fox Chase Cancer Ctr, Philadelphia, PA, USA

C15.1The ARID1B spectrum: From non-syndromic intel-lectual disability to Coffin-Siris syndromeGijs W. Santen, Leiden Univ Medical Ctr, Leiden, Netherlands

C16.1High throughput characterization of genetic effects on DNA:protein binding and gene transcrip-tionFrancesca Luca, Wayne State Univ, Detroit, MI, USA

C17.1De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disabilitySébastien Küry, CHU de Nantes, Nantes, France

C18.1A novel murine mod-el for arrhythmogen-ic cardiomyopathy points to a pathogen-ic role of Wnt/b-cat-enin signaling and miRNA dysregulationMartina Calore, Dept of Cardiology, Faculty of Health, Med and Life Sciences, Maastricht Univ, Maastricht, Netherlands

13.15 C13.2Rapid Prenatal Diagnosis through Targeted Exome Se-quencing: A Cohort studyNatalie Chandler, North Thames NHS Regional Genetics Service, Great Ormond Street NHS Fndn, London, United Kingdom

C14.2Lynch syndrome fam-ilies with heritable constitutional epi-mutation reveal the diversity of genetic events associated with methylation of MLH1 promoterJulie Leclerc, Inserm UMR-S 1172, JPA Res Ctr, Lille Univ, and Lille Univ Hosp, Dept of Biochemistry and Molecular Biology, Lille, France

C15.2Novel gene and pathomechanism in Cornelia de Lange syndromeIlaria Parenti, Section for Functional Genetics at the Inst of Human Genetics, Univ of Lübeck, Lübeck, Germany

C16.2A pedigree-based es-timate of the human germline retrotrans-position rateJulie E. Feusier, Univ of Utah, Salt Lake City, UT, USA

C17.2Rotatin mutations impair bipolar mitot-ic spindle formation leading to a wide spectrum of brain malformationsLaura V. Vandervore, Neurogenetics Res Group, Vrije Univ Brussel, Brussels, Belgium

C18.2Large-scale me-ta-analysis of GWAS in over one million individuals identifies more than 1,000 novel independent variants associated with blood pressureEvangelos Evangelou, Dept of Hygiene and Epidemiology, Univ of Ioannina Medical Sch, Ioannina, Greece

13.30 C13.3Temporal dynamics of placental gene expressionMario Reiman, Inst of Biomedicine and Translational Med, Tartu, Estonia

C14.3Oxidative modifica-tion of cell-free DNA fragments promotes their penetration into stem and cancer cells and activates adaptive responseVasilina Sergeeva, FSBI “Res Ctr For Medical Genetics”, Moscow, Russian Federation

C15.3New models for human diseases from the International Mouse Phenotyping ConsortiumPilar Cacheiro, William Harvey Res Inst, Queen Mary Univ of London, London, United Kingdom

C16.3Multivariate analysis of immune pheno-types reveals novel genetic and context specific genetic factors for cytokine production capacityRaul Aguirre-Gamboa, Univ of Groningen, Univ Medical Ctr Groningen, Dept of Genetics, Groningen, Groningen, Netherlands

C17.3Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectu-al disability with ei-ther autistic features or cerebellar ataxiaXenia Latypova, Service de Génétique Médicale, CHU Nantes, Nantes, France

C18.3Whole genome sequencing improves genetic testing out-comes in hypertroph-ic cardiomyopathyRichard D. Bagnall, Centenary Inst, Sydney, Australia

13.45 C13.4Assessing the land-scape of selfish de novo mutations in human testesGeoffrey J. Maher, Univ of Oxford, Oxford, United Kingdom

C14.4Accurate functional classification of thou-sands of BRCA1 vari-ants with saturation genome editingGregory M. Findlay, Univ of Washington, Seattle, WA, USA

C15.4Thrombocytope-nia Microcephaly Syndrome - a novel phenotype asso-ciated with ACTB mutationsNataliya Di Donato, Inst for Clinical Genetics, TU Dresden, Dresden, Germany

C16.4Time informative markers to date ancient SkeletonsUmberto Esposito, Dept of Animal and Plant Sciences, Univ of Sheffield, Sheffield, United Kingdom

C17.4Description of novel intellectual disability genes involved in RNA metabolismFrancesca Mattioli, IGBMC, Illkirch, France

C18.4Germline loss-of-function mutations in EPHB4 cause a second form of capillary malforma-tion-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signalingNicole Revencu, Ctr for Human Genetics, Cliniques universitaires St-Luc (CUSL), Univ catholique de Louvain (UCL), Brussels, Belgium



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cont. C13Prenatal and Repro-ductive Genetics

C14Cancer genetics

C15Syndrome updates 2

C16Multi-omics 2

C17Intellectual disability 1

C18Cardiovascular disorders

14.00 C13.5X-chromosome exome sequencing in highly selected idio-pathic azoospermic patients: identifi-cation of novel and recurrent genetic factors for early sper-matogenic failureAntoni Riera-Escamilla, Andrology Dept, Fundació Puigvert, Univ Autònoma de Barcelona, IIB-Sant Pau, Barcelona, Spain

C14.5A whole-exome case-control study of soft-tissue sarcomaChad D. Huff, The Univ of Texas MD Anderson Cancer Ctr, Houston, TX, USA

C15.5The Genomic Autop-sy Study: using ge-nomics as an adjunct to standard autopsy to unlock the cause of complex fetal and neonatal presenta-tionsChristopher P. Barnett, Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hosp, North Adelaide, Australia

C16.5A homozygous loss-of-function mutation in C17orf62 causes chronic granuloma-tous diseaseGudny A. Arnadottir, deCODE genetics / Amgen, Reykjavik, Iceland

C17.5OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdele-tion syndromeUddin Mohammed, Mohammed Bin Rashid Univ of Med and Health Sciences, Dubai, United Arab Emirates

C18.5Association of mod-ifiers and other ge-netic factors explain Marfan syndrome clinical variabilityMelodie Aubart, LVTS INSERM U1148, Paris, France

14.15 C13.6Dysfunctional SEMA3G signalling underlies familiar hypogonadotropic hypogonadism & de-fective GnRH neuron migrationAnna Cariboni, Dept of Pharmacological and Biomolecular Sciences, Milan, Italy

C14.6Rare variants in the Aicardi-Goutières syndrome genes ADAR and RNASEH2B and a type I inter-feron signature in glioma and prostate carcinoma risk and tumorigenesisRuthild G. Weber, Hannover Medical Sch, Dept of Human Genetics, Hannover, Germany

C15.6Functional Dysregu-lation of CDC42 Caus-es Diverse Develop-mental PhenotypesFrancesca Pantaleoni, Ospedale Pediatrico bambino Gesù, Roma, Italy

C16.6The neurodevelop-mental 16p11.2 CNVs have, as yet over-looked, mirror effect on sexual develop-ment in humans and animal modelsKatrin Mannik, Ctr for Integrative Genomics, Univ of Lausanne, Lausanne, Switzerland

C17.6Abnormal Social and Cognitive Behavior is associated with Inherited Noncoding Mutations in Human Accelerated Regions (HARs)Ryan N. Doan, Boston Children’s Hosp, Boston, MA, USA

C18.6Nationwide study as-sociates atrial fibril-lation with titin-trun-cating variantsMorten S. Olesen, Rigshospitalet, Copenhagen, Denmark

14.30 -

15.00Fruit break / Poster viewing / Exhibition




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15.00-

16.30

W12Dysmorphology supported by next-generation phenotypingOrganisers:Peter KrawitzSofia Douzgou

W13Genomic Quiz - joint with EMPAGOrganisers:Joris VeltmanAlexandre Reymond

W14Copy Number Variant Inter-pretation and ClassificationOrganisers:Nicole de LeeuwConny van Ravenswaaij

W15Big dataOrganiser:Bertram Müller-MyhsokCesare Furlanello

W16Quality assurance in NGS - from data generation to data sharingOrganisers:Luca LovrecicAles Maver

W17Using Ensembl data and tools: a worked example Organiser:Erin Haskell

W18Community geneticsOrganisers:Martina CornelHeidi C Howard


The workshops will focus on but is not limited to complex cases with facial dysmorphic features and known diagnoses which are particularly educational and demonstrate new clinical information

Cases for presentation should be brought to the auditorium in the break before the workshop starts

Each presenter is asked to give a concise outline of their case and demonstrate the relevant features in a short (approximately 6 slides) PowerPoint presentation

As an additional input to the discussion we will provide and explain results from DeepGestalt (Face2Gene)

In an exciting new experiment, 2 teams as well as the audience will test their knowledge of the ESHG, genetics and Milan, using multiple choice questions, performance acts and audience participation, in an hopefully entertaining and educative quiz

Various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting will be discussed in this interactive session Data including multi-, intra- and intergenic CNVs detected by either genome wide array analysis or in Whole Exome Sequencing data will be presented

Rethinking Deep Learning for Omics Data Cesare Furlanello, Fondazione Bruno Kessler, Trento, Italy

Fast GPGPU ma-trix manipulations enabling combina-torial multi-omics analysis in large data-setsBeibei Jiang, Max Planck Institute of Psychiatry, Munich, Germany

From single-trait genomics to mul-ti-omics analyses: addressing the missing data issueInga Prokopenko, Imperial College London, London, UK

IMI-AETIONOMY: a Big Data approach inte-grating data and knowledge in graph modelsMartin Hofmann-Apitius, Fraunhofer Institute for Algorithms and Scientific Computing (SCAI), Sankt Augustin, Germany

How much Sanger validation is necessary in NGS diagnostics?Peter Bauer

Ensuring your NGS data quality - the EQA perspectiveSandi Deans

TBARoddy Walsh

Genomic Variant Discrepancy Res-olution: ClinGen’s Efforts to Improve the Quality of Genomic TestingChrista Lese Martin

15.00 Introduction to Ensembl and the Variant Effect Predictor (VEP)

15.15 Demonstration of using the VEP webtool

15.35 Hands on experi-mentation: Using Ensembl tools to identify variants of interest from a genetic screen.

15.55 Wrap-up and take-home messages

THEME: Somatic gene editing

Treatment of rare diseases using somatic gene ed-iting: the current status.Kirmo Wartiovaara

Legal/regulatory aspects: What is needed to launch genome editing in the clinic?Daniel Lim

Gene-Editing Clinical Trials: What The Sickle Cell Disease Com-munity ThinksVence L. Bonham

The role of ge-netic health care professionals: will clinical geneticists move to treat-ment?Heidi Howard

Panel discussion

16.30 -


16.45 -

17.45Poster Viewing with authors and coffee (Group D)



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17.45-

19.15

S13Genome editingChairs:Malte SpielmannAlessandra Renieri

S14Cellular heteroge-neity in health and diseaseChairs:Thierry VoetSilvia Russo

S15Understanding non-coding variantsChairs:Lude FrankeElisa Giorgio

E12Undiagnosed disease and matchmaking initiativesChair:Domenico Coviello

E13Brain abnormalities in fetal lifeChair:Enza Maria Valente

S16Human epigenome dynamicsChairs:Carla OliveiraAndrea Riccio

17.45 S13.1High-resolution interrogation of functional elements in the noncoding genomeNeville Sanjana, New York Genome Ctr & NYU, New York, NY, USA

S14.1Single-cell sequenc-ing to understand the biology of cellu-lar heterogeneity in health and diseaseStephen Quake, Stanford, CA, USA

S15.1Compensatory changes ge-nome-wideShamil Sunyaev, Cambridge, MA, USA

E12.1Undiagnosed Disease Program at NIH and the Undiagnosed Disease NetworkWilliam A. Gahl, Bethesda, MD, USA

E13.1Defects of the corpus callosumChristel Depienne, Paris, France

S16.1Single cell epigenom-ics to study heteroge-neity in development and ageingWolf Reik, Hinxton, United Kingdom

18.15 S13.2Reducing off-tar-gets in CRISPR/Cas9 genome editingAnna Cereseto, Ctr for Integrative Biology, Trento, Italy

S14.2Dissecting the spatio-temporal subcellular distribution of the human proteomeEmma Lundberg, Stockholm, Sweden

S15.2Non-coding repeat insertion in human diseaseIsabel Silveira, Porto, Portugal

S16.2Epigenetics, aging and age-related disordersMario F. Fraga, Cáncer Epigenetics Lab, CINN-CSIC, ISPA, IUOPA, Oviedo, Spain

18.30 E12.2A User Guide to MatchmakingHelen Firth, Cambridge, United Kingdom

E13.2Defects of the cere-bellumWilliam Dobyns, Seattle, WA, USA18.45 S13.3

Gene Therapy for Preventing Heritable DiseasesShoukhrat Mitalipov, Portland, OR, USA

S14.3Evolutionary selec-tion of oncogenic mutant clones in normal epitheliaPhilip Jones, Hinxton, United Kingdom

S15.3Title to be announced Speaker to be announced

S16.3Dynamics of epige-netic marks in early human developmentArne Klungland, Oslo, Norway

20.00 Networking Event (at own expense - ticket required)





SCIENTIFIC PROGRAMMETUESDAY, JUNE 19, 2018

ESHG 2019 MARK YOUR CALENDARS


EUROPEAN HUMAN GENETICS CONFERENCE 201952nd MeetingGothenburg - Sweden | June 15 - 18

https://2019.eshg.orgfacebook.com/eshg.org

@eshgsociety#eshg2019


PROGRAMME TUESDAY, JUNE 19G

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09.00-

10.30

S17ESHG-ASHG Building Bridges Debate: Germline genome editing - joint with EMPAGChairs:Joris VeltmanHeather MeffordSam Riedijk

E14Single-cell analysis technologiesChair:Thierry Voet

S18Regulatory sequence functions and elementsChairs:Lude FrankeEnrico Maria Surace

S19New nanotech-nologies: the DNA OrigamiChairs:Enza Maria ValenteAntonio Amoroso

E15Disorders of sexual developmentChair:Alfredo Brusco

E16Genetics with a BiteChair:Brunella Franco

09.00 S17.1CRISPR-Cas 9: Advances and ChallengesEmmanuelle Charpentier, Berlin, Germany

E14.1Single-cell multi-om-ics: interrogating multiple omic layers of the same single cellIain Macaulay, Norwich, United Kingdom

S18.1The gene expression consequences of mammalian regulato-ry evolutionCamille Berthelot, Paris, France

S19.1DNA Origami: building molecular tools out of DNABjorn Hogberg, Stockholm, Sweden

E15.1Disorders of sex de-velopment: genetics, diagnostics and clini-cal managementAndrew Sinclair, Melbourne, Australia

E16.1Genetics of early tooth development and dental disordersOphir D. Klein, Stanford, CA, USA

S17.2Human germline genome editing: the ASHG position statementKelly Ormond, Stanford, CA, USA

S17.3National Academy of Sciences consen-sus statement on genome editingLuigi Naldini, Milan, Italy

09.30 S17.4Societal opportuni-ties and challenges of genome editingAlta Charo, Madison, WI, USA

S18.2Regulatory principles governing enhancer function during ani-mal developmentEmma Farley, San Diego, CA, USA

S19.2DNA nanostructures as innovative vehi-cles for smart drug deliveryMauri A. Kostiainen, Aalto Univ, Espoo, Finland

Debate E14.2Sequencing single cells in situMats Nilsson, Uppsala, Sweden

E15.2Disorders of gonadal and adrenal devel-opment: nuclear receptor gene muta-tions and phenotypic heterogeneityJohn C. Achermann, London, United Kingdom

