NO CODE

NO CODE, NO NAME, NO EXISTENCEAnnet van Betuw

ECRD, Luxemburg, 22 June 2005

Chromosome Help-Station

European Chromosome 11q Network

ECRD 22 June 05 Chromosome Help-Station 2

NO CODEThis presentation:

Who What can be done

Example: chromosome 11q deletion

Next steps

ECRD 22 June 05 Chromosome Help-Station 3

NO CODE No code, no name, no existence?

ECRD 22 June 05 Chromosome Help-Station 4

The European Chromosome 11q network – no code > code

At start: 11q disorders described in headlines, some articles, no code, no contacts, feeling alone

Network: 1996 USA, 1997 Europe

Partial trisomies, terminal deletions, interstitial deletions, unbalanced translocations

Persons with a very rare chromosome disorder find each other and can be found! Interesting for research.

Contact to research, conference Europe 1998, 17 families – 7 countries

50 % of members: 11q terminal deletion / Jacobsen Syndrome

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11q network NEEDED: ENERGY, PEOPLE, MONEY 1998 conference financial support EU Later: companies, universities,

government, families, public health insurance

Planning, agreements, coordination Active communication Good companionship parents,

research

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11q network Active

communication Jan 1997 website

www.11q.org Flyer network Newsletters Telephone E-mail

Constant support paediatrician/researcher deletion 11q

Support medical committee

Conferences Europe 1998 – 2000 – 2002 – 2004 – 2007

Reports meetings! Meetings NL 97, 2003, Spain

2004 Conferences USA 96,

98, 2000, 2004 Cooperation with

other networks Eurordis Eurochromnet

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Code: Jacobsen Syndrome – 11q deletion

COOPERATION WITH RESEARCHERS SAN DIEGO (Uk, France, etc) NIJMEGEN, MAASTRICHT etc

Publications in scientific magazines > 110 persons with 11q deletion Translation into Spanish on website

Conferences show problems in daily life: sleep, behaviour, communication

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Characteristics 11q deletion disorder

Loss of the end of the long arm of 11q (11q23>ter, 11q24>ter)

Possible: Heart problems Kidney problems Bleeding disorders

(Paris Trousseau)= blood platelets

Undescended testicles Infections

Short stature ‘Droopey eyes’ Low set ears Pointing forehead Learning difficulties Late speech Challenging behaviour Etc

Occurrence: 1:50.000 or 1:100.000

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Practical translation into leaflet thanks to

Unique and dr Paul

Grossfeld

CODE June 2005

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11q network Europe 2005: ca 75 members, 12 European

countries 50 % of known children have a terminal

deletion disorder Meeting 2004: 36 families, 11 countries, 144

people Next steps:

More knowledge needed on daily life More knowledge needed about other rare 11q

disorders Occurrence ?????

Finances

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NO CODE ?

Conclusions CODE = NAME = KNOWN Recognition, knowledge, cooperation 1:1.000 births = rare chromosome

disorder Do not wait, continue networking,

start walking

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Next steps rare chromosome disorders

Cooperation within Eurordis and Eurochromnet

Substantial finances Sponsors? Translators, website

Cooperation with researchers like ECARUCA

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NEEDED CODES No code, no name, no existence?

ECRD 22 June 05 Chromosome Help-Station 14

(NO) CODE

THANK YOU

www.11q.orgwww.chromosomehelpstation.com

www.chromosomehelpstation.com/eurochromnet.htm