Muge Gucsavas-Calikoglu, MD, MPH 1

CURRICULUM VITAE

Muge Gucsavas-Calikoglu, M.D., M.P.H. EDUCATION and TRAINING 8/1997 - 12/2004 Masters of Public Health (MPH),

Department of Epidemiology, School of Public Health, University of North Carolina at Chapel Hill

7/1996 - 7/1999 National Research Service Award Primary Care Fellow, Cecil G. Sheps Center for Health Services Research, University of North Carolina at Chapel Hill, Residency in Preventive Medicine, Department of Social Medicine, University of North Carolina at Chapel Hill

1/1995 - 1/1996 Residency in Pediatrics (PL-III), Department of Pediatrics, University of North Carolina at Chapel Hill

10/1991 - 10/1993 Fellowship in Clinical Genetics, HA Chapman Institute of Medical Genetics, Tulsa, Oklahoma

10/1985 - 12/1989 Residency in Pediatrics, Department of Pediatrics, University of Hacettepe, Faculty of Medicine, Hacettepe Children's Hospital, Ankara, Turkey

9/1977 - 6/1983 M.D., University of Ankara, Faculty of Medicine, Ankara, Turkey

PROFESSIONAL EXPERIENCE Employment History and Appointments: 5/2012 - present Associate Director,

Medical Genetics Residency Training Program, Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina at Chapel Hill, North Carolina

5/2011 - 5/2014 Director, Medical Biochemical Genetics Residency Training Program, Division of Genetics and Metabolism, Department of Pediatrics University of North Carolina at Chapel Hill, North Carolina

9/2008 - present Clinical Associate Professor, (full-time), Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, North Carolina

Muge Gucsavas-Calikoglu, MD, MPH 2

10/2003 - present

Clinical Assistant Professor, (full time), Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, North Carolina

9/2000 - 10/2003 Clinical Assistant Professor, (part-time) (0.5 FTE),

Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, North Carolina

9/2000 - 10/2003 Clinical Assistant Professor, (part-time) (0.25 FTE), Division of Community Pediatrics, Department of Pediatrics, University of North Carolina at Chapel Hill, North Carolina

7/1996 - 9/2000 Attending Physician, Pediatric Emergency Department, Division of Community Pediatrics, Department of Pediatrics University of North Carolina at Chapel Hill, North Carolina

10/1993 - 8/1994 Clinical Geneticist, H. Allen Chapman Institute of Medical Genetics Children’s Medical Center, Tulsa, Oklahoma

8/1989 - 9/1991 Instructor in Pediatrics, Department of Pediatrics, University of Hacettepe, Child Health Institute, Ankara, Turkey

7/1988 - 7/1989 Chief Resident, Department of Pediatrics, University of Hacettepe, Faculty of Medicine, Hacettepe Children's Hospital, Ankara, Turkey

10/1985 - 7/1988 Resident in Pediatrics, Department of Pediatrics, University of Hacettepe, Faculty of Medicine, Hacettepe Children's Hospital, Ankara, Turkey

8/1983- 9/1985

General Practitioner, Maternal Child Health Center of Uluborlu, Isparta, Turkey

CERTIFICATION AND LICENSURE

American Board of Medical Genetics: Medical Biochemical Genetics, 2009 Clinical Genetics, 1996, recertified 2006, 2008, 2010 American Board of Pediatrics, 1996, recertified 2003 and 2010 Board of Medical Examiners, State of North Carolina, 1994, license # 9600149, expires 4/21/2017 Education Commission for Foreign Medical Graduates, Diploma, 1991, unlimited Turkish Board of Pediatrics, 1991, unlimited Medical Doctor, Turkish Ministry of Health, unlimited

Muge Gucsavas-Calikoglu, MD, MPH 3

HONORS and AWARDS

July 2015 Ankara University Faculty of Medicine Alumni Teaching Award

June 2013

October 2011 – present

April 2008 – present

UNC Hospitals – James Emonson Faculty Teaching Award Top Regional Doctor in Clinical Genetics-Castle Connolly Medical Academy of Educators- Associate Fellow University of North Carolina School of Medicine at Chapel Hill

BIBLIOGRAPHY AND PRODUCTS OF SCHOLARSHIP Books and Chapters: Couser N, Gucsavas-Calikoglu M (2017). Mitochondrial disorders. In:Garg U, Smith LD (2017) Eds. Elsevier Press. Biomarkers in Inborn Errors of Metabolism, First edition Print ISBN 9780128028964 pp 167-190 DOI;http://dx.doi.org/10.1016/B978-0-12-802896-4.00008-0 Referred papers/articles: Couser NL, Marchuk D, Smith L, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas- Calikoglu M, Powell CM. Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome. American Journal of Medical Genetics Part A. (In press) Accepted: 14 June 2017 DOI: 10.1002/ajmg.a.38351 Chinsky J, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Diagnosis and Treatment of Tyrosinemia Type I: A United States and Canadian Consensus Group Review and Recommendations. Genetics in Medicine (In press) Accepted 5 May 2017 Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW21, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL44, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Collaborators : Amaral M, Amendola L, Appelbaum PS, Aronson SJ, Arora S, Azzariti DR, Barsh GS, Bebin EM, Biesecker BB, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Brown BL, Burt AA, Byers PH, Caga-Anan CF, Calikoglu MG, Carlson SJ, Chahin N, Chinnaiyan AM, Christensen KD, Chung W, Cirino AL, Clayton E, Conlin LK, Cooper GM, Crosslin DR, Davis JV, Davis K, Deardorff MA, Devkota B, De Vries R, Diamond P, Dorschner MO, Dugan NP, Dukhovny D, Dulik MC, East KM, Rivera-Munoz EA, Evans B, Evans JP, Everett J, Exe N, Fan Z, Feuerman LZ, Filipski K, Finnila CR, Fishler K, Fullerton SM, Ghrundmeier B, Giles K, Gilmore MJ, Girnary ZS, Goddard K, Gonsalves S, Gordon AS, Gornick MC, Grady WM, Gray DE, Gray SW, Green R, Greenwood RS, Gutierrez AM, Han P, Hart R, Heagerty P, Henderson GE, Hensman N, Hiatt SM, Himes P, Hindorff LA, Hisama FM, Ho CY, Hoffman-Andrews LB, Holm IA, Hong C, Horike-Pyne MJ, Hull S, Hutter CM, Jamal S, Jarvik GP, Jensen BC, Joffe S, Johnston J, Karavite D, Kauffman TL, Kaufman D, Kelley W,