E16.2A targeted next-gen-eration sequenc-ing assay for the molecular diagnosis of genetic disorders with orodental involvementAgnes Bloch-Zupan, Strasbourg, France

10.00 S18.3Ultraconserved en-hancers are required for normal develop-mentDiane Dickel, Berkeley, CA, USA

S19.3Triplex-forming oligonucleotides: a third strand for DNA nanotechnologyDavid Rusling, Southampton, United Kingdom

10.30 -

11.00Coffee break (Auditorium Foyer, Yellow Foyer, Gold Foyer)



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TIME GOLD ROOM AUDITORIUM RED 1+2 BROWN 3 BLUE 1+2

11.00-

12.30

C19Advanced sequencing technologiesChairs:Johan den DunnenVincenzo Nigro

C20Intellectual Disability 2Chairs:Feliciamo RamosNorine Voisin

C21Statistical GeneticsChairs:Christian GilissenGiovanni Malerba

C22Best Poster Session 2Chairs:Martina CornelJoris Veltman

C23Sensory disordersChairs:Angus ClarkeMiriam Bauwens

11.00 C19.1Clinical experience with shallow whole genome sequencing as a detection method for Copy Number VariationsBjörn Menten, Ctr for Medical Genetics, Ghent Univ Hosp, De Pintelaan 185, B-9000 Ghent, Belgium, Ghent, Belgium

C20.1De novo missense vari-ants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in DrosophilaChristiane Zweier, Inst of Human Genetics, FAU Erlangen-Nürnberg, Erlangen, Germany

C21.1Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and dis-easesDo Ron, The Charles Bronfman Inst for Personalized Med, Icahn Sch of Med at Mount Sinai, New York, NY


The poster authors will have 3 minutes each to present their most important find-ings in a lecture hall

After the presentation of all posters (approximtely at 11 45 hrs), the authors and the audience will proceed to the electronic posters directly below the lecture hall for discussion with the authors for the remainder of the session

Please find the list of pres-entations in this session on page 42

C23.1Antisense therapy for a common corneal dystro-phy ameliorates TCF4re-peat expansion-mediated toxicityAlice E. Davidson, UCL Inst of Ophthalmology, London, United Kingdom

11.15 C19.2An international interlab-oratory study of complex variant detection by clinical genetic testsStephen Lincoln, Invitae, San Francisco, CA

C20.2Inborn de novo muta-tions in NFE2L2 cause a multisystem disorder in children and adolescents: From gene identification to therapy developmentSusann Diegmann, Dept of Pediatrics and Adolescent Med, Univ Medical Ctr Göttingen, Göttingen, Germany

C21.2Mendelian randomization combining GWAS and eQTL data reveals new loci, extensive pleiotropy and genetic determinants of complex and clinical traitsEleonora Porcu, Ctr for Integrative Genomics, Univ of Lausanne, Lausanne, Switzerland

C23.2NGS and animal model reveal SLC9A3R1 as a new gene involved in human age-related hearing loss (ARHL).Anna Morgan, Univ of Trieste, Trieste, Italy

11.30 C19.3A pipeline to detect repeat expansions from whole genome se-quencing in the 100,000 Genomes ProjectKristina Ibanez, Genomics England, London, United Kingdom

C20.3De novo mutations affect-ing PPP2CA, encoding the catalytic Cα subunit of PP2A, cause PP2A dys-function and a neurode-velopmental disorderSara Reynhout, Lab of Protein Phosphorylation & Proteomics, Dept. of Cellular & Molecular Med, Univ of Leuven (KU Leuven), Leuven, Belgium

C21.3Equivalence of LD-score regression and individu-al-level-data methodsRonald de Vlaming, Vrije Univ Amsterdam, Amsterdam, Netherlands

C23.3Congenital Macular Dystrophy is caused by non-coding duplications downstream of the IRXA clusterRaquel S. Silva, UCL Inst of Ophthalmology, London, United Kingdom

11.45 C19.4Amplification-free, CRISPR-Cas9 targeted enrichment and SMRT Sequencing of repeat-ex-pansion disease causative genomic regionsRalph Vogelsang, Pacific Biosciences, Menlo Park, CA, USA

C20.4Breaking TADs: an emerging pathogenic mechanism exemplified by Autosomal Dominant demyelinating LeukoDys-trophy (ADLD)Elisa Giorgio, Univ of Torino-Dep Medical Sciences, Torino, Italy

C21.4Regional heritability analysis of complex traits using haplotype blocks defined by natural recom-bination boundariesRichard F. Oppong, IEB, SBS, Univ of Edinburgh, Edinburgh, United Kingdom

C23.4Ectopic expression of GRHL2 due to non-coding mutations promotes cell state transition and causes Posterior Polymorphous Corneal Dystrophy 4Alison J. Hardcastle, UCL Inst of Ophthalmology, London, United Kingdom







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cont. C19Advanced sequencing technologies

C20Intellectual Disability 2

C21Statistical Genetics

C22Best Poster Session 2

C23Sensory disorders

12.00 C19.5Long-read sequencing - for detecting clinically rel-evant structural variationAlexander Hoischen, Dept of Human Genetics, Radboud university medical center, Nijmegen, Netherlands

C20.5AAV9- CRiSPR/Cas9 preclinical trial on patient-derived FOXG1 mutated cellsSusanna Croci, Medical Genetics, Univ of Siena, Siena, Italy

C21.5Associations of polygenic scores with lipid biomark-ers in diverse populationsKaroline Kuchenbaecker, Univ Coll London, London, United Kingdom


The poster authors will have 3 minutes each to present their most important find-ings in a lecture hall


Please find the list of pres-entations in this session on page 42

C23.5Whole genome sequenc-ing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Jean Muller, U1112, Strasbourg, France

12.15 C19.6A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with devel-opmental disordersSanna Gudmundsson, Immunology, Genetics, Pathology, Uppsala Univ, Uppsala, Sweden

C20.6A recurrent de novo PACS2 heterozygous missense variant causes neona-tal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis.Christel Thauvin-Robinet, Ctr de Génétique, FHU TRANSLAD, CHU de Dijon, Dijon, France

C21.6Two evidence of ongoing epistatic selection against genomic deletions in the human populationKonstantin Popadin, Ctr for Integrative Genomics, Univ of Lausanne, Lausanne, Switzerland

C23.6Biallelic loss-of-function variants in DNMBP cause congenital cataract and visual impairmentMuhammad Ansar, Dept of Genetic Med and Development, Univ of Geneva, Geneva, Switzerland

12.30-

13.30Lunch break (Auditorium Foyer, Gold Foyer)

TIME GOLD ROOM

13.30-

14.15

PL3Mendel LectureChairs: Joris Veltman, Gunnar Houge

13.30 PL3.1CRISPR-Cas9: How bacteria revolutionize genome engineeringEmmanuelle Charpentier, Berlin, GermanyLaudation by Gunnar Houge

14.15-

15.00

PL4ESHG Award LectureChairs: Joris Veltman, Gunnar Houge

15.00 PL4.1Causes and consequences of new mutationsMatthew Hurles, Hinxton, United KingdomLaudation by Joris Veltman

15.00-

15.45

PL5Award CeremonyChairs: Joris Veltman, Gunnar Houge

• ESHG Honorary Award to Helena KääriäinenLaudation by Gunnar Houge

• EJHG-SN Citation Awards

• ESHG Young Investigator Awards:

- ESHG Young Investigator Awards for Outstanding Science - Isabelle Oberlé Award for an outstanding presentation in the field of genetics of mental retardation - Lodewijk Sandkuijl Award for an outstanding presentation in the field of complex disease genetics and statistical genetics - Vienna Medical Academy Award for an outstanding presentation in translational genetic research/therapy of genetic diseases - Mia Neri Award for an outstanding presentation in the field of childhood cancer

• EMPAG Young Investigator Award for the best oral presentation

• ESHG Poster Awards in clinical research and basic science

• Closing remarks



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TIME BROWN 3

11.00-

12.30

C22Best Poster Session 2Chairs: Martina Cornel, Joris Veltman

P02.48CMutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaIlaria D’Atri, RILD Wellcome Wolfson Ctr, Royal Devon & Exeter NHS Fndn Trust, Univ of Exeter, Exeter, United Kingdom

P04.05ALoss of GPNMB causes autosomal recessive amyloidosis cutis dyschromica in humans Chi-Fan Yang, Academia Sinica, Taipei, Taiwan

P06.64DSubstrate reduction therapy approach for Sanfilippo C syndrome: use of iPSC and iPSC-derived neurons from patients as cellular modelsNoelia Benetó, Dept of Genetics, Microbiology and Statistics, Faculty of Biology, Univ of Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain

P06.72DMethylmalonic Aciduria cblB type cellular model: Hepatocyte differentiation from iPSC and pharmacological chaperones evaluationÁlvaro Briso-Montiano, Ctr de Biología Molecular (CBM) «Severo Ochoa», Ctr de Diagnóstico de Enfermedades Moleculares, Univ Autónoma de Madrid, Ciberer, Madrid, Spain

P06.35CBiallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndromeBenedetta Ruzzenente, Inst Imagine, Paris, France

P06.36DMutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiencyCharlotte L. Alston, Wellcome Ctr for Mitochondrial Res, Newcastle Univ, Newcastle upon Tyne, United Kingdom

P09.001ADissecting tissue-specific functional networks associated with 16p11.2 reciprocal genomic disorder using CRISPR engineered human iPS and mouse modelsMichael Talkowski, Ctr for Genomic Med and Dept of Neurology, Massachusetts General Hosp, Boston, MA, USA

P09.098BBiallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophyChiara Aiello, Bambino Gesu’ Children’s Hosp, Rome, Italy

P09.139CSINEUP, a synthetic antisense non-coding RNA-based technology, as possible new therapeutic tool for haploinsufficiency: Autism Spectrum Disorders (ASD) and Epilepsy as Proof-of-PrincipleFrancesca Di, Leva, Neuro Epigenetics laboratory, Ctr for Integrative Biology, Trento, Italy

P12.214BModeling human hereditary cancer syndromes using CRISPR/Cas9 mediated genome editing in Xenopus tropicalisKris Vleminckx, Dept of Biomedical Molecular Biology, Ghent, Belgium

P12.120DInterrogation of non-coding transcriptome in high-risk susceptibility to familiar cancerTomas Kirchhoff, New York Univ Sch of Med, New York, NY, USA

P19.24DGenetic counselling in hereditary diffuse gastric cancer: economical and psycho-social impactLuzia Garrido, Ctr Hospar São João, Porto, Portugal

P20.05ARaw Genomic Data: Storage, Access and SharingMahsa Shabani, KU Leuven, Leuven, Belgium

P16.40DExploring molecular interactions by clustering analysis of similarity scores from next-generation phenotyping approachesTzung-Chien Hsieh, Inst for Genomic Statistics and Bioinformatics, Bonn, Germany

The 28 Best Posters were selected for a short presentation during two concurrent sessions In this session, best posters from topics 2, 4, 6, 9, 12, 16, 19 and 20 will be presented The poster authors will have 3 minutes each to present their most important findings in a lecture hall



PROGRAMME INFORMATIONSPONSORED SESSIONCORPORATE SATELLITE MEETINGSBUSINESS MEETINGSYOUNG INVESTIGATOR AWARD CANDIDATESPOSTER AWARD CANDIDATES


PROGRAMME SPONSORED SESSION, Saturday, June 16G

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08.00-

10.00

E01Sponsored Educational Session E01NGS in rare disease, infections and cancerChair: Joris Veltman

08.00 E01.1Genome sequencing in prostate cancerMark Rubin, Bern, Switzerland

08.30 E01.2Genome sequencing in newborn screening and rare diseaseJonathan Berg, Chapel Hill, NC, USA

09.00 E01.3Genome sequencing in infectious diseasesMarc Lecuit, Paris, France

09.30 E01.4From germline to somatic mutations in neuronal diseaseJoseph G. Gleeson, San Diego, CA, USA

Saturday, June 16, 08.00 - 10.00 hrs


PROGRAMME CORPORATE SATELLITESG

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Overview

Company Room Stand # Page

Saturday, June 16, 10.00 - 11.30 hrsCS01 – Asuragen Brown 1 Stand # 482 46

Saturday, June 16, 12.15 - 13.45 hrsCS06 – Blueprint Genetics Brown 2 Stand # 426 46CS05 – Canon BioMedical Brown 1 Stand # 346 46CS08 – Congenica Amber 2 Stand # 332 46CS07 – Eppendorf Amber 1 Stand # 384 47

Sunday, June 17, 11.15 - 12.45 hrsCS10 – Agilent Technologies Brown 1 Stand # 310 47CS13 – Face2Gene Amber 2 Stand # 338 47CS12 – NIPD Genetics Amber 1 Stand # 382 47CS11 – QIAGEN Brown 2 Stand # 244 48CS09 – Thermo Fisher Scientific Amber 3+4 Stand # 350 48

Sunday, June 17, 15.00 - 16.30 hrsCS14 – AstraZeneca Amber 3+4 Stand # 549 48CS17 – Fabric Genomics Amber 1 Stand # 364 49CS16 – NanoString Technologies Brown 2 Stand # 264 49CS18 – New England Biolabs Amber 2 Stand # 454 49CS15 – SOPHiA GENETICS Brown 1 Stand # 528 50

Sunday, June 17, 19.15 - 20.45 hrsCS23 – GE Healthcare Amber 2 Stand # 262 50CS19 – Illumina Amber 3+4 Stand # 540 50CS22 – Integrated DNA Technologies Amber 1 Stand # 568 50

Monday, June 18, 11.15 - 12.45 hrsCS24 – Agilent Technologies Amber 3+4 Stand # 310 51CS25 – CENTOGENE Brown 1 Stand # 362 51CS26 – Roche Sequencing Solutions Brown 2 Stand # 230 51CS27 – SISTEMAS GENÓMICOS Amber 1 Stand # 578 52CS28 – Thermo Fisher Scientific Amber 2 Stand # 350 52

Monday, June 18, 15.00 - 16.30 hrsCS30 – 10x Genomics Brown 1 Stand # 436 52CS33 – Blueprint Genetics Amber 2 Stand # 426 53CS32 – FLUIDIGM Amber 1 Stand # 544 53CS31 – Twist Bioscience Brown 2 Stand # 266 53



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CS01 – Asuragen, Saturday, June 16, 2018, 10.00–11.30 hrs, Brown 1 Stand # 482

New Frontiers for AmplideX® Technology: Portfolio Expansion to New High Complexity Targets

Asuragen’s ability to create simple, accurate, and reliable solutions for complex gene targets is founded on its proven AmplideX PCR/CE FMR1 Kit, which revolutionized how FMR1 repeat expansions could be analyzed without the need for Southern blot Launched in 2009, the FMR1 kit introduced a paradigm shift in how these sequences could be characterized on commonly available laboratory equipment and helped pioneer a greater understanding of how these expansions correlate to fragile X syndrome, as well as associated disorders such as fragile X-associated primary ovarian insufficiency (FXPOI) and tremor/ataxia syndrome (FXTAS)

In 2018, Asuragen will extend the reach of the AmplideX technology to similarly challenging genomic targets for which routine analysis remains difficult and decentralized options remain unavailable In this workshop, the workflow simplicity, throughput scalability, and reliability of results of the AmplideX PCR/CE DMPK Kit, AmplideX PCR/CE SMN1 Kit, and AmplideX PCR/CE HTT Kit will be presented and discussed


CS06 – Blueprint Genetics, Saturday, June 16, 2018, 12.15–13.45 hrs, Brown 2 Stand # 426

Optimizing Genetic Testing to Maximize Diagnostic Yield and Value for the Patient

12 15–13 00 What should I know when selecting optimal testing for my patient? Tero-Pekka Alastalo, MD, PhD, Chief Medical Officer, President, Blueprint Genetics, San Francisco, US

13 00–13 45 Optimizing diagnostic yield in NGS-based genetic diagnostics Lucia Guidugli, PhD, Director of Molecular Diagnostics, Blueprint Genetics, San Francisco, US

Due to the rapid growth of genetic knowledge and the increasing number of available testing options, choosing the optimal test for your patient may seem like a daunting task Differences in NGS platforms, proprietary solutions, bioinformatics pipelines, and clinical interpretations can lead to significant variations in diagnostic yields This session seeks to equip clinicians with the necessary knowledge to confidently select the optimal test for their patients Key characteristics of high quality NGS-based genetic testing and a check list for choosing a patient’s ideal testing solution will be introduced Patient examples which demonstrate how to optimize genetic diagnostics to result in maximized diagnostic yield will be examined as well

Drop by booth #426 or visit blueprintgenetics com to learn more about the recent advances from Blueprint Genetics

CS05 – Canon BioMedical, Saturday, June 16, 2018, 12.15–13.45 hrs, Brown 1 Stand # 346

Tough Targets, Simple Genotyping — Fast and Easy Protocols to Determine SMN1 and SMN2 Copy Number and APOE Allele Identification

Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes These genes, that are associated with spinal muscular atrophy (SMA), only differ by a single nucleotide, which requires any copy number solution to have very high assay specificity

For researchers focused on Alzheimer’s disease, identifying their samples as APOE allele type E2, E3, or E4 is of the utmost importance Testing samples for APOE status can build a cohort that separates the low-risk E2 allele from the high-risk E4 allele

The Novallele™ copy number and genotyping assays are designed to give researchers a simple method to investigate difficult-to-analyze genetic changes The Novallele assays generate accurate data using a simple protocol that returns results in around an hour We will discuss the protocol in more detail, including scientific principles, assay workflows, and data analysis

Attend our session to learn how Canon BioMedical can help you with your research

The products mentioned are for Research Use Only Not for use in diagnostic procedures Nothing herein constitutes medical advice

CS08 – Congenica, Saturday, June 16, 2018, 12.15-13.45 hrs, Amber 2 Stand # 332

New Applications of Whole Genome Analysis in Rare Disease Diagnostics

Hear from 3 key members of world-leading institutions on their applications of WGS & analysis for diagnosis of rare disease Speakers will outline projects where whole genome analysis was applied in novel techniques for more comprehensive diagnoses, and the real-world applications of their project findings

Talks will include:

The UK PAGE Project: prenatal application of whole exomes and genomes. Ready for the clinic? Dom McMullan, FRCPath, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Streamlining WES analysis and interpretation: implementing a sequencer into Sapientia software workflow Yogen Patel, PhD, Congenica, Cambridge, UK

The NIHR BioResource experience: whole genome analysis of patients with rare bleeding and platelet disorders Karyn Megy, PhD, NIHR BioResource, University of Cambridge, Cambridge, UK



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CS07 – Eppendorf, Saturday, June 16, 2018, 12.15–13.45 hrs, Amber 1 Stand # 384

X ways to improve the quality of your NGS library prep results

Your speaker will be: Mr Marc-Manuel Hahn, Application Specialist at Eppendorf, Hamburg, Germany

Next-generation sequencing sample preparation is a labor-intensive process, which requires experience, precision and accuracy to generate high-quality NGS libraries The Eppendorf epMotion® can automate this pipetting-intensive protocol into a ready-to-run procedure with minimal user-interventions and setup time even for runs with low sample numbers To minimize programming time and get you up and running quickly, Eppendorf provides pre-optimized and manufacturer-qualified NGS reagent kit methods that will result in reproducible preparation of high-quality NGS libraries The sequencing results are comparable or better to those from manual preparation Trust in the Eppendorf epMotion to automate your NGS library preparation and eliminate the risk of human pipetting errors, provide reproducible results and increase overall productivity

Sunday, June 17, 11.15 - 12.45 hrs

CS10 – Agilent Technologies, Sunday, June 17, 2018, 11.15–12.45 hrs, Brown 1 Stand # 310

New Agilent Applications for Cancer and NIPD- overcoming challenges and expanding possibilities

Robust cost-effective Monogenic, Non-invasive Prenatal Diagnosis by Targeted Haplotyping and targeted cfDNA sequencing Prof. Wouter de Laat, Hubrecht Institute for Development Biology and Stem Cell Research-KNAW and University Medical Center Utrecht, the Netherlands With monogenic heritable diseases, background maternal cfDNA prohibits direct observation of maternally-inherited alleles We present how Monogenic Non-invasive prenatal diagnostics (MG-NIPD) is an affordable methodology for non-invasive diagnosis

Evaluation and comparison of BRCA MASTR Plus assay from Multiplicom for reliable detection of germline and somatic alterations Dr. Julie Vendrell, Laboratoire de Biologie des Tumeurs Solides, Département Pathologie et Onco-biologie, CHU de Montpellier, France To determine the best approach to implement in a clinical laboratory, we benchmarked BRCA MASTR Plus Dx with amplicon-based panels Implementation and preliminary results evaluating the new MASTR assay BRCA4 for germline samples will also be presented

Hospital La Fe, a complete NGS solution in a clinical research environment Dr. Angel Zuñiga, Clinical Genetics, Hospital Universitari i Politècnic la Fe, Valencia, Spain We are developing a complete workflow using Agilent NGS solutions to investigate mutations involved in several human diseases investigations using SureSelect QXT and Bravo for sample preparation, and discuss NGS data interpretation using Alissa Interpret for data interpretation

BRCA MASTR Plus Dx is For In Vitro Diagnostic Use SureSelect QXT is For Research Use Only Not for use in diagnostic procedures

CS13 – Face2Gene, Sunday, June 17, 2018, 11.15–12.45 hrs, Amber 2 Stand # 338

Face2Gene: Linking the Phenotype & Gene Variants to Speed Discovery & Diagnosis

Peter Krawitz, MD, Chief Data Science Officer, FDNA, Director, Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany

Quantifying the impact next-generation phenotyping technologies have on interpreting next-generation sequencing and discovering the genetic cause of diseases where no molecular cause is known

CS12 – NIPD Genetics, Sunday, June 17, 2018, 11.15–12.45 hrs, Amber 1 Stand # 382

NIPT beyond aneuploidies

NIPD Genetics has developed a novel targeted non-invasive prenatal test (NIPT) that allows the non-invasive detection of numerous genetic syndromes and single gene diseases by analyzing fetal DNA in maternal circulation with unparalleled accuracy Our novel NIPT methodology captures and counts cfDNA fragments from selected genomic regions at very high read-depths using targeted capture enrichment technology and proprietary analytical methods and bioinformatics This technology is currently marketed as the VERACITY new generation non-invasive prenatal test VERAgene is our new comprehensive non-invasive prenatal test that can simultaneously detect aneuploidies, microdeletions and monogenic diseases

VERACITY and VERAgene consider the complexities of the human genome, and are designed to avoid problematic genomic regions that reduce test sensitivity and specificity Both tests have demonstrated the ability to detect fetal aneuploidies, sub chromosomal deletions and point mutations with unparalleled accuracy

Speakers:

• Prof. Philippos Patsalis, Distinguished Professor, The Cyprus Institute of Neurology and Genetics, Founder and CEO, NIPD Genetics, Nicosia, Cyprus

• Dr. George Koumbaris, Chief Scientific Officer, NIPD Genetics, Nicosia, Cyprus



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Sunday, June 17, 11.15 - 12.45 hrs

CS11 – QIAGEN, Sunday, June 17, 2018, 11.15–12.45 hrs, Brown 2 Stand # 244

Transforming your biological samples into actionable insights

Using seamlessly integrated preanalytical, next-generation sequencing and bioinformatics solutions, and leveraging expertise in translational and clinical research to refine our understanding of human genetics and diseases

A panel of external and internal experts will report on their latest findings, and will be available for discussion during the workshop

CS09 – Thermo Fisher Scientific, Sunday, June 17, 2018, 11.15–12.45 hrs, Amber 3+4 Stand # 350

Single genes to pan-genome variant detection: how do we improve efficiency?

The wide spectrum of genetic and phenotypic heterogeneity in rare and inherited disease research means that a single technology platform is unlikely to deliver the appropriate clinical sensitivity, cost and time efficiency in all potential disease research areas In this session, we describe the deployment of a variety of genetic analysis approaches to reduce time and cost burden in the study of monogenic to multifactorial disorders

Selecting the right tool for the job Steve Jackson PhD, Associate Director, Product Applications, Thermo Fisher Scientific, Carlsbad, USA

An NGS gene panel approach to disease variant gene discovery in deafness and autism Speaker TBD An NGS gene panel approach using the new Ion Torrent GeneStudio Prime/Ion 550 chip and Ion AmpliSeq technology

How to overcome the challenges of exon-level CNV detection Tord Jonson, PhD, Clinical Molecular Geneticist, Labmedicin Skåne, Universitetssjukhuset, Lund, Sweden Detecting single-exon deletions and duplications for the complementation of NGS mutation analysis with the new Applied Biosystems™ CytoScan™ XON Suite

Detection of carrier status using a single pan-ethnic research assay Speaker TBD A new automated Carrier Screening research assay of 6,000 known inherited disease genomic variants for a fast preliminary search

Sunday, June 17, 15.00 - 16.30 hrs

CS14 – AstraZeneca, Sunday, June 17, 2018, 15.00–16.30 hrs, Amber 3+4 Stand # 549

BRCA and Beyond: The Leading Role of the Testing Laboratory

Chair: Prof. Nicoletta Colombo, Director of Department of Gynaecological Oncology, European Institute of Oncology, Milan, Italy

Speakers:

• Prof. Ettore Capoluongo, Prof. of Clinical Molecular Biology, Catholic University of Sacred Heart, Rome, Italy

• Dr Véronique Haddad, Department of Biopathology, Molecular Biology Unit Director, Centre Léon Bérard (University Hospital), Lyon, France

The rise of precision medicine has evoked dramatic advances in the use of diagnostic tests in the clinical setting These advances have positioned the laboratory at the centre of the clinical decision-making process within the multi-disciplinary team

Join us in this 90-minute symposium aimed at laboratory specialists, to hear a panel of experts from across a multidisciplinary setting discussing:

- best practices to optimize your BRCA testing to ensure rapid, accurate diagnostic reporting in the assessment of solid tumours, such as ovarian, breast, and prostate

- the evolving landscape, insight into the next generation of diagnostic assays that are used to analyse genes of DNA damage response

- how an oncologist assesses which diagnostic tests may be appropriate for an individual patient to advise optimal patient management



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Sunday, June 17, 15.00 - 16.30 hrs

CS17 – Fabric Genomics, Sunday, June 17, 2018, 15.00–16.30 hrs, Amber 1 Stand # 364

Accurate and Rapid Genome Interpretation in Clinical Care

Fabric Genomics’ interpretation and reporting platform, Fabric EnterpriseTM, for hereditary disease and oncology enables laboratories to develop standardized NGS testing programs with targeted gene panels, exomes, and whole genomes We will discuss key interpretation and reporting capabilities needed to launch and scale clinical NGS testing and present an optimal solution for triaging candidate variants, combining best in-class filtering and algorithmic ranking This method is being used successfully for NICU testing at Rady Children’s Hospital, San Diego and for rare disease patients in the 100,000 Genomes Project, spearheaded by Genomics England We will highlight a key example of genomic testing at Sheffield Diagnostic Genetics Service, where the use of Fabric Genomics’ technology for gene panel testing has enabled a faster turnaround time from annotation to clinical report We will conclude by presenting data from over 2,000 clinical cases and published disease-association study replications demonstrating that VAAST and Phevor identify disease-causing genes in a range of scenarios, an improvement over traditional approaches and tools

Speakers:

• Vanisha Mistry, PhD, Field Application Scientist EMEA, Fabric Genomics, London, UK (Chair)

• Matthew Parker, PhD, Lead Bioinformatician, Sheffield Diagnostic Genetics Service, Sheffield, UK

• Francisco M. De La Vega, D.Sc., Senior Vice President of Genomics, Fabric Genomics, California, USA

CS16 – NanoString Technologies, Sunday, June 17, 2018, 15.00–16.30 hrs, Brown 2 Stand # 264

Digital Genomics: Multiplexed RNA Signatures and New Hyb & Seq Targeted Sequencing Technology

Speakers:

• Rich Boykin, Sr. Director, Bioinformatics, NanoString Technologies, Seattle, WA, USA

• Anna Piskorz, Sr. Research Associate, CRUK Cambridge Institute, University of Cambridge, UK

In this presentation, we will discuss nanoString nCounter® platform applications and introduce new targeted NGS technology, Hyb & SeqTM system

Sarcoma and lung cancer are two focus areas for researchers working to understand molecular basis of disease using NanoString mRNA profiling technology With its high specificity and reproducibility, the nanoString nCounter® platform is capable of measuring RNA and DNA counts from highly degraded samples from small input volumes for quantitation of features of interest This session will explore how groups working to analyze both mRNA gene fusions and gene expression data have utilized the nCounter® platform for development of assays

Hyb & SeqTM Technology is a library-free, amplification-free, sequencing-by-hybridization technique that works directly on native DNA and RNA to rapidly yield highly accurate single-molecule consensus reads This session will explore how Hyb & SeqTM technology enables simultaneous measurement of copy number alteration (CNA), differential gene expression and targeted mutations (SNV) from clinically relevant samples of High Grade Serous Ovarian Cancer

CS18 – New England Biolabs, Sunday, June 17, 2018, 15.00–16.30 hrs, Amber 2 Stand # 454

Advancements in NGS Sample Preparation – From translational research into clinical applications

New England Biolabs is a global leader in developing solutions for Next Generation Sequencing Sample Preparation and continues to push the forefront in providing high quality, robust products to support the clinical application of genomic data During this workshop we will elucidate this through practical examples demonstrating how these products are being applied to overcome challenges associated with clinical genomics

Dr. Luiza Moore, Wellcome Trust Sanger Institute, Cambridge, UK From frozen tissue blocks to precise whole genome analysis and phylogenetic tree reconstruction of individual stem cells

Dr. Kim de Leeneer, Ghent University Hospital, Belgium The road to next generation molecular diagnostics employing Cancer-specific Gene-Panel-Sequencing

Andrew Barry, NEB, Ipswich, USA An overview of the latest advancements from NEB to enable human genetics

Your host is: Dr. Bjoern Textor, NEB, Frankfurt, Germany

Don’t miss this opportunity and join us – no registration is required Enter our on-site raffle & win one of five Solar Power Banks! We’ll also take care of your blood sugar as complimentary pastries plus hot & cold beverages will be served Looking forward to seeing you!