Muge Gucsavas-Calikoglu, MD, MPH 4

Kim JH, Kirby C, Klein W, Knoppers B, Koenig BA, Kong SW, Krantz I, Krier JB, Lamb NE, Lambert MP, Le LQ, Lebo MS, Lee A, Lee KB, Lennon N, Leo MC, Leppig KA, Lewis K, Lewis M, Lindeman NI, Lockhart N, Lonigro B, Lose EJ, Lupo PJ, Rodriguez LL, Lynch F, Machini K, MacRae C, Manolio TA, Marchuk DS, Martinez JN, Masino A, McCullough L, McEwen J, McGuire A, McLaughlin HM, McMullen C, Mieczkowski PA, Miller J, Miller VA, Mody R, Mooney SD, Moore EG, Morris E, Murray M, Muzny D, Myers RM, Ng D, Nickerson DA, Oliver NM, Ou J, Parsons W, Patrick DL, Pennington J, Perry DL, Petersen G, Plon S, Porter K, Powell BC, Punj S, Breitkopf CR, Raesz-Martinez RA, Raskind WH, Rehm HL, Reigar DA, Reiss JA, Rich CA, Richards CS, Rini C, Roberts S, Robertson PD, Robinson D, Robinson JO, Robinson ME, Roche MI, Romasko EJ, Rosenthal EA, Salama J, Scarano MI, Schneider J, Scollon S, Seidman CE, Seifert BA, Sharp RR, Shirts BH, Sholl LM, Siddiqui J, Silverman E, Simmons S, Simons JV, Skinner D, Spinner NB, Stoffel E, Strande NT, Sunyaev S, Sybert VP, Taber J, Tabor HK, Tarczy-Hornoch P, Taylor DM, Tilley CR, Tomlinson A, Trinidad S, Tsai E, Ubel P, Van Allen EM, Vassy JL, Vats P, Veenstra DL, Vetter VL, Vries RD, Wagle N, Walser SA, Walsh RC, Weck K, Werner-Lin A, Whittle J, Wilfond B, Wilhelmsen KC, Wolf SM, Wynn J, Yang Y, Young C, Yu JH, Zikmund-Fisher BJ. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American Journal of Human Geneticst. 2016 Jun 2;98(6):1051-66. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Human Molecular Genetics 2014 Sep 15;23(18):5009-16. doi: 10.1093/hmg/ddu218. Epub 2014 May 8. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, Rossi A, Whiteman DA, Kimura A. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genetics in Medicine 2011 Feb;13(2):95-101. *Kranz C, *Basinger AA [*contributed equally], Güçsavaş-Çalıkoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH: Expanding Spectrum of Congenital Disorder of Glycosylation Ig (CDG-Ig): Siblings with Prenatal-Onset Skeletal Dysplasia, Hypogammaglobulinemia, Cardiac and Genital Malformations, and Fatal Outcome. American Journal of Medical Genetics Part A 143A(12):1371-1378, Jun 15, 2007.

Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Molecular Genetics Metabolism. 2007 Mar;90(3):329-37. Epub 2006 Dec 20. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghan S, Wendt S, Puga AC, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Kimura A. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genetics in Medicine 2006; 8:465-73 Quigley DI, Sailus J, Kaiser-Rodgers, K, Rao KW, Calikoglu M, Gold S, McCandless SE. A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47, XX,+3. American Journal of Medical Genetics Part A. 2005 Jan 1;132(1):101-5 Muenzer J, Towle D, Calikoglu M, McCandless S. A phase I/II study evaluating the safety and clinical activity of enzyme replacement therapy in Mucopolysaccharidosis II (Hunter syndrome). American Journal of Human Genetics. 2002;71:582.

Muge Gucsavas-Calikoglu, MD, MPH 5

Hartmann KE, Calikoglu MG. Trampoline injuries in children (letter). Pediatrics. 1999; 103(6):1311-1312. Gopal Rao VVN, Carpenter NJ, Gucsavas M, Coldwell J, Say B. Brief clinical report: Partial trisomy 3q identified by sequential fluoroscence in situ hybridization. American Journal of Medical Genetics 1995;58(1):50-53. Calikoglu AS, Gucsavas Calikoglu M. Teething problems. Surekli Tip Egitimi Dergisi. 1995;4:127-133. (Turkish) Gogus S, Gucsavas M, Akcoren Z. Subacute necrotizing encephalopathy (Leigh syndrome): report of juvenile cases with fatal outcome. Turkish Journal of Pediatrics 1994; 36:57-64. Say B, Gucsavas M, Morgan M, York C. The Costello syndrome. American Journal of Medical Genetics. 1993;47(2):163-165. Published Abstracts: Refugee Health in the United States: Need for Increased Awareness of Inborn Errors of Metabollism and Genetic Diseases. Gucsavas-Calikoglu, M., Elrefai S, McClure J, Hall C. Poster Presentation. American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting. March, 2017. Phoenix, AZ Leahy P, Gucsavas-Calikoglu M, Powell C. Phenotypic variability of autosomal dominant supravalvular aortic stenosis: a novel elastin mutation. American College of Medical Genetics Annual Clinical Genetics Meeting. March 21-25, 2017. Phoenix, Arizona.

Palliative Care in Inborn Errors of Metabolism: Multidisciplinary Experience at a Major Teaching Hospital, Gucsavas-Calikoglu, M, Sartor, N, Dillon E. Poster Presentation. American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting. March, 2015. Salt Lake City, Utah. Hudson, BA, & Gucsavas-Calikoglu, M. Coping in Mitochondrial Disease. Platform Presentation American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting. March, 2013. Phoenix, Arizona. Hudson, BA, Hodge, JC, Wheeler, F, Kaiser-Rogers, K, and Gucsavas-Calikoglu, M. Partial trisomy 2q36.1qter and partial monosomy 6p25.3pter in a child with dysmorphic features and developmental delay: a case report. Poster Presentation American College of Medical Genetics Annual Clinical Genetics Meeting. March, 2011. Vancouver, British Columbia. Gucsavas-Calikoglu M, Frazier DM, Young S, Millington D, “2,4-dienoyl CoA reductase deficiency : a novel neurometabolic disease” . Presented at the annual meeting of The American Society of Human Genetics, November 4, 2010, Washington, DC. Available from: http://www.ashg.org/genetics/ashg10s/index.shtml

Gucsavas-Calikoglu M, Frazier DM, Young S, Millington D, “Combined 2,4-dienoyl CoA reductase deficiency and hyperlysinemia: a novel neurometabolic disease” Presented at the annual meeting of The American College of Medical Genetics, March 26, 2010, Albuquerque, NM AZ. Available from: http://submissions.miracd.com/acmg/contentsInfo.aspx?

Muge Gucsavas-Calikoglu, MD, MPH 6

Manickam K, Gucsavas-Calikoglu M, Moldenhauer J, Vargo D, Crowe C, Powell C, Aylsworth A. [abstract 24]. Chondrodysplasia punctata and maternal mixed connective tissue disease. Presented at the annual meeting of The American College of Medical Genetics, March 16, 2008, Phoenix, AZ. Available from: http://submissions.miracd.com/acmg/contentsInfo.aspx?conID=732

Basinger AA, Kranz C, Gucsavas-Calikoglu M, Powell CM, Henderson FW, Freeze HH, Ayslworth AS. Expanding spectrum of CDG-Ig: Siblings with prenatal-onset skeletal dysplasia, B-cell lymphopenic hypogammaglobulinemia, cardiac and genital malformations, and fatal outcome. [abstract 1392]. Presented at the annual meeting of The American Society of Human Genetics, October 11, 2006, New Orleans, Louisiana. Available from: http://www.ashg.org/genetics/ashg06s/index.shtml

Gucsavas-Calikoglu M, Koepke J, Tennison M, Greenwood R, Muenzer J [abstract 1396]. Chronic subdural hematomas in a male with ornithine transcarbamylase deficiency. Presented at the annual meeting of The American Society of Human Genetics, October 12, 2006, New Orleans, LA. Available from: http://www.ashg.org/genetics/ashg06s/index.shtml