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Sunday, June 17, 15.00 - 16.30 hrs

CS15 – SOPHiA GENETICS, Sunday, June 17, 2018, 15.00–16.30 hrs, Brown 1 Stand # 528

SOPHiA GENETICS’ Solutions: the Gold Standard for Clinical Genomics

Clinical Exome (CES) and Hereditary Disorders (HDS) Solutions in NGS diagnostics: big gene panels to answer big questions Georgios Stamoulis, Ph.D., Clinical Application Product Manager, SOPHiA GENETICS, Lausanne, Switzerland

Streamlined CNV analysis on targeted panels and exomes Irina Krier, Ph.D., Senior Bioinformatician, SOPHiA GENETICS, Lausanne, Switzerland

Design and validation of a comprehensive NGS-based application for hereditary cancer screening Elena Marino, Molecular Biologist, Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Milan, Italy

Clinical Exome Solution (CES): Clinical utility in routine diagnostics for complex and unsolved case investigations Dr. Pantelis Constantoulakis, Head of the Molecular Genetics Department at Science Labs-Genotypos S.A., Athens, Greece

About SOPHiA GENETICS Global leader in Data-Driven Medicine, SOPHiA GENETICS is a health tech company which has developed SOPHiA AI, the most advanced technology for clinical genomics, helping healthcare professionals better diagnose and treat patients The global network of 427 hospitals in 60 countries that use the SOPHiA DDM analytical platform powered by SOPHiA form the world’s largest clinical genomics community By enabling the rapid adoption of genomic testing, turning data into actionable clinical insights, and sharing knowledge through its community, SOPHiA GENETICS is democratizing Data-Driven Medicine to save lives

Sunday, June 17, 19.15 - 20.45 hrs

CS23 – GE Healthcare, Sunday, June 17, 2018, 19.15–20.45 hrs, Amber 2 Stand # 262

How to increase NGS success with optimal sample preparation

Next-generation sequencing (NGS) has enabled us to extract genetic information from samples faster, more reliably, and cheaper than ever before, such that it has become routine In addition to preparing your sequencing libraries, it is essential to consider your sample as well as any specific requirements from a platform perspective Getting reliable data from NGS is as much about the DNA (or RNA) you put in, as it is the library prep, so what can you do to make sure your input DNA gives you the quality sequencing results you need?

Speaker:

• Mr Andrew Gane, Strategy and Technology Manager, Genomics & Diagnostics Solutions, GE Healthcare, Cardiff, UK

CS19 – Illumina, Sunday, June 17, 2018, 19.15–20.45 hrs, Amber 3+4 Stand # 540

Programme to be announced

CS22 – Integrated DNA Technologies, Sunday, June 17, 2018, 19.15–20.45 hrs, Amber 1 Stand # 568

Overcoming NGS and CRISPR detection challenges with advanced solutions

The world leader in custom nucleic acid synthesis, Integrated DNA Technologies (IDT) offers a growing portfolio of genomics solutions for use in research and clinical applications At this workshop, we will share our latest developments in next-generation sequencing and CRISPR genome editing

For NGS detection of low frequency variants, we’ll share molecular tagging adapter strategies that enable significantly improved accuracy for the detection of low, and ultra-low (<0 5 %) frequency variants, including a single unique molecular identifier (UMI) approach, and duplex sequencing

To achieve better variant detection with whole exome sequencing (WES), scientists from Blueprint Genetics will present their comparison of WES assays that enable uniform coverage and provide high sensitivity in variant detection Their study qualifies utility of Illumina NovaSeq and IDT’s Exome with boosted content for clinical diagnostics of hereditary disorders

Gene editing with CRISPR/Cas9 is moving towards therapeutic applications, driving an increased need for in-depth characterization of on- and off-target events We will present a multiplexed, amplicon-based NGS enrichment method (rhAmpSeq™) that enables high-level multiplexing for interrogation of putative Cas9 cleavage sites throughout a genome This easy workflow for quantitative assessment includes advanced chemistry, unique enzymes, intelligent primer design, and dedicated data analysis

Speakers:

• David Kupec, Senior Product Manager at IDT, Redwood City, USA

• Ashley Jacobi, Research Scientist at IDT, Coralville, USA

• Pertteli Salmenperä, PhD, Molecular Technologies Director at Blueprint Genetics, Helsinki, Finland



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Monday, June 18, 11.15 - 12.45 hrs

CS24 – Agilent Technologies, Monday, June 18, 2018, 11.15–12.45 hrs, Amber 3+4 Stand # 310

Inherited diseases - new solutions to old challenges

Analysis of targeted gene panels and whole exome sequencing with streamlined data analysis in investigation of inherited disorders Prof. Marie Louise Bondeson, Department of Clinical Genetics, Uppsala University Hospital, Sweden We evaluated the SureSelect Custom Constitutional Panel 17Mb (CPP17) and SureSelect Human All Exon 7 NGS data from in-house bioinformatics pipeline was compared with Agilent Alissa Align & Call software platform Filtration and variant interpretation was performed using Alissa Interpret and our routine work-flow

Identification of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing Dr. Julia Baptista, Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK For couples with multiple affected pregnancies, fetal samples are limited in quality and quantity Our novel testing strategy allows identification of autosomal recessive disorders in these couples We present our results for 50 consecutive couples, and discuss the utility and success of our approach

Detecting CNVs by Array-CGH Dr. Joana Barbosa de Melo, Cytogenetics and Genomics Lab, Faculdade de Medecina de Coimbra, Portugal In addition to postnatal and prenatal research, we use CGH array for detection of Copy Number alterations in Head and Neck Cancers We discuss some paradigmatic cases, showing the utility of this tool

For regulatory status of various Agilent products, please refer to www agilent com

CS25 – CENTOGENE, Monday, June 18, 2018, 11.15–12.45 hrs, Brown 1 Stand # 362

Clinical genomics and genetic risk prediction

Clinical Whole Genome Sequencing: value beyond exon-intron boundaries Aida Bertoli-Avella, CENTOGENE AG, Rostock, Germany

CentoScreen: a comprehensive test targeting recessive carrier risks Prof. Peter Bauer, CENTOGENE AG, Rostock, Germany

CS26 – Roche Sequencing Solutions, Monday, June 18, 2018, 11.15–12.45 hrs, Brown 2 Stand # 230

Cell-free DNA in prenatal testing and liquid biopsy

Chair: Maximilian Schmid, MD, Senior Director Medical Affairs - Roche Sequencing Solutions, Inc., San Jose, USA

Cell-free DNA testing for fetal aneuploidy – accuracy and reliability Francesca Romana Grati, PhD, ErCLG, R&D Director, TOMA Advanced Biomedical Assays, S.p.A., Busto Arsizio, Italy

Fetal Fraction – an important clinical and laboratory quality metric Elaine Holgado, PhD, Consultant Clinical Scientist in Molecular Genetics, The Doctors Laboratory, London, UK

Liquid biopsy- Implementation of NGS based diagnostics workflows in a clinical setting Tomasz Zemojtel, PhD, Head of Genomics Platform, Berlin Institute of Health, Berlin, Germany

Circulating cell-free DNA (cfDNA) has revolutionized genomic medicine and diagnostics The rapid adoption of non-invasive prenatal testing (NIPT) prompted significant investment into liquid biopsy, a technology which promises to bring novel solutions to cancer detection and monitoring using cell-free tumor DNA (ctDNA) The session will focus on the varying approaches to cfDNA testing and highlight technical as well as biological limitations that need to be taken into account in the laboratory implementation of NIPT It will cover the implementation of ctDNA testing, a clinical research tool with the sensitivity and specificity needed to detect low levels of ctDNA in the plasma Its potential utility for the prediction of treatment response, the detection of resistance mutations, and as emerging tool for disease surveillance and monitoring for solid tumors will be discussed



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Monday, June 18, 11.15 - 12.45 hrs

CS27 – SISTEMAS GENÓMICOS, Monday, June 18, 2018, 11.15–12.45 hrs, Amber 1 Stand # 578

Bioinformatics and transcriptomics in genetic diagnosis

Chair: Javier Benitez, PhD, Head Human Cancer Genetics Programme, Spanish National Cancer Research Center (CNIO), Madrid, Spain

The new technologies based on genomics and bioinformatics are being incorporated in clinical genetics not only for research but also for diagnosis, closing the gap between the identification of point mutations and large genetic rearrangements Bioinformatics developments now permit the detection of alterations in new genes as these occur in inherited cardiac diseases The same happens between DNA and RNA analysis in complex genes thanks to the RNAseq (transcriptomic) that facilitates the study and characterization of alterations at RNA level Finally, the use of low coverage sequencing permits the detection of new fetal alterations since the first days of pregnancy

Reassessing the impact of Copy Number Variants in inherited cardiac conditions Christian M. Moya, PhD, Head of Diagnostics and Molecular Biology, Sistemas Genómicos, Valencia, Spain

Transcriptome analyses facilitate the identification of genetic alterations in complex genes Juan Carlos Triviño, Head of Bioinformatics Department, Sistemas Genómicos, Valencia, Spain

Low coverage sequencing for the identification of gross alterations in prenatal and preimplantation diagnosis Alejandra Pérez, PhD, Product Specialist of Reproductive Genetics Unit, Sistemas Genómicos, Valencia, Spain

CS28 – Thermo Fisher Scientific, Monday, June 18, 2018, 11.15–12.45 hrs, Amber 2 Stand # 350

Answers are closer than you think: new technologies that enable your functional genetic research

This session will inform genetics researchers involved in gene target identification and functional analysis studies on the state of the art of screening technologies We will present new solutions for maximising genomic analysis through recovery of DNA and RNA from the difficult samples as well as genetic testing of tumour-derived cell-free DNA and total nucleic acids with a high-throughput processing platform

Hear about how the new award winning Invitrogen™ LentiArray CRISPR Libraries expand the application of CRISPR-Cas9 technology into high throughput applications for functional genomics screening

Discovery: automated high throughput purification solution for DNA and RNA samples for demanding downstream applications Speaker TBD

Understanding: CRISPR deployed. Target identified: advance your functional genomics research with award-winning solutions Speaker TBD

Answers: we will have 2 presentations that show you how the use of these technologies can provide you with the answers to your genetic research hypotheses and how they have brought clarity quicker than originally thought possible

Monday, June 18, 15.00 - 16.30 hrs

CS30 – 10x Genomics, Monday, June 18, 2017, 15.00–16.30 hrs, Brown 1 Stand # 436

Biology at True Resolution: What Have You Been Missing?

10x Genomics is building tools for scientific discovery that reveal and address the true complexities of biology and disease Through a combination of novel microfluidics, chemistry and bioinformatics, our award-winning Chromium System is enabling researchers around the world to more fully understand the fundamentals of biology at unprecedented resolution and scale

Join us as we take a look at the evolution of our technology, provide an update on our newest products including Single Cell ATAC-seq and Single Cell CNV, and hear examples of customer success stories

Refreshments will be available after the event

Welcome & Introductions Scott Brouilette, Regional Marketing Manager EMEA, 10x Genomics

Biology at True Resolution: What Have You Been Missing? Annika Branting, Marketing Development Manager EMEA, 10x Genomics

Pushing the Limits of Linked Reads Pekka Ellonen, Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Finland



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Monday, June 18, 15.00 - 16.30 hrs

CS33 – Blueprint Genetics, Monday June 18, 2018, 15.00–16.30 hrs, Amber 2 Stand # 426

Next Generation Interpretation Technology – Utilization of Artificial Intelligence to Interpret Patient’s Genetic Test Results

15 00–15 45 Tackling the growing challenges of clinical interpretation of NGS data Eveliina Salminen, MD, PhD, Clinical Interpretation Team Leader, Blueprint Genetics, Helsinki, Finland

15 45–16 30 Automated interpretation unlocks genomic medicine Jussi Paananen, PhD, Director of Data Science, Blueprint Genetics, Helsinki, Finland

This session will provide the audience with a comprehensive overview of the current clinical interpretation process and changes that will occur due to recent technological advances A focus will be placed on next generation interpretation technology such as utilization of AI to interpret a patient’s genetic test results Strategies which maximize quality and reproducibility of clinical interpretation in a high volume rare disease genetic diagnostic laboratory will be introduced as well

Drop by booth #426 or visit blueprintgenetics com to learn more about the recent advances from Blueprint Genetics

CS32 – FLUIDIGM, Monday, June 18, 2018, 15.00–16.30 hrs, Amber 1 Stand # 544

Power a New Future in Molecular Genomics

Achieve real savings with automated workflows and nanoscale reactions

The Juno™ Targeted DNA Sequencing Library Preparation System allows you to easily scale next-generation sequencing (NGS) sample throughput Providing operational efficiency for detecting known or de novo DNA variants, the system is ideal for routine testing or large-scale screening projects Microfluidics automate amplicon enrichment and sample barcoding, enabling you to accurately sequence more samples in a cost-effective manner

Biomark™ HD is an automated, high-performance PCR system that processes tens to hundreds of samples in parallel at nanoliter volumes for gene expression, genotyping, CNV analysis and digital PCR Ideal for performing PCR on multiple markers across hundreds to thousands of samples, the Biomark HD provides significant cost and time advantages over plate-based technologies

Shaun Cordes, Director of Product Management, Genomic Systems, Fluidigm, San Francisco, CA, USA Introduction to Fluidigm Microfluidic Technology

David Zeevi, PhD, Director of Research and Development, Dor Yeshorim, Committee for the Prevention of Jewish Diseases, Jerusalem, Israel Population screening for autosomal recessive pathogenic variants using the Fluidigm EP1™ System

Bill Hunt, Marketing Director, Applications Product Management, Fluidigm, San Francisco, CA, USA Improve workflow efficiency with Advanta™ NGS library prep assays for inherited genomics and oncology using the Juno™ system

CS31 – Twist Bioscience, Monday, June 18, 2018, 15.00–16.30 hrs, Brown 2 Stand # 266

Your Exome, Your Custom Content, Your Workflow Don’t Settle for Less in Targeted Sequencing

Twist Bioscience is transforming synthetic biology and genomics Although targeted sequencing has evolved, today’s methods are too limiting and inflexible for scientists to use them as desired Twist Bioscience is entering the targeted sequencing market with a novel Target Enrichment Solution that breaks out of these limitations The scalable solution combines quick customization and content flexibility with unprecedented sequencing efficiency Double-stranded DNA probes are individually tuned to enrich target regions with great uniformity, reducing the overall cost of sequencing Twist Bioscience’s fast and precise DNA Synthesis Platform further allows testing of custom panels before locking in the final design During this workshop, invited speakers present data from their work using Twist panels ranging from the exome to focused sets of genes and viruses


PROGRAMME BUSINESS AND ANCILLARY MEETINGSG

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As per date of printing

Friday, June 15, 201808 00 – 13 00 hrs UEMS Exams (written) White 2 closed08 00 – 18 00 hrs ERN GENTURIS White 1 closed09 00 – 13 00 hrs ESHG Executive Board Meeting Yellow 3 closed09 00 – 18 00 hrs EBMG GNGC Board Meeting Suite 2 closed13 00 – 18 00 hrs UEMS Exams (oral) Suite 7, 8, 9 / Office 18, 19 closed13 30 – 18 00 hrs ESHG Board Meeting I Yellow 3 closed

Saturday, June 16, 201809 00 – 13 30 hrs ESHG PPPC Meeting Suite 1 closed09 00 – 13 30 hrs ESHG Quality Subcommittee Meeting Suite 2 closed09 00 – 14 00 hrs ERN GENTURIS White 1 closed10 00 – 18 30 hrs EBMG Exams Yellow 3 closed12 15 – 13 45 hrs ESHG NPG/Exec Suite 3 closed13 00 – 14 30 hrs HVP ISAC White 2 closed13 00 – 14 00 hrs ERN Trainee meeting Yellow 1+2 closed14 30 – 16 30 hrs E C A Meeting White 1 closed

Sunday, June 17, 201808 15 – 10 45 hrs European Network of Genetic Nurses and Counsellors Meeting Yellow 3 open to members10 00 – 13 30 hrs Genetics of Auto-Inflammatory Disorders White 1 closed10 15 – 11 15 hrs ERN-ITHACA Board Meeting Suite 1 closed11 00 – 12 30 hrs EBMG Clinical Laboratory Geneticists (CLG) Meeting Suite 2 open to members11 00 – 13 00 hrs National Human Genetics Societies Meeting Yellow 3 closed11 30 – 13 00 hrs GENIDA advisory boarding meeting Suite 1 closed13 00 – 17 00 hrs EBMG Exams Suite 3 closed13 30 – 15 30 hrs CEQAS Participants Meeting Yellow 3 open16 30 – 17 30 hrs ERN-ITHACA Solve-RD Phenotyping Yellow3 closed16 30 – 18 00 hrs Building Bridges ESHG/ASHG Meeting White 2 closed19 30 – 20 30 hrs ESHG Membership Meeting Yellow 1+2 open to members

Monday, June 18, 201808 00 – 10 00 hrs UEMS and EBMG BMGG Boards Meetings White 1 closed08 30 – 10 30 hrs ESHG Education Committee Meeting White 2 closed10 00 – 11 00 hrs EJHG Editorial Board Meeting Suite 2 closed10 00 – 12 30 hrs UEMS Section Meeting White 1 open at 11 30 hrs10 15 – 11 15 hrs ESHG/ASHG Leadership Meeting White 2 closed11 00 – 13 30 hrs Journal of Community Genetics Suite 1 closed11 30 – 14 00 hrs BAP1 Interest Group(BIG) Consortium Meeting Suite 3 closed11 45 – 12 45 hrs ESHG Board Meeting II Yellow 3 closed12 00 – 13 00 hrs EJMG Board Meeting Suite 2 closed13 00 – 15 00 hrs EBMG General Assembly Yellow 3 closed16 00 – 17 45 hrs LOVD user networking meeting Yellow 3 closed

Tuesday, June 19, 201809 00 – 13 30 hrs COST Action CA16118: Reverse phenotyping in Genetics of Brain Malformations Yellow 3 open12 15 – 13 15 hrs ESHG SPC Meeting White 1 closed12 30 – 13 30 hrs EMPAG SPC Meeting Suite 1 closed

DisclaimerAncillary and satellite meetings shall not state or imply endorsement of, or support by the ESHG of the event, organiser, products or services presented in any verbal statements or printed/electronic media before, after and during the presentations.


PROGRAMME ESHG AWARD & MENDEL LECTURESG

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ESHG Award

The ESHG Award, formerly “Mauro Baschirotto Award”, was founded in 1992 and is presented by the European Society of Human Genetics during its annual European Human Genetics Conference in recognition of individual achievement in human genetics

The ESHG Award Lecture is held on Tuesday, June 19, 2018 at 14 15 hrs in Gold Room

Award Holders

Mendel Lecturers

Since 2006 the European Human Genetics Conference closes with the lecture of a distinguished speaker In 2009 this lecture was officially named “Mendel Lecture”

The Mendel Lecture is held on Tuesday, June 19, 2018 at 13 30 hrs in Gold Room

Mendel Lecturers

2018 Matthew Hurles2017 Edith Heard2016 Stefan Mundlos2015 Svante Pääbo2014 Sir Michael Stratton2013 Felix Mitelman2012 Peter Lichter2011 GertJan B. van Ommen2010 Sir Alec Jeffreys

2009 Kari Stefansson2008 Arnold Munnich 2007 Andrea Ballabio2006 Veronica van Heyningen2005 Stylianos Antonarakis2004 Bernhard Horsthemke2003 Sir Peter S. Harper2002 Albert de la Chapelle2001 Robin Winter

2000 Dirk Bootsma1999 Pat Jacobs 1998 Jean-Louis Mandel1997 Leena Peltonen1996 Malcolm Ferguson-Smith1995 Jean Weissenbach1994 Mary Lyon1993 Pierre Maroteaux1992 Lore Zech

2018 Emanuelle Charpentler2017 George Church2016 Sir Adrian Bird2015 Thomas Südhof2014 Mario Capecchi

2013 Huda Zoghbi 2012 Evan Eichler2011 Elizabeth H. Blackburn2010 Mary Claire King2009 Sir John Burn

2008 Leroy Hood2007 Aaron J. Ciechanover2006 Sydney Brenner

The Mendel Award was designed by Swedish geneticist Alicia Bergsten


PROGRAMME ESHG AWARD LECTURER INTERVIEWG

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Matthew Hurles

Matthew Hurles is Head of Human Genetics at the Wellcome Sanger Institute, Hinxton, Cambridge, UK. He will be giving the ESHG Award Lecture on Tuesday June 19 at 14.15 hrs. He talked to Mary Rice about his life and work.

When Matthew Hurles isn’t in his lab trying to identify rare genetic diseases, he may sometimes be found cycling up a mountain He’s clearly someone who likes a challenge

His interest in science started in his mid-teenage years The books of Stephen Jay Gould sparked an interest in evolution and started him thinking about the role of science in deciphering it Encouraged by his mother, a biochemistry teacher, he studied biochemistry at Oxford “The course was general and the genetics component very slight, but for me that was the most interesting part So for longer projects, both as a undergraduate and for my PHD, I sought out things that were in that evolutionary space ”

His interest in the genetics of evolution led naturally to his current work in the understanding of human genetic variation, its clinical impact, and how the understanding of the genetic causes of rare disorders and their biological mechanisms can provide insights into human development

For the last seven years he has led the UK’s Deciphering Developmental Disorders Project, which aims to use the latest genomic technologies to diagnose chidren where a genetic disorder is suspected, but where the tests available to the National Health Service have not so far been able to arrive at a diagnosis “Over the last seven years we’ve been able to work with about 13,000 families and provide to the clinical teams that care for them what we think are likely diagnoses that they can work up and confirm”, he says

This work is clearly rewarding, but Hurles has a few qualms too “I would have liked to see our work enter routine clinical service more quickly than it has, but when you are engaging with an entire healthcare system it seems that delays are inevitable And the Genomics England programme is now taking up the baton of transforming the system through the better use of genomic data However, the work that we’re doing has made me more aware of the ways in which, as a society, the support that we give families who look after disabled children is woefully short of what they should receive I find that kind of societal unfairness to be deeply frustrating ”

“But on the other side of the coin, I’m very happy to have been able to find a place within science, which is something that fascinates me at an intellectual level, where there is also a real demonstrable benefit to people – especially to vulnerable people in our community, people with rare genetic disorders It’s a real privilege to be able to follow your own interests and do things that you’re curious about but that also have outputs that are extremely meaningful for people on a personal level ”

If he hadn’t been become a scientist, there was a time when Hurles would have liiked to play cricket professionally “But I realise now that it probably wouldn’t have been a wise choice, even had I been good enough ” Now he likes the idea of designing gardens even though, he says : “It sound very middle-aged !” As this suggests, retirement is a long way off, and he will decide what he wants to do at a later stage “There are two types of retirement amongst scientists Some retire and continue essentially as before, and some you never see again I don’t yet know which category I will fit into ”

Gardening and cycling remains big interests, so he will have plenty to do if he decides to quit science for good in twenty years or so “Every few years friends and I go to the Alps and cycle up some of the classic climbs from the Tour de France It’s very beautiful and quite different from the landscape around Cambridge ! And every gardener will tell you that if they spent more time in the garden it would look better than it does currently ”

Hurles will be telling the conference about what he and colleagues have learned during their time with the Deciphering Developmental Disorders Project “We’ve acquired a lot of new knowledge about the genetic architecture of these children, who have disorders that are essentially genetic and that cause their severe developmental problems We’ve been able to generate different types of genetic data and interrogate it and thereby identify the relative contributions of dfferent classes of variations, as well as defining many new genetic disorders that can now be diagnosed around the world This has required bringing together a clinical engagement with the latest technologies and the computational approaches required to marry all the data together It’s something that we are proud of, and I am personally happy to have been able to use the science that I find so fascinating in a way that can assist people who are really in need of help ”

Matthew Hurles Head of Human Genetics at the Wellcome Sanger

Institute, Hinxton, Cambridge, UK


PROGRAMME MENDEL LECTURER INTERVIEWG

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Emanuelle Charpentier

Emmanuelle Charpentier is Director of the Department of Regulation in Infection Biology at the Max Planck Institute for Infection Biology in Berlin, Germany. She will be giving the Mendel Lecture on Tuesday June 19 at 13.30 hrs. She talked to Mary Rice about her life and work.

Although she was very interested in the natural and human sciences while at school, Emmanuelle Charpentier didn’t consciously think at that time that she might become a microbiologist one day – or so she believed Yet, when she mentioned her plans to join the Institut Pasteur for her Masters, her mother told her that, aged 12, she had come home from school and said that she would work at the Pasteur one day “I have no recollection of having said that; but my biology teacher must have talked about something that made me think of the possibility of becoming a microbiologist in the future,” she says

The support of her parents has always been important to her, and particularly so when she left France to pursue her career as a postdoc in the United States “Being far away from your home in a completely different work culture is not always easy, but I could always talk to them and they helped me expand my mindset That was a valuable experience and I believe that it also made me a better scientist ”

After five years in the States, she returned to Europe and worked in Austria, Sweden and Germany, where she has been at the Max Planck Institute in Berlin since 2015 The discovery of CRISPR-Cas9 gene editing technology thrust her into the spotlight “It is truly an experience that has shaped my life as a scientist in a way that I could never have imagined, and I feel very honoured that it has had such an impact on the scientific community Although there were already many tools for gene surgery, CRISPR-Cas9 has proved to be more precise, easier to use, more efficient and more versatile ”

Whereas most technologies take some time to be adopted widely, “thousands of labs around the world are already working hard to further develop the technology,” says Charpentier “I am thrilled about the prospect that one day, the CRISPR discovery may be used to treat serious genetic diseases in humans CRISPR Therapeutics, the company I co-founded with Rodger Novak and Shaun Foy, has recently filed its first application for clinical trials for a CRISPR-based gene therapy against genetic blood disorders, such as ß-thalassemia and sickle cell disease ”

Charpentier still has plenty of challenges to face, both in her work and more widely “Advocating for basic science, and for microbiology in particular, is not easy Understanding the basic workings of nature is definitely something that drives me as a scientist in my research, and I’m sure that goes for many colleagues too But unfortunately, we all have to fight for funding for basic science The discovery of the CRISPR-Cas9 technology shows clearly that pure basic science can lead to a major breakthrough with practical applications There are no old or obsolete topics ; one can make interesting findings in many research fields ”

If Charpentier hadn’t be a scientist, she might have been a ballet dancer or a performer in the arts “I imagined doing this when I was a child ” She would also have enjoyed being an athlete, and still tries to find time for sports “It’s a way for me to achieve equilibrium after long hours at work I try to spend time on the track or swimming whenever I can, but with my busy schedule, I no longer have the time for the cultural and artistic life that I used to enjoy ”

Retirement is still a long way off, and “once a scientist, always a scientist,” she says But she does sometimes think about projects outside the lab “The impact of the CRISPR-Cas9 technology has meant that I have had the privilege of meeting many people who have initiated innovative and exciting projects that have the aim of supporting scientists in their work, engaging society, and increasing the visibility of research among the public I find that very inspiring ”

In her talk, Emmanuelle Charpentier intends to share the history surrounding the discovery of the CRISPR-Cas9 gene editing technology with her geneticist colleagues “As a microbiologist, I have always been interested in the fundamental mechanisms of infection and immunity in bacteria, and this is how I identified the CRISPR-Cas9 mechanism Its versatility and simplicity has an immense potential for the treatment of serious genetic disease, but it also comes with challenges and responsibilities for scientists, particularly when it comes to editing the human germline, the subject of huge debate throughout Europe and more widely I am already looking forward to the discussions!”

Emanuelle Charpentier Director of the Department of Regulation in Infection Biology at the Max Planck Institute for Infection Biology in Berlin, Germany


PROGRAMME YOUNG INVESTIGATOR AWARD CANDIDATESG

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ESHG Young Investigator Awards

The Scientific Programme Committee has shortlisted presenters for the ESHG Young Investigator Awards. The committee will judge the finalists’ presentations during the conference The following awards will be presented to the winners in the closing ceremony on Tuesday, June 19, 2018 at 15 00 hrs:

• A total of four ESHG Young Investigator Awards are granted for outstanding research by young scientists presented as a spoken contribution at the conference

• The Isabel Oberlé Award is awarded yearly since 2002 for best presentation by a young scientist on research concerning the genetics of mental retardation

• The Lodewijk Sandkuijl Award was instituted in 2004 to be awarded to the author of the best presentation at the ESHG conference within the field of complex disease genetics and statistical genetics

• The Vienna Medical Academy Award (funded by our conference organiser VMA since 2012) will be awarded to the best presentation in translational genetic research/therapy of genetic diseases

• The Mia Neri Award (funded by the Mia Neri Foundation) will be awarded to the best presentation in cerebral cancer research

All winners will receive prize money in the amount of EUR 500, a complementary ESHG online membership for one year as well as a free particpation in next year's conference

Talks of YIA finalists are highlighted by a grey background in the detailed scientific programme on the previous pages We conducted a short interview with each candidate

These interviews can be found on our website

https://2018 eshg org/index php/abstracts/speaker/

ESHG Poster Awards

The ESHG proposes the ESHG Poster Awards for the best posters presented by Young Investigators at the meeting The two winners (one in clinical, the other in basic research) will receive a prize money of EUR 500, a complementary ESHG online membership for one year as well as a free particpation in next year's conference The five honorable mentions receive a complementary ESHG online membership for one year

The ESHG Scientific Programme Committee has selected a number of candidates for the ESHG Poster Award based on the score of their submission after peer review Candidate posters can be identified by a rosette on the board

The profiles as well as a short interview of the finalists can be found on the website

https://2018 eshg org/index php/abstracts/speaker/

EMPAG Young Investigator Award

9 EMPAG presenters were norminated for an EMPAG Young Investigator Award The candidates are marked in the EMPAG Programme (page 66 ff)

The EMPAG YIA will also be presented in the ESHG closing session together with all other awards

https://2018.eshg.org/index.php/abstracts/speaker/

https://2018.eshg.org/index.php/abstracts/speaker/



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C01.3John McDermottManchester, United Kingdom