Muenzer J, Wraith E, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Calikoglu M, Vijayaraghavan S, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Wendt S. The phase II/III I2S enzyme replacement (ERT) clinical trial results for MPS II. [abstract 198]. Presented at the annual meeting of The American Society of Human Genetics, October 28, 2005, Baltimore, MD. Available from : http://www.ashg.org/genetics/ashg05s/index.shtml Frazier, DM, Basinger, AA, Calikoglu, MG, Muenzer, J, Maternal 3-MCC Deficiency Diagnosed Secondary to Elevated 3-OH Isovaleryl Carnitine on Tandem Mass Spectrometry Newborn Screening in North Carolina, Abstracts of the 2005 Newborn Screening and Genetic Testing Symposium. 2005: 53. Basinger A, Pendyal S, Frazier D, Koepke J, Gucsavas-Calikoglu M, Muenzer J. The spectrum of methylmalonic academia detected by MS/MS newborn screening in North Carolina. [abstract 1439]. Presented at the annual meeting of The American Society of Human Genetics, October 26, 2005, Salt Lake City, UT. Available from : http://www.ashg.org/genetics/ashg05s/index.shtml Muenzer J, Calikoglu M, Towle D, McCandless S, Kimura A. The one year experience of enzyme replacement therapy for Mucopolysaccharidosis II (Hunter Syndrome). [abstract 2670]. Presented at the annual meeting of The American Society of Human Genetics, November 6, 2003, Los Angeles, CA. Available from: http://www.ashg.org/genetics/ashg03s/index.shtml Muenzer J, Towle D, Calikoglu M, McCandless S. A phase I/II clinical study evaluating the safety and clinical activity for enzyme replacement therapy in Mucopolysaccharidosis II (Hunter Syndrome). [abstract 2414]. Presented at the annual meeting of The American Society of Human Genetics, October 15-19, 2002, Baltimore, MD. Available from: http://www.ashg.org/genetics/ashg02s/index.shtml

Gopal Rao VVN, Harris S, Shassere C, Van Stedum S, Gucsavas M. Significance of fluorescent in situ hybridization (FISH) studies as an adjunct to the conventional cytogenetics. Annual Meeting of the Great Plains Genetic Services Network, St Louis, USA, 1993.

Coldwell JG, Gucsavas M, Say B, Carpenter NJ. An infant with karyotype 46, XX, del(2)(q37) and severe congenital malformations. Am J Hum Genet.1992; 51:A301.

Gucsavas M, Say B, Morgan H, York C. The Costello syndrome: another case. Am J Hum Genet.1992; 51:A304.

Yordam N, Calikoglu AS, Acikgoz E, Gucsavas M. Retrospective analysis of the 191 patients with congenital adrenal hyperplasia. 34th National Congress of Pediatrics, Eskisehir-Turkey, September 1990.

Muge Gucsavas-Calikoglu, MD, MPH 7

Yordam N, Calikoglu AS, Acikgoz E, Gucsavas M. Congenital adrenal hyperplasia in Turkey: A retrospective analysis of 191 patients. 30th Annual Meeting of the European Society of Pediatric Endocrinology, Berlin, Germany, August 25-28, 1991. (Published in Hormone Research 33 (suppl 3), 41, 1990) Presentations/Posters: Gucsavas-Calikoglu M, Elrefai S, McClure J. Refugee Health in the United States: Need for Increased Awareness of Inborn Errors of Metabolism and Genetic Diseases. American College of Medical Genetics Annual Clinical Genetics Meeting. March 21-25, 2017. Phoenix, Arizona.

Leahy P, Gucsavas-Calikoglu M, Powell C. Phenotypic variability of autosomal dominant supravalvular aortic stenosis: a novel elastin mutation. American College of Medical Genetics Annual Clinical Genetics Meeting. March 21-25, 2017. Phoenix, Arizona.

Genetic counseling and treatment strategies for teenage girls with Fabry disease. American College of Medical Genetics Annual Clinical Genetics Meeting. March 21-25, 2017. Phoenix, Arizona. Keelean-Fuller D, Beal M, Chelminski P, Gucsavas-Calikoglu M. Development of a Genetics and Metabolism Curriculum for a New Physician Assistant Program. American College of Medical Genetics Annual Clinical Genetics Meeting. March 8-12, 2016. Tampa, Florida. Girnary Z, Foreman K, Powell C, Aylsworth A, Strande N, Gucsavas-Calikoglu M, Milko L, O'Daniel J, Booker J, Boshe L, Couser N, Frazier D, Roche M, Vora N, Berg J, Powell B. Weight and see: A systematic overview of category rankings within the semi-quantitative metric of the NC NEXUS project. American College of Medical Genetics Annual Clinical Genetics Meeting. March 8-12, 2016. Tampa, Florida. Gucsavas-Calikoglu M, Dellon EP, Sartor N. Palliative care in Inborn Errors of Metabolism: Multidisciplinary experience at a major teaching hospital. American College of Medical Genetics Annual Clinical Genetics Meeting. March 23-27, 2015. Salt Lake City, Utah. Hudson, BA, Gucsavas-Calikoglu M. Coping with Mitochondrial Disease. Oral Presentation. American College of Medical Genetics Annual Clinical Genetics Meeting. March 21-25, 2013. Phoenix, Arizona. Hudson, BA, Hodge, JC, Wheeler, F, Kaiser-Rogers, K, and Gucsavas-Calikoglu, M. Partial trisomy 2q36.1qter and partial monosomy 6p25.3pter in a child with dysmorphic features and developmental delay: a case report. Poster Presentation American College of Medical Genetics Annual Clinical Genetics Meeting. March 16-20, 2011. Vancouver, British Columbia. Waage-Baudet H, Gucsavas-Calikoglu M. Adult presentation of mitochondrial disease – autoimmune polyendocrinopathy with myopathy. Poster Presentation: American College of Medical Genetics Annual Clinical Genetics Meeting. March 16-20, 2011. Vancouver, British Columbia. Keelean-Fuller D, Gucsavas-Calikoglu M, Kaiser-Rogers K. A unique 6.9 Mb duplication of 19p13.13 to p13.11 associated with cutis aplasia: genetic counseling implications. Poster Presentation: American College of Medical Genetics Annual Clinical Genetics Meeting. March 16-20, 2011. Vancouver, BC.

Gucsavas-Calikoglu M, Frazier DM, Young S, Millington D, “2,4-dienoyl CoA reductase deficiency: a novel neurometabolic disease”. Poster presentation. American Society of Human Genetics Annual Meeting, November 4, 2010, Washington, DC.

Muge Gucsavas-Calikoglu, MD, MPH 8

Gucsavas-Calikoglu M, Frazier DM, Young S, Millington D, “Combined 2,4-dienoyl CoA reductase deficiency and hyperlysinemia: a novel neurometabolic disease”. Poster presentation. American College of Medical Genetics Annual Clinical Genetics Meeting, March 26, 2010, Albuquerque, NM AZ.

Keelean-Fuller D, Gucsavas-Calikoglu M, Wheeler F, Kaiser-Rogers K. A case of a complex rearrangement of the Y chromosome resulting in either deletion or duplication of every gene on the Y chromosome: a genetic counseling and cytogenetic dilemma. Poster Presentation: American College of Medical Genetics Annual Clinical Genetics Meeting. March 24-28, 2010. Albuquerque, NM.

Frazier D, Gucsavas-Calikoglu M, Young S, and Millington D, Detecting 2,4 dienoyl CoA Reductase Deficiency by MS/MS Newborn Screening. ICIEM, San Diego CA, 2009 Manickam K, Gücşavaş-Calikoġlu M, Moldenhauer J, Crowe C, Powell CM, Aylsworth AS. Chondrodysplasia punctata and maternal mixed connective tissue disease: prenatal, postnatal, and maternal findings. Poster Presentation. American College of Medical Genetics annual meeting, March 2008, Phoenix, AZ.

Keelean-Fuller D, Ayslworth AS, Gucsavas-Calikoglu M, Koepke J. Deletion of 2q37: Report of Four New Cases and Review of the Literature. Poster Presentation: National Society of Genetic Counselors Annual Education Conference. October 12-16, 2007. Kansas City, MO. Gucsavas-Calikoglu M, Koepke J, Tennison M, Greenwood R, Muenzer J [abstract 1396]. Chronic subdural hematomas in a male with ornithine transcarbamylase deficiency. Poster Presentation. American Society of Human Genetics Annual Meeting, October 12, 2006, New Orleans, LA.

Basinger AA, Kranz C, Gucsavas-Calikoglu M, Powell CM, Henderson FW, Freeze HH, Ayslworth AS. Expanding spectrum of CDG-Ig: Siblings with prenatal-onset skeletal dysplasia, B-cell lymphopenic hypogammaglobulinemia, cardiac and genital malformations, and fatal outcome. [abstract 1392]. Poster presentation. American Society of Human Genetics A, October 11, 2006, New Orleans, Louisiana.

*Basinger AA, *Kranz C, [*contributed equally], Wright L, Gucsavas-Calikoglu M, Powell C, Henderson FW, Freeze HH, Aylsworth AS: Prenatal and Postnatal Phenotypes of Severe Cdg-Ig: A Congenital Disorder of Glycosylation Presenting with Skeletal Dysplasia and Immune Deficiency. Presented (by ASA) at the 27th David W. Smith Workshop on Malformations and Morphogenesis, Sept. 2006, Lake Arrowhead, CA. Muenzer J, Wraith E, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Calikoglu M, Vijayaraghavan S, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Wendt S. The phase II/III I2S enzyme replacement (ERT) clinical trial results for MPS II. [abstract 198]. Presented at the annual meeting of The American Society of Human Genetics, October 28, 2005, Baltimore, MD. Available from http://www.ashg.org/genetics/ashg05s/index.shtml

Basinger A, Pendyal S, Frazier D, Koepke J, Gucsavas-Calikoglu M, Muenzer J. The spectrum of methylmalonic academia detected by MS/MS newborn screening in North Carolina. [abstract 1439]. Presented at the annual meeting of The American Society of Human Genetics, October 26, 2005, Salt Lake City, UT. Available from http://www.ashg.org/genetics/ashg05s/index.shtml

Muenzer J, Calikoglu M, Conway AM, Kimura A. The long-term experience of enzyme replacement therapy for Hunter syndrome (MPS II). SSIEM Annual Symposiem 2005, Paris, France.

Muenzer J, Calikoglu M, Towle D, McCandless S, Kimura A. The one year experience of enzyme replacement therapy for Mucopolysaccharidosis II (Hunter Syndrome). [abstract 2670]. Presented at the annual meeting of The American Society of Human Genetics, November 6, 2003, Los Angeles, CA. Available from http://www.ashg.org/genetics/ashg03s/index.shtml

Muge Gucsavas-Calikoglu, MD, MPH 9

Muenzer J, Towle D, Calikoglu M, McCandless S. A phase I/II clinical study evaluating the safety and clinical activity for enzyme replacement therapy in Mucopolysaccharidosis II (Hunter Syndrome). [abstract 2414]. Presented at the annual meeting of The American Society of Human Genetics, October 15-19, 2002, Baltimore, MD. Available from http://www.ashg.org/genetics/ashg02s/index.shtml

Master’s thesis: October 24, 2004 Genetic Polymorphisms of MTHFR, Folate supplementation and

risk of preterm birth Advisor; Andrew Olshan, PHD Department of Epidemiology, UNC School of Public Health, Chapel Hill

Other Scholarly activities:

Digital scholarship:

The Balancing Act: Appearance on Lifetime television show as metabolic expert for discussion of a rare inborn error of metabolism, Hereditary Tyrosinemia on November 20, 2015. “Tyrosinemia (HT-1): Ultra-rare,life-threatening and treatable”. Available at http://www.thebalancingact.com/ht-1-awareness/ Mystery Diagnosis: Appearance on television for Discovery Health Channel program for a teenager with a rare inborn error of metabolism, CPT-II deficiency, April 2009, currently in re-runs TEACHING ACTIVITIES

Program Directorship:

June 2012 - Present Associate Program Director, UNC Medical Genetics Residency Training Program

May 2011 – May 2014 Program Director, UNC Medical Biochemical Genetics Residency Training Program

(I developed a GME Program application in 2012 and received ACGME accreditation for this new subspecialty. Resubmission in progress)

Course Teaching at University of North Carolina School of Medicine at Chapel Hill

1. Medical students Translational Education at Carolina (TEC) Curriculum (2015-present) Patient Centered Care

Group leader, 7-8 students, one afternoon a week per semester, 3 semesters, 9 % salary support

8/2017 – 12 2017 Patient Centered Care Part 3

Muge Gucsavas-Calikoglu, MD, MPH 10

1/2017 – 5/2017 Patient Centered Care Part 2

1/2016 – 1/2016 Patient Centered Care Part 1

8/2015 – 12/2015 Patient Centered Care Part 3 UNC School of Medicine Curriculum (prior to 2015) 2002 - 2015 MEDI 244 – Reproductive Medicine and Genetics

Small Group Leader, yearly course for MS II, sessions on cytogenetics,molecular genetics, genetic counseling

2001 – 2015 MEDI 140 – Molecules to Cells Curriculum Small Group Leader, fall semester course for MS-I, 1 hour sessions for Phenylketonuria, Duchenne Muscular Dystrophy, Lysosomal storage disorders, Glycogen storage disorders

2002 - 2007 MEDI 220 - Clinical Epidemiology Curriculum Small Group Leader, spring semester course for MS-II

2002 - 2007

MEDI 230 - Tools for Diagnosis and Therapy- epidemiology component Small Group Leader, one week course for MS-II

1999 – 2000 MEDI 136 – Introduction to Clinical Medicine Small Group Leader, yearly course for MS-I

1997 - 1998

MEDI 220 – Clinical Epidemiology Curriculum Small Group Leader, yearly course for MS-II

2. Physician Assistants

UNC School of Medicine, Department of Allied Health Sciences Physician Assistant Program PASC 703 Foundations of Medical Science, Credit: 2 hours Novel program for introduction to the genetic and molecular mechanisms of disease; biochemistry; microbiology. Instruction in the genetic basis of disease and clinical genetic disorders will serve as a foundation for the Clinical Medicine Courses (PASC 710,720, 730) to understand genotypic specific diagnoses, prevention, and therapy. The biochemistry and microbiology modules will additionally prepare students to apply the knowledge and principles to gain an improved understanding of organ systems and related diseases in the Clinical Medicine Courses (PASC 710,720, 730). Total – 10 hour lecture time 1 review session, Exam for Biochemistry Also co-teacher for similar Genetics section with Debbie Kellan-Fuller, MS,CGC Spring 2017 Session