C01.4Alina KurolapHaifa, Israel

C02.2Oluwakemi Lokulo-SodipeSouthampton, United Kingdom

C03.2Sebastiaan VanuytvenLeuven, Belgium

Saturday, June 16 at 16.30 hrs

PL2.2Molly GasperiniSeattle, WA, USA

PL2.3Shruti SinglaCambridge, United Kingdom

Saturday, June 16 at 18.30 hrs

C07.3Laurent FrancioliBoston, MA, USA

C07.4Courtney FrenchCambridge, United Kingdom

C08.2Andrea GannaCambrdige, MA, USA

C08.3John MorrisMontreal, QC, Canada

Sunday, June 17 at 13.00 hrs

C03.3Marc BonderHinxton, United Kingdom

C03.4Xiaojing ChuGroningen, Netherlands

C03.5Daria ZhernakovaGroningen, Netherlands

C04.3Dylan de VriesGroningen, Netherlands

C04.4Jiayi PeiUtrecht, Netherlands

C05.2Katherine JohnsonNewcastle upon Tyne, United Kingdom

C05.4Marija DulovicLuebeck, Germany

C06.2Mahmoud FassadLondon, United Kingdom

C06.3Elisa MolinariNewcastle upon Tyne, United Kingdom

C06.4Michiel VoskuilGroningen, Netherlands

C06.5Alina HilgerBonn, Germany

C09.2Lot Snijders BlokNijmegen, Netherlands

C09.4Víctor FaundesManchester, United Kingdom

C11.3Sarah StentonMünchen, Germany

C11.4Paramasivam ArumugamHyderabad, India

C11.5Silvia VidaliMunich, Germany



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C13.3Mario ReimanTartu, Estonia

C13.5Antoni Riera-EscamillaBarcelona, Spain

C14.3Vasilina SergeevaMoscow, Russian Federation

C14.4Gregory FindlaySeattle, WA, USA

Monday, June 18 at 13.00 hrs

C19.3Kristina IbanezLondon, United Kingdom

C20.2Susann DiegmannGöttingen, Germany

C20.3Sara ReynhoutLeuven, Belgium

C20.4Elisa GiorgioTorino, Italy

Tuesday, June 19 at 11.00 hrs

C15.2Ilaria ParentiLübeck, Germany

C16.2Julie FeusierSalt Lake City, UT, USA

C16.3Raul Aguirre-GamboaGroningen, Netherlands

C16.4Umberto EspositoSheffield, United Kingdom

C16.5Gudny ArnadottirReykjavik, Iceland

C17.2Laura VandervoreBrussels, Belgium

C17.3Xenia LatypovaNantes, France

C17.4Francesca MattioliIllkirch, France

C18.5Melodie AubartParis, France

C20.5Susanna CrociSiena, Italy

C21.2Eleonora PorcuLausanne, Switzerland

C21.3Ronald de VlamingRotterdam, Netherlands

C21.4Richard OppongEdinburgh, United Kingdom

C23.2Anna MorganTrieste, Italy

C23.3Raquel SilvaLondon, United Kingdom


PROGRAMME POSTER AWARD FINALISTSG

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P02.15BFabiola CeroniOxford, United Kingdom

P02.31BSabrina MéchaussierParis, France

P04.07CLara HochfeldBonn, Germany

P05.61AOlga GiannakopoulouLondon, United Kingdom

P06.36DCharlotte AlstonNewcastle upon Tyne, United Kingdom

P06.50BElisa De FrancoExeter, United Kingdom

P06.64DNoelia BenetóBarcelona, Spain

P09.014BMarc Corral-JuanBadalona, Spain

P09.022BAna MarquesLisboa, Portugal

P09.061AHenrike HeyneBoston, United States

P09.116DAlessandra ZanonBolzano, Italy

P10.04DNatalia Mendoza FerreiraCologne, Germany

P12.076DElke van VeenManchester, United Kingdom

P12.099CVincent GatinoisMontpellier cedex 5, France

P12.214BKris VleminckxGhent, Belgium

P14.040DDavid ZhangLondon, United Kingdom

P14.096DPatrick DeelenGroningen, Netherlands

P14.097ASophie NambotDijon, France

P15.03CDina YagelRamat Gan, Israel

P16.33AAlexander KurilshikovGroningen, Netherlands

P16.40DTzung-Chien HsiehBonn, Germany

P17.22BAlice CortesiMilan, Italy

P17.45ALaura FontanaMilan, Italy

P17.58BChristina PaliouBerlin, Germany

P18.25AMauro PalaCagliari, Italy

P18.48DTimo Tõnis SikkaTartu, Estonia

P18.77AElena LoizidouLondon, United Kingdom

P19.24DLuzia GarridoPorto, Portugal

P20.05AMahsa ShabaniLeuven, Belgium

P20.13ALiis LeitsaluTartu, Estonia


EMPAG SCIENTIFIC PROGRAMME


EMPAG PROGRAMME SATURDAY, JUNE 16G

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12.00 – 14.00 hrs | Lunch Break, Exhibition, Poster Viewing

12.30 – 13.30 hrs Amber 7+8

Brief Plenary Session – EBPL1: Hopes and expectations on genome editing

Chairs:Annelien L BredenoordSam Riedijk

EBPL1.1The ethics of clinical applications of germline genome modification: a systematic review of reasonsIvy van Dijke, VU Univ Medical Ctr, Amsterdam, Netherlands

EBPL1.2Enabling informed opinions about germline editing among the general public: a pilot studyBoy Vijlbrief, Erasmus Medical Ctr, Rotterdam, Netherlands

EBPL1.3Informed consent in a human germline gene editing study - ethical issuesEmilia Niemiec, Uppsala Univ, Uppsala, Sweden

EBPL1.4The PRISM-IMPACT study: What are the hopes and expectations of families and health care professionals enrolling in a personalised medicine trial for high risk childhood cancers?Janine Vetsch, Sch of Women’s and Children’s Health, UNSW Sydney, Sydney, NSW, Australia

14.00 – 14.30 hrs Gold Room

Opening – Welcoming Addresses (joint with ESHG)

Welcoming Addresses by Christine Patch Maurizio Genuardi Elisabetta Razzaboni President of the ESHG President of the Italian Society of Human Genetics Sam Riedijk Co-Chairs of the EMPAG SPC

14.30 – 16.00 hrs Amber 7+8

Plenary Session – EPL1: Ensuring good clinical practice in whole genome sequencing

Chairs:Nadeem QureshiRamona Moldovan

EPL1.1Knowledge about and attitudes towards whole-genome sequencing among participants in the 100,000 Genomes Project: a multi-site surveySaskia C. Sanderson, Great Ormond Street Hosp, London, United Kingdom

EPL1.2A clinician survey: diagnostic utility, impact on patient management, and outcomes of clinical exome sequencingJane Juusola, GeneDx, Gaithersburg, MD, USA

EPL1.3Motivations and Barriers for participants and decliners of the 100,000 Genomes Project from different ethnic backgroundsNilotpal Chauhan, Oxford Univ Hosp NHS Fndn Trust, Oxford, United Kingdom

EPL1.4Patient perspectives after genomic sequencing testing in clinical careMelissa Martyn, Melbourne Genomics Health Alliance, Parkville, VIC, Australia

EPL1.5Reproductive and heteronormative presumptions in disclosure of pediatric whole exome sequencing results Allison Werner-Lin, Univ of Pennsylvania, Philadelphia, PA, USA

EPL1.6Facilitating understanding of whole genome sequencing in young peopleCeline Lewis, North East Thames Regional Genetics Service, Great Ormond Street Hosp for Children NHS Fndn Trust, London, United Kingdom

16.00 – 16.30 hrs | Fruit Break, Exhibition, Poster Viewing

YIA

YIA


EMPAG PROGRAMME SATURDAY, JUNE 16G

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16.30 – 18.00 hrs Amber 7+8

Plenary Session – EPL2: Improving communication in genetic counselling

Chairs:Elisabetta RazzaboniMilena Paneque Herrera

EPL2.1‘Music of Life’ a new metaphor for genomics, delivered as film within genetic counsellingAnna Middleton, Connecting Science, Wellcome Genome Campus, Cambridge, United Kingdom

EPL2.2A large outcome study on genetic counseling in the Netherlands: empowerment and emotional functioningJan S. Voorwinden, UMCG, Groningen, Netherlands

EPL2.3Improving communication for individuals with a rare conditionAshleen L. Crowe, Ctr for Public Health, Queen’s Univ Belfast c/o Regional Genetics Ctr, Level A, Tower Block, Belfast City Hosp, Lisburn Road, BT9 7AB, Belfast, United Kingdom

EPL2.4Empowering service users: Assessing the potential benefits of psychiatric genetic counselling from the 1st UK pilot study.Melanie S. Watson, Wessex Clinical Genetics Service, Southampton, United Kingdom

EPL2.5Bridging the gaps of uncertainty in genetic counselling with ethnic-specific data.Yasmin M. Bylstra, Singhealth Duke-NUS Inst of Precision Med, Singapore, Singapore

EPL2.6myKinMatters: developing a web app tool to help patients create a family tree and communicate genetic health information to at-risk relativesLisa M. Ballard, Clinical Ethics and Law, Univ of Southampton, Southampton, United Kingdom

18.00 – 18.30 hrs | Coffee Break, Exhibition, Poster Viewing

18.30 – 20.00 hrs Amber 7+8

Plenary Session – EPL3: Educating Professionals and Public

Chairs:Christophe CordierRamona Moldovan

EPL3.1‘What is genomics as I’ve never heard of it?’: The challenges of identifying the education needs around an emerging clinical areaMichelle Bishop, Genomics Education Programme, Edgbaston, United Kingdom

EPL3.2Genetic counsellors’ clinical practice in Europe: a mixed method assessment/approach on their contributionCharlotta Ingvoldstad, Dept of Clinical Science, Intervention and Technology , Div of Obstetrics and Gynaecology, Stockholm, Sweden

EPL3.3Clinical Genetics Educational external assessment (EQA)- assuring improvement in the Clinical Service.Ros Hastings, Oxford Univ Hosp NHS Fndn Trust, Oxford, United Kingdom

EPL3.4The changing clinical practice of genomic medicine: what are the preferences of and education/training needs of health professionals?Sylvia A. Metcalfe, Murdoch Childrens Res Inst and Dept Paediatrics, Univ of Melbourne, Parkville, Vic, Australia

EPL3.5Exploring the experiences of genetic health professionals with adopteesRhiana Spinoso, Univ of Melbourne, Melbourne, Australia

EPL3.6Learning the role of genomics in human health: the serious games experienceSerena Oliveri, Dept of Oncology and Hemato-Oncology, Univ degli Studi di Milano, Milan, Italy

20.00 – 21.30 hrs | Opening Networking Mixer (outside balcony and main entrance)

YIA


EMPAG PROGRAMME SUNDAY, JUNE 17G

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Symposium – S01: Prenatal Genetics (joint with ESHG)

Chairs:Sam RiedijkAntonio Percesepe

S01.1Prospective analysis of 20,000 cases reveals that the combined use of cell-free DNA counting and size measurement improves specificity of NIPTRossa Chiu, Hong Kong, Hong Kong

S01.2Mommy and me sequencing: incidental detection of maternal abnormalities via non-invasive prenatal testingDiana Bianchi, Rockville, MD, USA

S01.3Supporting informed choice for non-invasive prenatal testing in clinical practice: How well are we doing?Celine Lewis, London, United Kingdom


10.15 – 11.15 hrs Poster Area

Poster Viewing with Authors – Group A

11.15 – 12.15 hrs Amber 7+8

Brief Plenary Session – EBPL2: The Legal Side of Genomic Care

Chairs:Francesca ForzanoEdward Dove

EBPL2.1The evolving duty of care in clinical genomics under UK lawAlison E. Hall, PHG Fndn, Cambridge, United Kingdom

EBPL2.2Concerns about genetic discrimination after regulation: a qualitative study of the situation regarding BRCA and Huntington’s disease in BelgiumAnnet Wauters, KU Leuven, Leuven, Belgium

EBPL2.3Life insurance and genetic discrimination: A barrier for genomic medicine in AustraliaJane M. Tiller, Public Health Genomics, Sch of Public Health and Preventive Med, Monash Univ, Melbourne, Australia

EBPL2.4Working with the public: engaging with consumers about the ethics of and decision to pursue personal genomic testingJacqueline Savard, The Univ of Sydney, Camperdown, Australia


13.00 – 14.30 hrs Amber 7+8

Symposium – ES1: Communication of genetic information with and within families

Organisers:Ramona MoldovanSam Riedijk

ES1.1Genetic counselling for children and adolescents: challenges going forwardMădălina Radu, Cluj-Napoca, Romania

ES1.2Facilitating Parents and their Children’s Communication about Genetic Conditions: Techniques and ActivitiesAlison Metcalfe, Sheffield, United Kingdom

ES1.3Communication about children’s genetic results through family networks: the case of newborn screeningFiona Ulph, Manchester, United Kingdom


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15.00 – 16.30 hrs Amber 7+8

Workshop – W11: Recontacting in genetics (joint with ESHG)

Organisers:Elisabetta RazzaboniFrancesca Forzano

Discussants:

EU survey on recontacting and EU recommendations on recontactingProf. Peter Turnpenny

Recontacting in research practice and in BiobanksProf. Deborah Mascalzoni

Legal aspects of recontactingProf. Emmanuelle Rial-Sebbag



Poster Viewing with Authors – Group B

17.45 – 19.15 hrs Amber 7+8

Plenary Session – EPL4: What’s New in Hereditary Cancer

Chairs:Elisabetta RazzaboniIgnacio Blanco

EPL4.1I remember the feeling not the gene: Families’ experiences of and attitudes towards genetic testing in childhood cancerBrittany C. McGill, Sch of Women’s and Children’s Health, UNSW Sydney, Sydney, Australia

EPL4.2Companions or patients? The impact of family presence in genetic counseling for hereditary breast cancerSivia Barnoy, Tel-Aviv Univ, Tel Aviv, Israel

EPL4.3Uptake of polygenic risk information among women at potentially high breast cancer riskTatiane Yanes, Univ of New South Wales, Sydney, Australia

EPL4.4Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors’ and counselees’ viewsNiki M. Medendorp, Academic Medical Ctr, Amsterdam, Netherlands

EPL4.5The efficacy of genetic counselling for familial colorectal cancer: a meta-analysisAndrada Ciucă, Dept of Psychology, Babeș-Bolyai Univ, Cluj-Napoca, Romania

EPL4.6Moving into the mainstream: Treatment focussed genetic testing a screening tool or diagnostic resource?Nina Hallowell, Univ of Oxford, Oxford, United Kingdom

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08.30 – 10.00 hrs Amber 7+8

Plenary Session – EPL5: To know or not to know

Chairs:Carla G van ElRhona M MacLeod

EPL5.11 in 39 individuals carries a dominant high-risk disease alleleHelger G. Yntema, Dept Human Genetics, Nijmegen, Netherlands

EPL5.2To report or not to report? That’s not the only question! Analysis of VUS reporting, variant reinterpretation, and recontact policies in clinical genomics consent formsDanya F. Vears, Ctr for Biomedical Ethics and Law, Dept of Public Health and Primary Care, KU Leuven, Leuven, Belgium

EPL5.3The patient voice in design of systems to share clinical genomic sequencing dataClara L. Gaff, Melbourne Genomics Health Alliance, Parkville, VIC, Australia

EPL5.4Predicting willingness to receive four different types of genetic risk information - A population based studyAri Haukkala, Univ of Helsinki, Helsinki, Finland

EPL5.5Disclosure of incidental findings (IFs) and variants of uncertain significance (VUS) to patients: what happens in practice?Julia el Mecky, Univ Medical Ctr Groningen, Groningen, Netherlands

EPL5.6Consent for Genetic Testing and Disclosure of Results: Shifting the Paradigm to Non-Genetics CliniciansKelly E. Ormond, Stanford Univ, Stanford, CA, USA



Poster Viewing with Authors – Group C


11.15 – 12.15 hrs Amber 7+8

Aad Tibben Lecture

Chairs:Elisabetta RazzaboniSam Riedijk

For the first time this year, EMPAG will have a special lecture to honour a scientist who has made an important mark in the field of psychological aspect of genetics. This year, we will start with its name giver Aad Tibben.