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February 6, 2017 Introduction to Biochemical Genetics for Physician Assistants

February 7, 2017 Emergency management of Metabolic Disorders

February 8, 2017 Newborn screening for Physician Assistants

February 8, 2017 Small Group – Case review

February 9, 2017 Specific Metabolic Disorders Spring 2016 Session January 13, 2016 Small Group – Genetics, Inheritance, Cytogenetics, Common

Genetics Diseases

January 19, 2016 Introduction to Biochemical Genetics for Physician Assistants

January 20, 2016 Emergency management of Metabolic Disorders

January 20, 2016 Small Group – Case review

January 21, 2016 Newborn screening for Physician Assistants

January 22, 2016 Specific Metabolic Disorders – Part 1

January 22, 2016 Specific Metabolic Disorders – Part 2 Fall 2016- PA Clinical Pediatric Course - Didactic lectures November 7, 2016 Genetic conditions relevant for PAs

Metabolic conditions relevant for Pas

Lectures and Seminars:

a) Students at University of North Carolina School of Medicine: TEC Curriculum April 18, 2016 Biochemical Genetics, TEC curriculum April 28, 2015 Biochemical Genetics, TEC curriculum – MS I

MED 140 – Molecules to Cells Course- MS I

September 13, 2014 Biochemical Genetics September 13, 2013 Biochemical Genetics September 12, 2012 Biochemical Genetics September 16, 2011 Biochemical Genetics September 22, 2010 Biochemical Genetics September 25, 2009 Biochemical Genetics

MED 244- Reproductive Medicine and Genetics Course

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Block 9, MS II March 26, 2008

Introduction to Metabolic Disorders Small group leader for Genetics/ cytogenetics/ metabolic disorders MS III- Pediatrics Curriculum

2006-2010 Common Genetics Syndromes- - once every 4 weeks

b) Pediatrics Residents: part of Pediatric Residency Curriculum Acute Care and Genetic Lecture Series

July 14, 2017 Metabolic Emergencies August 31, 2016 Newborn Screening in North Carolina for Pediatric residents July 7, 2016 May 22, 2016

Metabolic Emergencies Common pediatric syndromes for pediatricians

September 16, 2015 Newborn screening for pediatric residents August 20, 2015 Genetic Resources for Pediatric residents February 17, 2015 Urea Cycle Disorders for Pediatricians February 16, 2015 Fatty Oxidation Disorders for Pediatricians February 9, 2015 Organic Acidemias for Pediatricians July 30, 2014 Diagnosis and Treatment of Metabolic Disorders in Pediatrics July 17, 2013 Diagnosis and Treatment of Metabolic Disorders in Pediatrics May 13, 2013 July 22, 2012

Organic acidemias for Pediatricians Diagnosis and Treatment of Metabolic Disorders in Pediatrics

July 11, 2011 Metabolic Emergencies September 2, 2010 Diagnosis and Treatment of Metabolic Disorders in Pediatrics September 12, 2009 Metabolic Emergencies

August 24, 2008 Metabolic Emergencies

June 4, 2008 Diagnosis and Treatment of Metabolic Disorders in Pediatrics

July 24, 2006 Metabolic Emergencies March 3, 2006 Fatty Acid Oxidation Disorders February 28, 2006 August 2, 2005

Inborn Errors of Metabolism: Specific Organ Systems and Diagnostic Approach Metabolic Emergencies

c) Other Department Residents at University of North Carolina School of Medicine–Chapel Hill (Dermatology, Emergency Medicine, Neurology, Nephrology, Obstetrics/Gynecology (Maternal-Fetal Medicine, Pathology, Psychiatry)

UNC Pediatric Neurology Residency Genetics curriculum:

October 20, 2015 Organic acidemias for pediatric neurologists September 23, 2015 Urea Cycle disorders for pediatric neurologists January 25, 2010 Organic Acidemias: the role of the neurologist January 21, 2010 Urea cycle disorders for neurologists April 9, 2008 Congenital Disorders of Glycosylation for neurologists February 25, 2008 Organic acidemias: the role of the neurologist October 9, 2007 Fatty Acid Oxidation Disorders for Neurologists

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September 10, 2007 Aminoacid Pathway Disorders for Neurologists May 4, 2007 Pediatric Teratogens and Neurology April 27, 2007 Common Genetic Syndromes in Neurology April 16, 2007 Genetic and Neurological Evaluation of Children with Autism December 6, 2006 Urea Cycle Disorders for Neurologists

UNC Pediatric Intensive Care Unite Genetics Lecture Series

April 30, 2015 Metabolic Disorders in the Pediatric Intensive Care Unit: Part 2 April 23, 2015 Metabolic Disorders in the Pediatric Intensive Care Unit: Part 1

UNC Pediatric Emergency Fellows Lecture Series

February 9, 2017 Metabolic Disorders in the Emergency Department: recent cases August 8, 2015 Metabolic Disorders in the Emergency Department

UNC Pediatric Endocrinology - Genetics Joint Lecture Series

June 8, 2016 Ambigous genitalia; genetic and endocrine perspectives December 7, 2015 Cytogenetics for endocrinologists October 1, 2015 Genetic evaluation of Short Stature UNC Department of Obstetrics and Gynecology, Maternal Fetal Medicine Resident lecture series April 17, 2017 Inborn errors of metabolism for Maternal Fetal Medicine specialists February 16, 2016 Inborn errors of metabolism and Pregnancy-Update January 17, 2014 Inborn Errors of Metabolism and Pregnancy-Part 1 February 17, 2014 Inborn Errors of Metabolism and Pregnancy- Part 2 January 23, 2012 Inborn Errors of Metabolism and Pregnancy UNC Department of Psychiatry Residency Curriculum, Child Psychiatry Fellows lecture Series May 31, 2017 Common Genetic Syndromes and role of the Child Psychiatrist May 24, 2017 Inborn errors of Metabolism and role of the Child Psychiatrist December 12, 2011 Common Genetic Syndromes and role of the Child Psychiatrist October 14, 2011 Inborn errors of Metabolism and role of the Child Psychiatrist

UNC Department of Emergency Medicine Residency Curriculum February 24, 2011 Diagnosis and Treatment of Metabolic Disorders in the ED June 4, 2008 Diagnosis of Metabolic Disorders in the ED December 12, 2006 Evaluation and management of metabolic disorders in the emergency

room UNC Department of Internal Medicine Residency Curriculum February 24, 2009 Long term management of metabolic diseases in adults UNC Preventative Medicine Fall Seminar Series October 5, 2016 Newborn screening for Preventative Medicine Residents

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Other Departments January 14, 2008 Inborn Errors of Metabolism and Nephrology, Department of

Nephrology Residency Curriculum December 19, 2007 Inborn Errors of Metabolism and Dermatological Findings, Department

of Dermatology Residency Curriculum Department of Pathology May 13, 2016 Genetic evaluation of Fetal and Perinatal Autopsies August 31, 2007 Genetic evaluation of Fetal and Perinatal Autopsies October 20, 2015 Newborn screening for Pathologists d) Genetics Fellows and Genetics Faculty:

Current Topics in Medical and Human Genetics Continuing Medical Education Series

May 4, 2017 Unusual case from PICU: Familial viral myocarditis and genetic etiology

January 17, 2017 Greater Middle East region and impact of consanguinity on gene discovery

April 28, 2016 Changing interpretation of microarrays: implication for patients

December 3, 2015 Diagnostic Odyssey in Pediatric Genetics: review of current data and projections with exome sequencing

April 23, 2015 Autism and Genetics: An update after an unusual patient

November 6, 2014 Autism and Stem Cell Therapies: hype, hope, science and ethics

April 17, 2014 Congenital Disorders of Glycosylation: Diagnostic Dilemmas

January 4, 2014 Fetal Holoprosencephaly

October 10, 2013 Mystery Diagnosis: the role of whole exome sequencing

February 7, 2013 Neuronal migration disorders – Diagnostic challenges

October 25, 2012 Folate and the brain

May 10, 2012 Reproductive technologies and the risk of birth defects

February 22, 2012 Tyrosine hydroxylase deficiency: severe infantile case

December 15, 2011 Evaluation of Marfan syndrome in teenagers

October 26, 2011 Dilated cardiomyopathy in infants and genetic etiology

October 13, 2011 Smith Lemli Opitz Syndrome and hospice care

September 30, 2011 Ethical considerations of expanded newborn screen

April 21, 2011 Simpson Golabi Behmel syndrome

March 3, 2011 A review of causal heterogeneity in ASD

February 21, 2011 A Diagnostic Puzzle: CDG 1 A

October 28, 2010 Alternating Hemiplegia in Children

September 29, 2010 Newborn screening: update and ethical issues

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June 3, 2010 Incontinentia Pigmenti

March 11, 2010 Autosomal Recessive Primary Microcephaly

December 4, 2009 Sociocultural aspects of genetic diagnosis and disability

October 12, 2009 Colpocephaly and etiology

January 15, 2009 Oculocutaneus Albinism and Hermansky-Pudlack Syndrome

September 12, 2008 Inpatient Hospitalizations secondary to Inborn Errors of Metabolism

February 16, 2008 Tetrahydrobiopterin treatment: a new drug and current challenges

September 13, 2007 Leber Hereditary Amaurosis: should we screen children with autism for retinal disorders?

January 7, 2007 Familial leukodystrophy: Vanishing White Matter disease or a new syndrome?

UNC GENETICS Fellows Lecture series

February 25, 2016 Mitochondrial disorders for genetic fellows December 9, 2015 Metabolic disorders for genetic fellows March 7, 2013 Urea Cycle disorders and Organic Acidemias November 16, 2012 Mitochondrial Disorders: Biochemistry and clinical presentation March 4, 2011 Urea cycle disorders: biochemistry, genetics, presentation and management October 21, 2010 Organic acidemias: biochemistry, genetics, presentation and management

B. INVITED LECTURES

a. Grands Rounds at UNC - Department of Pediatrics

January 7, 2016 Bedside to bench – POLG Disorders- jointly with Bill Copeland, PhD

October 23, 2014 A Novel Metabolic Disorder: a Scientific and Personal Journey

November 21, 2013 Newborn Screening Program in North Carolina

May 17, 2012 Pediatric Ethics lecture: a preterm infant with Cornelia de Lange syndrome and end-of-life choices

April 7, 2011 Improvements in the identification of chromosomal disorders

March 24, 2011 Morbidity and Mortality conference, Balancing Safety with Uncertainty: Discussion of metabolic conditions mimicking child abuse

b. Grand Rounds outside UNC:

October 14, 2015 Newborn Screening in North Carolina for Pediatricians, Department of Pediatrics, East Carolina University School of Medicine, Greenville, NC

October 9, 2015 Metabolic disorders: Clinical Laboratory Day –Yearly Symposium of

North Carolina Public Health Laboratories, Raleigh

June 10, 2015 Newborn Screening in North Carolina for Pediatricians, AHEC Moses Cone Hospital Pediatric Program, Greensboro, NC

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April 7, 2015 Newborn Screening for Primary Care Providers in North Carolina, North Carolina Pediatric Society Spring Forum, Raleigh

March 24, 2015 Child Abuse and Genetic Disorders, UNC Child Abuse Team (Statewide

Webinar), Chapel Hill April 10, 2013 Newborn screening and the role of primary care providers: the North

Carolina Experience, Rex Hospital Pediatric Grand Rounds, Raleigh, NC March 22, 2013 Genetic Diagnoses Commonly Seen in the NICU Neonatal Nursing

Update Conference, The Friday Center, Chapel Hill, NC March 18, 2013 Metabolic Disorders and Laboratory Diagnosis, National General

Pediatrics Symposium, Uludag University Faculty of Medicine, Bursa, Turkey

March 14, 2013 Metabolic Disorders in Pediatrics, National Physician’s Day Symposium,

Ankara University Faculty of Medicine, Ankara, Turkey September 29, 2010 NC Child Advocacy Center Sixteenth Annual Symposium on Child

Abuse and Neglect. Lake Junaluska, NC. When to Call a Genetics Consult? When is child abuse a metabolic disorder?

September 30, 2009 Wake AHEC- Pediatric Grand Rounds-Interesting metabolic cases from

UNC Metabolism Clinics November 5, 2009 Genetics 101 for Neonatal Nurse practitioners, Neonatal Nurse

Practitioners Review Course, Tampa, FL April 18, 2008 Caring for children with with Metabolic Disorders and their families

Nursing in the Genomics Area Conference, University of North Carolina School of Nursing, Chapel Hill, NC

November 15, 2007 Caring for Critically Ill Children with Metabolic Disorders

Hot Topics in Critical Care Nursing Continuing Education Conference, The Friday Center, Chapel Hill, NC

August 8, 2007 Mucopolysaccharidoses: Diagnosis and Treatment Modalities

University of Oklahoma, College of Medicine, Tulsa Campus, Tulsa, OK August 8, 2007 Common Genetic Syndromes, University of Oklahoma, College of

Medicine, Tulsa Campus, Pediatrics Residency Program, Tulsa, OK January 26, 2007 Metabolic Conditions and Challenges in Children,

Pediatric Update for Nurses, UNC School of Nursing Continuing Education, William Friday Center, Chapel Hill, NC

March 14, 2007 Metabolic Emergencies, Cape Fear Valley Medical Center and Southern

Regional AHEC, Fayetteville, NC March 14, 2007 Common Genetics Syndromes, Cape Fear Valley Medical Center and

Southern Regional AHEC, Fayetteville, NC

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February 2, 2007 Metabolic Emergencies, Third Annual Pediatric Emergency Medical

Conference, Wake AHEC Andrews Center, Raleigh, NC

b. Other Invited lectures

November 8, 2017 Pathway to promotion at UNC for fixed term faculty, Department of Anesthesia Faculty Development series

February 8, 2017 Mitochondrial disorders diagnosis and management for child

neurologists, North Carolina Neurological Society Annual Meeting, Pinehurst, NC

November 8, 2016 Pathway to promotion at UNC for fixed faculty, Department of

Anesthesia Faculty Development series October 28, 2016 A novel metabolic disorder: a personal and scientific journey, North

Carolina Genetics Association Semi-Annual Meeting, Chapel Hill February 19, 2016 Management of Mitochondrial Disorders in children and adults, United