ET1.1Title to be announcedAad Tibben, Leiden, Netherlands

13.00 – 14.30 hrs Amber 7+8

Workshop – Contacting genetic relatives: practical implications and ethico-legal issues for healthcare professionals

Organisers: Edward Dove, Nadeem QureshiSpeakers: Melanie Watson, Maria Katapodi, Frederik Hes, Wendy van Zelst-Stams, Vicky Chico, Roy Gilbar

For several decades, the principle of genetic cascade screening has been to only contact relatives indirectly through the index case This is exemplified by the cascade screening set up for Huntington’s Disease More recently, however, health professionals and families have enquired about the health professionals directly contacting relatives of affected individuals Non-genetic specialist have used this approach – for example, lipid specialists contacting relatives of familial hypercholesterolemia directly by telephone or letter Further, a recent court case in England has raised profound questions regarding the extent of legal duties owed by health care professionals to non-patient third parties, particularly genetic relatives In ABC v St George’s Healthcare NHS Trust, a claim was brought by the daughter of a male patient against his clinicians for their failure to inform her about his suffering from Huntington’s Disease (HD), including when she was pregnant This EMPAG workshop will bring together leading genetics health professionals and ELSI experts to explore the benefits and harms of direct and indirect cascade screening, together with the benefits and harms of contacting genetic relatives (or not)


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EMPAG PROGRAMME MONDAY, JUNE 18

EMPAG PROGRAMME TUESDAY, JUNE 19

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15.00 – 16.30 hrs Auditorium

Workshop – W13: Genomic Quiz (joint with ESHG)

Organisers:Joris VeltmanAlexandre Reymond

In an exciting new experiment, 2 teams as well as the audience will test their knowledge of the ESHG, genetics and Milan, using multiple choice questions, performance acts and audience participation, in an hopefully entertaining and educative quiz



Poster Viewing with Authors – Group D

17.45 – 19.15 hrs Amber 3+4

Workshop – Developing a multidisciplinary approach in clinical interpretation of NGS variants for Genetic Services

Organisers: Graeme Black, Georgina Hall

Description:

A key step in clinical reporting for NGS variant analysis involves multidisciplinary team meetings (MDTs) to discuss novel variants, when to report a VUS or incidental carrier findings and unexpected potentially clinically actionable results

Such MDTs are now in place across a number of services and are set to increase significantly with the increasing role of whole exome/genome testing as a clinical service In this workshop, we plan to simulate a working model of an MDT that takes place monthly for ophthalmic genetic panels in Manchester with the aim of stimulating discussion around the roles of different participants at the MDT, reaching a consensus decision and communicating decisions to clinicians to feedback findings

We encourage participants from centres delivering MDT interpretation services to share their expertise as well as participants new to interpretation MDTs At the end of the workshop, we will use a participant survey to gather data on MDT working in relation to the communication and decision making process with a view to publishing this shared expertise at ESHG


S17 – ESHG-ASHG Building Bridges Debate: Germline genome editing (joint with ESHG)

Chairs:Joris VeltmanHeather MeffordSam Riedijk

S17.1CRISPR-Cas9: Advances and ChallengesEmmanuelle Charpentier, Berlin, Germany

S17.2Human germline genome editing: the ASHG position statementKelly Ormond, Stantford, CA, United States

S17.3National Academy of Sciences consensus statement on genome editingLuigi Naldini, Milan, Italy

S17.4Societal opportunities and challenges of genome editingAlta Charo, Madison, WI, USA

Debate

10.30 – 11.00 hrs | Coffee Break (Yellow Foyer)


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11.00 – 12.30 hrs Yellow 1+2

Plenary Session – EPL6: Perinatal decision-making

Chairs:Martina C CornelSam Riedijk

EPL6.1Stakeholder views towards prenatal and postnatal fetal mesenchymal stem cell infusions for osteogenesis imperfectaMelissa Hill, NE Thames Regional Genetics Service, Great Ormond Street Hosp NHS Fndn Trust, London, United Kingdom

EPL6.2Factors contributing to new parents’ perspectives on retention and secondary use of neonatal dried bloodspots - A mixed methods study in the NetherlandsMarleen E. Jansen, APH research institute VU Univ Medical Ctr, Amsterdam, Netherlands

EPL6.3Slippery slope for oocyte donationsOkan Atilan, Nicosia IVF Clinic, Nicosia, Cyprus

EPL6.4Development and pilot study of the prenatal informed decision-making (PRENID)-scale: a measure for informed decision-making in first trimester prenatal screeningIris M. Bakkeren, Erasmus Medical Ctr, Rotterdam, Netherlands

EPL6.5Short and long-term psychological impact of an active GP-provided couple-based ECS test-offer in the Dutch general populationJuliette Schuurmans, Dept of Genetics, Univ Medical Ctr Groningen/ Univ of Groningen, Groningen, Netherlands

EPL6.6Next-generation counseling: a model for non-invasive prenatal screening results disclosure and patient managementGabriel A. Lazarin, Counsyl, South San Francisco, CA, USA

12.30 – 13.30 hrs | Lunch Break (Gold Foyer, Auditorium Foyer)


ESHG Award Sessions

PL3Mendel LectureChairs: Joris Veltman, Gunnar Houge

PL3.1CRISPR-Cas9: How bacteria revolutionize genome engineeringEmmanuelle Charpentier, Berlin, GermanyLaudation by Gunnar Houge

PL4ESHG Award LectureChairs: Joris Veltman, Gunnar Houge

PL4.1Causes and consequences of new mutationsMatthew Hurles, Hinxton, United KingdomLaudation by Joris Veltman

PL5Award CeremonyChairs: Joris Veltman, Gunnar Houge

• ESHG Honorary Award to Helena KääriäinenLaudation by Gunnar Houge

• EJHG-SN Citation Awards

• ESHG Young Investigator Awards:

- ESHG Young Investigator Awards for Outstanding Science - Isabelle Oberlé Award for an outstanding presentation in the field of genetics of mental retardation - Lodewijk Sandkuijl Award for an outstanding presentation in the field of complex disease genetics and statistical genetics - Vienna Medical Academy Award for an outstanding presentation in translational genetic research/therapy of genetic diseases - Mia Neri Award for an outstanding presentation in the field of childhood cancer

• EMPAG Young Investigator Award for the best oral presentation

• ESHG Poster Awards in clinical research and basic science

• Closing remarks

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INFORMATIONGENERAL INFORMATIONREGISTRATION FEESNETWORKING EVENTSCORPORATE EXHIBITION


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Registration and Opening Hours

Opening Hours Registration and Preview CentreFriday, June 15 14 00 – 19 00 hrsSaturday, June 16 07 30 – 20 15 hrsSunday, June 17 08 00 – 19 30 hrsMonday, June 18 08 00 – 19 30 hrsTuesday, June 19 08 30 – 14 00 hrs

Opening Hours Exhibition and Poster AreaFriday, June 15 CLOSED!Saturday, June 16 09 30 – 18 30 hrsSunday, June 17 09 00 – 17 45 hrsMonday, June 18 09 00 – 17 45 hrsTuesday, June 19 CLOSED!

BadgesParticipants should collect name badges from the conference registration desk As only registered participants will be permitted to attend the scientific sessions, the exhibition and poster areas, you are required to wear your badge when entering and while remaining in the congress venue Accompanying persons and exhibitors will also receive badges to allow access to the appropriate areas Lost badges can be replaced at the registration desk However, a handling fee of EURO 25 - will be charged

Cancellations and RefundsNotice of cancellation had to be made in writing by email or fax to the Congress Office The policy for refunding registration fees is as follows:Written cancellation received:– before April 7, 2018: 75% refund– between April 7 and May 31, 2018: 25% refund– after May 31, 2018: no refundThe date of the email/fax ID is the basis for considering refunds Refunds will be made after the congress No refunds can be made for a cancellation received after May 31, 2018, independent of the reason for the cancellation No exceptions to the refund policy can be made, including health or family issues

Certificate of AttendanceCertificates of attendance will be issued at the registration desk

InsuranceBy registering to the ESHG 2018 participants agree that neither the organising committee nor the congress office assume any liability whatsoever Participants are requested to make their own arrangements for health and travel insurance The conference fee does not include insurance

Programme

Mobile AppThe mobile app with full programme and other useful information will be available for download two weeks before the conference Please download the ESHG Society app from your App- or Play Stores, which also contains the conference data

Preview CentreEquipment for a final check of the sequence of your presentation is available in the room Amber 5 + 6 – Preview Centre (on the second floor). All presenters should bring their electronic presentation to the Preview Centre not later than 2 hours before the start of the session (30 minutes for the first morning sessions)

Poster RemovalThe organisers cannot assume any liability for loss or damage of posters displayed in the poster area Removal times for the different groups:Groups A-C: Monday, June 18, 2018: 16.45 – 17.45 hrs (strict!)Group D: Monday, June 18, 2018: 17.45 – 18.00 hrs (strict!)Posters that will not be removed by Monday, June 18, 2018, 18.00 hrs, will be removed by the staff, will not be kept or mailed to the author after the meeting, but will be discarded.

Live Streaming in the Exhibition HallThe plenary lecture hall is equipped with a live transmission possibility to the Live area in the exhibition The programme of the Gold Room will be transmitted to this area during exhibition opening hours

Coffee BreaksDuring the exhibition opening hours, refreshments (coffee, tea and water) will be served free of charge to participants wearing name badges Coffee and lunch bags will be served in the exhibition area during designated break times

Lunch and RefreshmentsLunch tickets for lunch boxes had to be pre-ordered – they cannot be purchased on site Please note that lunch tickets are not refundable Lunch boxes can be picked up from 11 30 – 13 30 at the coffee points in the exhibition A cash bar is also available in the exhibition area



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Venue

Conference VenueMiCo – Milano Congressi Piazzale Carlo Magno, 1 Viale Eginardo – GATE 2 20149 Milano Italy

Car ParkingThere is a parking lot right in front of the conference venue accessible through Gate 17

Cloakroom and LuggageA cloakroom and luggage storage are available in the registration area

WIFIWiFi is available throughout the conference venue Network ID: eshg2018, password: eshg2018

StaffIf you should have any questions, the congress staff (recognizable by a pink lanyard and a blue blazer) will be pleased to help you

Public transport

Buses & Trams

for the “viale Eginardo / viale Scarampo” entrance:• Bus No 78 – Eginardo/Colleoni stop

for the “piazzale Carlo Magno / via Gattamelata” entrance:• Bus no 78 – get off at Colleoni/Gattamelata• Tram no 19 – get off at Boezio• Tram no 27 – get off at Piazza 6 Febbraio

Metro

• Liliac Line 5: for the “viale Eginardo / viale Scarampo” entrance: get off at the “Portello” stop – 80 m from the Congress Centre for the “piazzale Carlo Magno / via Gattamelata” entrance: get off at the “Portello” stop, walk along Via Colleoni and, on the right, Via Gattamelata for approx 450 m, otherwise get off at the “Domodossola FNM” stop, and walk about 600 m towards the Congress Centre

• Red Line 1: for the “viale Eginardo / viale Scarampo” entrance: get off at the “Amendola” stop – 700 m from the Congress Centre, or at “Lotto” approx 800 m for the “piazzale Carlo Magno / via Gattamelata” entrance: get off at the “Cadorna” stop, exit the subway and go to the railroad station above : take the first train departing and get off at the “Domodossola” stop – just 600 m from the Congress Centre

• Green Line 2: get off at “Cadorna” for the “viale Eginardo / viale Scarampo” entrance: take Red Line 1 (going to RHO Fiera Milano) and get off at the “Amendola” stop – 700 m from the Congress Centre, or at “Lotto” approx 800 m for the “piazzale Carlo Magno / via Gattamelata” entrance: exit the subway and go to the railroad station above: take the first train departing and get off at the “Domodossola” stop – just 600 m from the Congress Centre

• Yellow Line 3: Get off at “Duomo”, switch to the Red Line 1 (RHO Fiera Milano direction) for the “viale Eginardo / viale Scarampo” entrance: get off at the “Amendola” stop – 700 m from the Congress Centre, or at “Lotto” approx 800 m for the “piazzale Carlo Magno / via Gattamelata” entrance: get off at the “Cadorna” stop, exit the subway and go to the railroad station above : take the first train departing and get off at the “Domodossola” stop – just 600 m from the Congress Centre

Conference Policy

IMPORTANT NOTICE:Please note that taking pictures or filming during the sessions is forbidden (no matter if done with a camera or a mobile phone) Persons who will not observe this rule will be excluded from the session by the chairpersons

Late programme changesAll contents are up-to-date as per date of printing For changes in the scientific programme which occurred after the printingdeadline, please consult the website: https://2018 eshg org/index php/programme2018/late-programme-changes/

LanguageThe official language of the congress will be English (no simultaneous translation)




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Smoking PolicyThe ESHG 2018 is officially a “No-smoking-Conference” Note that smoking is banned in public buildings and private businesses – including restaurants, pubs, shops, public transport, entertainment venues and workplaces

Social Media GuidelinesPlease see our full policy on our website The ESHG supports the use of social media around the European Human Genetics Conference to network with your colleagues and friends attending the meeting Please do however respect the ESHG social media guidelines The views and opinions posted on ESHG’s social media do not necessarily reflect the views, opinions, or policies of the ESHG, its Board or membership The ESHG reserves the right to remove comments it deems to be inappropriate

Milan – General Information

Bank services – Money mattersBanks are generally open from Monday to Friday from 8 30 a m to 1 30 p m , and an hour and a half in the afternoon between 2 30 and 4 40 (closed on Saturdays and Sundays) Some branches are open from 9 00 – 12 00 hrs on Saturdays There are multiple bank machines (ATMs) open 24 hours a day throughout the city which accept all major international bankcards Major credit cards are widely accepted, but please always check beforehand

V.A.T.The VAT rate in Italy is 22% The ESHG charges VAT on the registration fees All stated prices charged by the ESHG include VAT

Emergency ServicesEuropean Emergency Number: 112

Pharmacies – Medical EmergenciesMost pharmacies are open during normal trading hours, a rotational service is in place The following pharmacies are open 24/7: Farmacia della Stazione (Stazione Centrale -Piazza Duca D’Aosta, Phone:+39 02 63470362); Farmacia Stazione Porta Genova (Porta Genova – Piazzale Stazione Genova 5, Phone:+39 02 58101634)

Safety – CrimeMilan is a relatively safe, secure city However, use of common sense is (always) required, as in any large city Experience has shown that some basic precautionary measures should always be kept in mind in any city:– Do not carry important items like flight tickets, passports etc with you when visiting the conference or strolling through the city, leave them in the hotel safe

during your stay Rather carry a Xerox copy of your passport or an identity card with you – Try not to carry all documents, money, credit cards and other essential items and valuables in one bag or purse If it is lost or stolen, everything will be gone

and might be difficult to replace on short notice, especially passports and visa to return to your country of residence – Take off your name badge when leaving the conference centre – In heavily frequented tourist zones and the metro at rush hour, be aware of attemps of scam and pickpocketing – Do not respond to anybody unknown to you who comes up to you on the street engaging you in a conversation, no matter how safe they appear to be

Telephone callsThe country code of Italy is 39 and the area code for Milan is 02 If calling a number in Milan from within Italy (including Milan!), dial 02 before the subscriber number

GSM Cell Phone RoamingRoaming charges within the European Union have officially been abolished The EU “roam like at home” rules mean that when you use your mobile phone while travelling outside your home country in any EU country you don’t have to pay any additional roaming charges You benefit from these rules when calling (to mobile and fixed phones), sending text messages (SMS) and using data services while abroad

Time ZoneItaly’s time zone is Central European Summer Time (CEST) – GMT +2 hours

Drinking waterThe tap water in Milan can be used without concern

Electricity Supply220-240 V – 50Hz AC, using CEI 23-50, CEI 23-5, some (older) sockets will not accept CEE 7/7 plugs, however in modern installations multiple standard sockets have been used

TaxisTaxis in Milan are not exactly cheap, as in most Italian cities The meter should only be started as you set off Many of them do not take credit cards Inquire before boarding Round up the tip to the nearest euro Taxis cannot be hailed in the street There are ranks (a white sign marked with a black ‘TAXI’) at Piazza del Duomo, Teatro La Scala and Castello Sforzesco, outside all airport terminals and at the train stations Most taxi drivers speak a little English and are usually only too happy to make recommendations of sights, shops and restaurants If you speak to them in Italian, they will rapidly become your new best friend Avoid bogus taxi drivers at the airports; they often over-charge by as much as 600 percent Always go to the ranks outside the terminals Licensed and metered taxis are white with yellow and black signs on top

TippingTipping is quite flexible in Milan as the ‘coperto’ (cover charge)/service charge is automatically added in the bill However, if you are happy with the service then tipping the staff is acceptable Taxi drivers, theatre and cinema usherettes, luggage handlers are also given a token amount as a tip for their services, but you are not compelled to do so


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What is covered by the registration fee?