Mitochondrial Disease Foundation Regional Symposium, Duke University, Durham NC

Ankara University Faculty of Medicine Department of Pediatrics Genetics Summer Course, Ankara, Turkey

3 day summer course- 2 hour lectures daily with also patient consultations

July 31, 2015 Common Genetic Syndrome in Pediatrics

July 29, 2015 Introduction to cytogenetics and microdeletions syndromes

July 27, 2015 Introduction to genetics and basic resources

Carolina Institute for Developmental disabilities- T32 Neurodevelopmental Fellows Lecture Series

April 14, 2017 Lysosomal storage disorders

May 6, 2015 Cytogenetics and neurodevelopment: an update

April 29, 2015 Lysomal storage disorders

June 17, 2013 Mitochondrial Disorders and Pulmonary complications: Lessons learned at UNC, Pediatric Pulmonology Lecture Series

April 3, 2013 Lysosomal Storage Disorders, Carolina Center for Developmental Disabilities (CIDD)

April 23, 2012

Status of Women in Turkey: A Historical and Personal Journey, Turkish-American Association of North Carolina, Turkish House, Chapel Hill, NC

January 19, 2011 Genetics: Common Myths and Reality, Turkish-American Association of North Carolina, Apex, NC

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September 28, 2010 Newborn Screening: Discovery and Disclosure Issues N781- Genomics and Society lecture

October 29, 2009 Women and Science in Turkey, Speaker and Panelist, Turkish-American Association of North Carolina, Symposium and Celebration of 85th Anniversary of the Turkish Republic, Kenan-Flagler Business School, Chapel Hill

November 5, 2007 MECP2 duplication in males North Carolina Medical Genetics Association Fall Meeting , University of North Carolina at Chapel Hill

September 16, 2006

Community Genetics Forum 2006, Discussion Leader, Genetic Enhancement and Designer Babies: Can We, Should We? North Carolina School of Science and Mathematics, Durham, NC

September 15, 2006 Community Genetics Forum 2006, Discussion Participant “Finding the Genome: Group Interests in Genetic Research and Testing”, UNC, Chapel Hill

May 13, 2006 Community Genetics Forum 2006, “Finding the Genome: Fact and Fantasy” Discussion leader for Film Series “The Madness of King George” Durham County Public Library, Southeast Branch, Durham, NC

February 18, 1999 Genetics and Health Services Research, Medical Genetics Seminar, UNC c. Continuing Education Series at UNC UNC Hospital Nursing Lectures (as part of UNC Hospitals Pediatric Nursing Orientation Program or Pediatric Intensive Care Unit Inservice sessions) December 6, 2010 Metabolic Disorders and Nursing Challenges September 20, 2010 Metabolic Disorders and Nursing Challenges April 19, 2010 Metabolic Disorders and Nursing Challenges October 12, 2009 Metabolic Disorders and Nursing Challenges April 22, 2009 Metabolic Disorders and Nursing Challenges October 7, 2008 Metabolic Disorders and Nursing Challenges May 6, 2008 Metabolic Disorders and Nursing Challenges November 19, 2007 Metabolic Disorders and Nursing Challenges September 17, 2007 Metabolic Disorders and Nursing Challenges

Urea Cycle Disorders and Specific Nursing Issues April 30, 2007 Metabolic Disorders and Nursing Challenges

Urea Cycle Disorders and Specific Nursing Issues November 27, 2006 Metabolic Disorders and Nursing Challenges September 25, 2006 Metabolic Disorders and Nursing Challenges

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December 5, 2005 Urea cycle disorders and Nursing management in the Intensive Care Unit

November 4, 2005 Urea cycle disorders and Nursing management in the Intensive Care Unit

UNC Hospital nurses (Medical Intensive Care Unit Nursing Education Series) April 20, 2010 Mitochondrial Disorders and Nursing Challenges

d. Panels: August 15, 2016 Career opportunities in genetics, UNC Medical Genetics Interest Group October 29, 2015 Career opportunities in genetics, UNC Medical Genetics Interest Group April 5, 2011 “Career Opportunities in Genetics and Reproductive Medicine” MED 244, MS II Reproductive Medicine and Genetics Course e. Clinical teaching : 2000-present Medical Genetics and Pediatrics residents rotating in Pediatric Genetic and Metabolism clinic UNC-CH and visiting 3rd and 4th year medical students rotating in Pediatric Genetics and Metabolism clinic UNC-Greensboro Genetic Counseling Students rotating in Pediatric Genetics and Metabolism clinic Clinical Cytogenetics and Molecular Genetics fellows rotating in Pediatric Genetics and Metabolism clinic f. Attending on Clinical Service/ activities: Pediatric Metabolism Inpatient and Metabolism Consultation service: 3/2015-present 12-16 weeks per year including week and weekend coverage 3/2009 – 3/2015 26 weeks per year including week and weekend coverage 2007- 2009 16 weeks per year including week and weekend coverage 2003- 2007 20 weeks per year including week and weekend coverage Pediatric Genetics/Dysmorphology Consultation service: 3/2015-present 12-16 weeks per year including week and weekend coverage 2001- 3/2015 4-6 weeks per year including week and weekend coverage Pediatric Emergency Room Attending: 1996-2004: Week and weekend 8- 12 hour shift coverage- 3-4 shifts a week Current Clinical Service: 0. 42 Clinical FTE Outpatient: 2 -2 ½ full days (4-5 half days) a week for 45 weeks per year General Metabolism Clinic at UNC: one full day (two half day clinics) per week

General Genetics clinic at Rex Pediatric Specialty Clinics: one full day (two half day clinics) per week

Galactosemia clinic at UNC; one half day clinic per month Mitochondrial Disorders clinic: one half day clinic per month We will also see Newborn screen positive infants within 24 hour of identification through the NC Newborn screening program as add-on patient beyond the regular clinic schedule.

Muge Gucsavas-Calikoglu, MD, MPH 20

New Outpatient Clinical Initiative: Mitochondrial Disease Clinic - September 2011 (one half day clinic per month)-present This is the only clinic dedicated to patients with mitochondrial disorders within North Carolina and neighboring states. There is significant patient demand for further expansion of this service. g. Student Preceptor/Advisor Postdoctoral Fellows and Medical Genetics Residents: Kent McKelvey, MD, July 2001- June 2003 Alice Basinger, MD, PhD, July 2003- June 2006 Zheng Fan, MD, July 2004 - June 2006 Murugu Manickam, MD, July 2006 - June 2008 Jennifer Humberson, MD, January 2007 - December 2008 Heather Baudet, MD, PhD, July 2009 - August 2011 Bernadette Wildemore, MD, July 2012 - July 2013 Natario Couser, MD, July 2013- December 2016 Pete Leahy, MD, July 2016- present h. Other 2014-present Mentor for UNC Medical students through American Medical Women Association at UNC-CH g. UNC undergraduate students UNC Honors College Career Panel Series February 11, 2017 Panelist / Mentor for UNC Honors college students October 21, 2016 Mentor for UNC Honors College students, June 20, 2016 Mentor for UNC Honors College students, February 13, 2016 Mentor for UNC Honors College students, June 23, 2015 Mentor for UNC Honors College students, August 24, 2014 Mentor for UNC Honors College students,