Participants:• Admission to all scientific sessions, exhibition and networking mixer• Electronic abstract book and printed programme• Coffee/Tea during breaks from Saturday, June 16 to Tuesday, June 19

Guests (family members only):• Access to the poster exhibition and the networking mixer

(no admission to scientific sessions!)

Payment of Registration fees, may be made in EURO by:• Credit Cards: Diners Club, Mastercard and Visa• Cash in Euro

IMPORTANT NoteThe reduced registration fee is only applicable, if it has also been paid to the congress account meeting the according deadlines.Registering without performing an actual payment will automatically set your balance to the fee applicable onsite.

Cancellations and refundsNotice of cancellation had to be made in writing by email or fax to the Congress Office Registration fees may be refunded as follows:Written cancellation received:– before April 6, 2018: 75% refund– between April 7 and May 31, 2018: 25% refund– after May 31, 2018: no refund

The cancellation will not be effective until a written acknowledgement from the ESHG Conference Registration Department is received In the case of over-payment or double payment, refund requests must be made in writing and sent to the ESHG Conference Registration Department by email No refunds will be granted for unattended events or early termination of attendance, in case of cancellation of speakers, lack of space in the conference room or any other incidents during the conference, which are beyond the control of the conference organisers Participants are requested to make their own arrangements for health and travel insurance The conference fee does not include insurance

No exceptions to the refund policy can be made, including health or family issues, however, we welcome substitute delegates at any time By registering to the ESHG 2018 participants agree that neither the organising committee nor the congress office assume any liability whatsoever Participants are requested to make their own arrangements for health and travel insurance The conference fee does not include insurance

Registration Fees1

Payment received:

before April 6, 2018

(reduced rate)

from April 7 to May 31, 2018 (regular rate)

after May 31, 2018

and on site

Day Tickets on site

Participants ESHG Members EUR 320 - EUR 420 - EUR 480 - EUR 160 -

Participants Non-Members EUR 480 - EUR 580 - EUR 640 - EUR 220 -

Postgraduate Trainees ESHG Members2 EUR 210 - EUR 310 - EUR 370 - EUR 140 -

Postgraduate Trainees Non- Members2 EUR 320 - EUR 420 - EUR 480 - EUR 160 -

Counsellors/Gen Nurses ESHG Members3 EUR 210 - EUR 310 - EUR 370 - EUR 140 -

Counsellors/Gen Nurses Non-Members3 EUR 320 - EUR 420 - EUR 480 - EUR 160 -

Students4 EUR 110 - EUR 160 - EUR 210 - EUR 100 -

ESHG Members from underprivileged countries5 EUR 210 - EUR 210 - EUR 210 - EUR 100 -

Non-Members from underprivileged countries5 EUR 280 - EUR 280 - EUR 280 - EUR 120 -

Lunch bags/boxes per day6 EUR 16 - to 23,- EUR 16 - to 23,- N/A N/AParticipants/

GuestsStudents/

Postgrad TraineesNetworking Evening at own expense EUR 55 - EUR 35 -1Registration Fees include 22% Italian VAT 2 Applies to MSc./PhD students working towards a degree in human genetics or an associated field. Please provide a confirmation signed by the head of department at the moment of your registration at the registration desk Confirmations handed in at a later stage cannot be considered.

3Applies to non-MD/PhD-Counsellors 4 Applies to undergraduate students. Please provide a copy of a Student’s ID or a confirmation signed by the head of department at the moment of your registration Confirmations handed in at a later stage cannot be considered.

5Applies to a selected list of countries.6Not available onsite

Please see also the General Terms & Conditions for participants: https://2018.eshg.org/index.php/general-terms-and-conditions


INFORMATION NETWORKING EVENTS

INFORMATION LIST OF EXHIBITORS

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Opening Networking Mixer

Saturday, June 16, 2018, 20.00 - 21.30 hrs – Outside Balcony and Main Entrance (at the registration area in case of bad weather)Network with your colleagues at this mixer on Saturday evening Drinks and small snacks will be offered The networking mixer is free of charge, however admission is only possible for registered participants.

ESHG Networking Evening (at own expense)

Monday, June 18, 2018, 20.00 hrs – Club AlcatrazThe networking evening is a great opportunity to meet with friends and colleagues from around the world in a relaxed atmosphere, enjoying the unmatched charm and fascination of Milan Those who have shared this evening with us in previous years know, one would not want to miss it

• Ticket: EUR 55 -• Students: EUR 35 -

Dinner & drinks are included in the price Dress code: casual

10x Genomics 436ACTIVE MOTIF 554ADS Biotec 624Advanced Analytical Technologies 282Agilent Technologies 310American Society of Human

Genetics – ASHG 548AstraZeneca 549Asuragen 482Beckman Coulter 576BGI Genomics 246Bio Molecular Systems 314bio logis Genetic Information

Management 316Bioarray 545BioDiscovery 430BIOKE 456Biological Industries (BI) 412Bionano Genomics 416BioRep 632Bluebee 368Blueprint Genetics 426Breda Genetics 390Canon BioMedical 346CeGaT 486CELEMICS 530CENTOGENE 362CEQAS - see GenQA 570CGC Genetics 518Charles River 556Chroma Technology 618Congenica 332COPAN GROUP 334Covaris 460Devyser 366Diatech Pharmacogenetics 586Digital China Health Technologies 420DNA Genotek 472Dovetail Genomics 450Edge BioSystems 516Elucigene Diagnostics 480

EMQN – see European Molecular Genetics Quality Network 440

enGenome 374ENZO 326Eppendorf 384ESHG - European Society

of Human Genetics 428European Molecular Quality

Network (EMQN) 440Eurofins Biomnis - Co-exhibitor of

Eurofins Genoma 376Eurofins Genoma 376Eurofins Genomics 452EvolveGene 612Fabric Genomics 364Face2Gene 338FDNA - see Face2Gene 338FLUIDIGM 544Frontiers in Genetics 620Fulgent Genetics 322GE Healthcare 262Gelisim Medical Laboratories

Genetics Diagnostic Center 555Genalice 444GeneConsult 538GENETEK BIOPHARMA 372GENEWIZ 474Genial Genetics 344Genialis 553Genome Diagnostics Nijmegen 242Genomed SA 610Genomed Ltd 448GenomeScan 458Genomic Vision 236GenQA 570Genycell Biotech - Co-exhibitor of

Edge BioSystems 516GEPADO - Co-exhibitor of PASS

Software 438Golden Helix 312Hamilton Bonaduz, Robotics 352Health in Code 478

Illumina 540Imegen 386IMPC – see International Mouse

Phenotyping Consortium 280INTEGRAGEN GENOMICS 392Integrated DNA Technologies (IDT) 568Interactive Biosoftware 418International Mouse Phenotyping

Consortium (IMPC) 280Intomics 320Invitae 476Irvine Scientific 238Isohelix 342JSI medical systems 260Lexogen 348LGC 524Life & Brain 566Limbus Medical Technologies 424Lucigen Corporation 562Macrogen Europe 330MédiFirst 252Medirex 422MediSapiens 250Menarini Silicon Biosystems 550Merck 616Metabolon 552MetaSystems Italy 522MNG Laboratories 268Molecular Biology Systems 414MRC-Holland 572NanoString Technologies 264New England Biolabs 454NimaGen 370NIPD Genetics 382Norgen Biotek 378Novogene 636Orphanet - INSERM US14 547Oxford Gene Technology 240Oxford Nanopore Technologies 488PacBio 336Paragon Genomics 358Parseq Lab 582

Partek Incorporated 630Pass Software 438PC PAL - PedigreeXP 318PCR Biosystems 532PerkinElmer 442Personal Genomics 551PhenoSystems 380Platomics 614Premaitha Health 484Progeny Genetics 536Promega 542qGenomics 557QIAGEN 244Qlucore 388Randox Biosciences 434REFERENCE LABORATORY

GENETICS 534Resnova - Co-exhibitor

Bio Molecular Systems 314Retrophin 446Roche Sequencing Solutions 230RuRo 634Saphetor 234SISTEMAS GENÓMICOS 578SoftGenetics -

Co-exhibitor of BIOKÉ 456SOPHiA GENETICS 528Springer Nature 462Stilla Technologies 248Swift Biosciences 324Technogenetics 584Theragen 410Thermo Fisher Scientific 350Twist Bioscience 266Variantyx 432Wellcome Genome Campus

Advanced Courses and Scientific Conferences 560

Westburg 622Wisepress Medical Bookshop 130Zymo Research Europe 328


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INFORMATION EXHIBITION

For Research Use only. Not for use in diagnostic procedures.MAGNA PURE is a trademark of Roche.© 2018 Roche Sequencing Solutions, Inc. All rights reserved. SEQ100238

Visit sequencing.roche.com for more information.

Roche Sample Prep SolutionsUnlock the potential of every sample

All NGS samples are precious, not only because most samples cannot be collected twice, but also due to the intrinsic value of the molecular information contained within each sample. As the first step in the NGS workflow continuum, Sample Prep holds the key to unlocking the potential of every sample. Roche Sample Prep Solutions offer an integrated approach to Sample Prep, addressing all of the steps required to convert a sample to a sequencing-ready library.

From sample collection to library quantification, we offer Sample Prep solutions for different sample types and sequencing applications that are proven, simple and complete.

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Exhibition & Poster Area – Level 0 – Dates & Opening Hours

Saturday, June 16, 2018: 09 30 – 18 30 hrsSunday, June 17, 2018: 09 00 – 17 45 hrsMonday, June 18, 2018: 09 00 – 17 45 hrsTuesday, June 19, 2018: CLOSED

Products & Services Index

The Index of Products and Services may be found in the ESHG App Download the App, for iOS or Android, from iTunes App Store and Google Play Store

Exhibition Catalogue & Corporate Satellites Invites and Programmes

The Exhibition Catalogue & Corporate Satellites book, in your conference bag, lists exhibitors with further information on the companies and products, as well as invites to the corporate satellites, and their programmes

Floor Plan – Exhibition & Poster Topics

You will find the floor plan of the Exhibition and Poster Topics in your conference bag

Posters – Mounting, Viewing & Removal Schedules

Poster presentations will be held in the exhibition hall from 16 – 18 June Poster mounting, viewing and removal times are:Saturday, June 16, 2018: 09 30 – 18 30 hrs Poster mounting / viewingSunday, June 17, 2018: 09 00 – 17 45 hrs Poster viewingMonday, June 18, 2018: 09 00 – 17 45 hrs Poster viewing

16 45 – 17 45 hrs Poster removal – Groups A–C (strict!)17 45 – 18 00 hrs Poster removal – Group D (strict!)

Posters not removed by 18 00 hrs on Monday, June 18 will be removed and will not be stored or sent to authors after the meeting but discarded

Coffee Breaks, Cash Bar, Lunch

Official coffee breaks, as per the final programme, will be held in the Exhibition hall on Saturday, Sunday and Monday Also outside the official coffee break times there will be free coffee and tea in the exhibition hall The Cash Bar in the Exhibition hall is open during exhibition opening hours The menu includes sandwiches, salads, pasta, drinks and special coffees The menu is available at the Cash Bar Payment in cash (EURO) or credit card Pre-ordered lunch bags will be available during lunch breaks at the coffee break areas Lunch bags cannot be ordered on-site

Lead Retrieval System used by Companies

Many companies will be using a so-called Lead Retrieval System on their stands and at the entrance to their corporate satellites Note the following please:• Companies using the device HAVE to ask permission to scan the barcode on your badge

Refusal to have your badge scanned does not entitle a company to deny you access to their corporate satellite and/or to enter an activity at their stand

• This barcode gives this company access to your contact details as follows (note: only in case you opted for this during the registration process AND if agreed with the company scanning your badge): o name and full postal address o e-mail address

Thank you for your understanding and cooperation

Exhibition Management

Name ROSE INTERNATIONALExhibition Management & Congress Consultancy bv

Address P O Box 93260NL-2509 AG The Hague, the Netherlands

Telephone +31 (0)70 383 89 01Fax +31 (0)70 381 89 36 E-mail eshg@rose-international com

For Research Use only. Not for use in diagnostic procedures.MAGNA PURE is a trademark of Roche.© 2018 Roche Sequencing Solutions, Inc. All rights reserved. SEQ100238

Visit sequencing.roche.com for more information.

Roche Sample Prep SolutionsUnlock the potential of every sample

All NGS samples are precious, not only because most samples cannot be collected twice, but also due to the intrinsic value of the molecular information contained within each sample. As the first step in the NGS workflow continuum, Sample Prep holds the key to unlocking the potential of every sample. Roche Sample Prep Solutions offer an integrated approach to Sample Prep, addressing all of the steps required to convert a sample to a sequencing-ready library.

From sample collection to library quantification, we offer Sample Prep solutions for different sample types and sequencing applications that are proven, simple and complete.

Uncover a world of possibilitiesTransforming the future of genomics, together

Experience the iSeqTM 100 Sequencing System The iSeq 100 System is our smallest, most affordable sequencer, letting you expand the scope of your research without the cost.

Introducing AmpliSeqTM for Illumina Learn how AmpliSeq for Illumina provides researchers with a high-confidence solution to detect variants with flexible input ranges and sample types.

Attend the Illumina Satellite Workshop Sunday, 17 June | 19.15 – 20.45 | Amber 3 & 4

Visit us at booth 540 at ESHG 2018 to learn about our latest advancements in genomic solutions. From whole-genome sequencing to single cell sequencing, we have solutions across the genomic spectrum.

For Research Use Only. Not for use in diagnostic procedures.© 2018 Illumina, Inc. All rights reserved. www.illumina.com

EUROPEAN HUMAN GENETICS CONFERENCE 2018 · European Human Genetics Conference 2021 Glasgow, United...

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