GRANTS AND CONTRACTS

Active Grants: UNC NCCBDRP/NBDPS/BDSTEPS Grant: CDC 5U01DD001036; cooperative agreements under PA 96043, PA02081 and FOA DD09-001 from the Centers for Disease Control and Prevention to the Centers for Birth Defects Research and Prevention participating in the National Birth Defects Prevention Study(NBDPS) with “North Carolina Center for Birth Defects Research and Evaluation (NCCBDRP)” at University of North Carolina at Chapel Hill. BD-STEPS grant is Birth Defects Study to Evaluate Pregnancy Exposures (BD-STEPS). It includes analyses with NBDPS data. July 1, 2016- present 7% FTE Role: Investigator 1-U19-HD077632-01 (Powell and Berg) 9/5/2013-8/31/2018 5% FTE NICHD and NHGRI $5,885,220 NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening In this pilot project, researchers will identify, confront and overcome the challenges that must be met in order to implement genomic sequencing technology to a diverse newborn population. The researchers will sequence the exomes of healthy infants and infants with known conditions such as phenylketonuria, cystic fibrosis or other disorders involving metabolism. Their goal is to help identify the best ways to return

Muge Gucsavas-Calikoglu, MD, MPH 21

results to doctors and parents. The investigators will the explore the ethical, legal and social issues involved in helping doctors and parents make informed decisions, and develop best practices for returning results to parents after testing. The researchers will also develop a tool to help parents understand what the results mean and examine extra challenges that doctors may face as this new technology is used. This study will place a special emphasis on including multicultural families.

Role: Investigator

Completed Grants: 1-U01-HG006487-01(Evans) 12/5/11-11/30/15 3% FTE National Center for Human Genome Research $1,107,847 NC GENES: NC Clinical Genomic Evaluation by NextGen Exome Sequencing In this project we outline a highly inter-disciplinary approach to identifying, confronting and overcoming the major challenges which must be met in order to implement deep sequencing technology in clinical medicine.

Role: Investigator

Active Contracts: UNC TEC curriculum August 2015- present 9% FTE Teaching Administrative support for Patient Centered Care Curriculum

030450 (Pandya) 6/1/17-5/31/18 50% FTE NC DHHS-DPH $674,354 UNC-Genetics Services Contract The primary purpose of this contract is to provide high level genetic services for patients and families with highly complex needs which neither Medicaid nor other third party payers will cover. The major medical center will provide diagnostic, clinical, management and counseling for genetic conditions for select number of patients within targeted service region.

Role: Co-Investigator, Metabolic and clinical geneticist

Completed Contracts: 030450 (Pandya) 6/1/16-5/31/17 50% FTE NC DHHS-DPH $674,354 UNC-Genetics Services Contract The primary purpose of this contract is to provide high level genetic services for patients and families with highly complex needs which neither Medicaid nor other third party payers will cover. The major medical center will provide diagnostic, clinical, management and counseling for genetic conditions for select number of patients within targeted service region.

Role: Co-Investigator, Metabolic and clinical geneticist

030450 (Powell) 6/1/15-5/31/16 50% FTE NC DHHS-DPH $674,354 UNC-Genetics Services Contract The primary purpose of this contract is to provide high level genetic services for patients and families with highly complex needs which neither Medicaid nor other third party payers will cover. The major medical center will provide diagnostic, clinical, management and counseling for genetic conditions for select number of patients within targeted service region.

Role: Co-Investigator, Metabolic and clinical geneticist

030450 (Powell) 6/1/14-5/31/15 50% FTE NC DHHS-DPH $674,354 UNC-Genetics Services Contract

Muge Gucsavas-Calikoglu, MD, MPH 22

The primary purpose of this contract is to provide high level genetic services for patients and families with highly complex needs which neither Medicaid nor other third party payers will cover. The major medical center will provide diagnostic, clinical, management and counseling for genetic conditions for select number of patients within targeted service region.

Role: Co-Investigator, Metabolic and clinical geneticist

01862-12 (Powell) 6/1/13-5/31/14 48% FTE NCDHHS-DPH $781, 000 The UNC-Genetics Services Contract grant has received continuous support since 1970

Industry Sponsored Clinical Trials

2005-2007 Sub-investigator

"An Open-Label Extension of Study (TKT024EXT) Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy.” PI: Joseph Muenzer, MD, PhD, funded by Transkaryotic Therapies, Cambridge, MA, J. Muenzer, P.I., $584,856 (25% effort).

2005-2007 Sub-investigator

"An Open-Label Maintenance Clinical Study (TKT018) of Iduronate-2-Sulfatase Enzyme Replacement Therapy in patients with MPS II.”, funded by Transkaryotic Therapies, Cambridge, MA. PI: Joseph Muenzer, MD, PhD, $438,062 (25% effort).

2001-2005 Principal investigator "Intravenous Sodium Benzoate/ Sodium Phenylacetate for

Treatment of Episodic Hyperammonemia in Patients with Urea Cycle Disorders." Ucyclyd Pharma, Inc., No financial funding, This was a compassionate use protocol

2003-2005 Sub-investigator;

A Phase II/III, Randomized, Double-Blind, Placebo-Controlled Clinical Study Evaluating the Safety and Efficacy of Weekly and Bi-weekly Dosing Regimens of Iduronate-2-Sulfatase Enzyme Replacement Therapy in Patients with MPS II (TKT024), funded by Transkaryotic Therapies Inc., Cambridge, MA, J. Muenzer, P.I., $705,106 (25 % effort)

2002-2004 Sub-investigator 2001-2004 Sub-investigator

An Open-Label Maintenance Clinical Study of Iduronate-2-Sulfatase Replacement Therapy in Patients with MPS II (TKT018), funded by Transkaryotic Therapies Inc., Cambridge, MA, J. Muenzer, P.I., $576,031 (25 % effort) A Phase I/II, Randomized, Double-Blind, Placebo-Controlled, Multiple Dose, Dose Escalation, Safety and Clinical Activity Study of Iduronate-2-Sulfatase Replacement Therapy in Patients with MPS II (TKT008), funded by Transkaryotic Therapies Inc., Cambridge, MA, J. Muenzer, P.I., $546,824 (25 % effort)

2001-2003 A Multicenter, Multinational, Open-Label Extension Study of Safety and Efficacy of Recombinant Human Alpha-L-Iduronidase in Patients

Muge Gucsavas-Calikoglu, MD, MPH 23

Sub-Investigator/ Primary investigator *

with Mucopolysaccharidosis I, funded by BioMarin-Genzyme, (ALID006) J. Muenzer, P.I., $264,552, (25 % effort) * I became PI in 2003

PROFESSIONAL SERVICE

To discipline

State:

Treasurer, North Carolina Medical Genetics Association Member, October 2016-present

North Carolina Medical Genetics Association Member, 2001-present

North Carolina Medical Genetics Association Biochemical Genetics Committee Member, 2001-present

NC Inborn Errors of Metabolism Weekend Education Camp; 2004, 2006, 2006-Camp leader, participant

Within UNC- Chapel Hill

University of North Carolina

Faculty Governance Council- elected member representing UNC School of Medicine-Pediatrics

August 2017- May 2020- 3 year appointment

Faculty Governance Council- elected member representing UNC School of Medicine-Pediatrics

August 2013- May 2016- 3 year appointment

School of Medicine

November 2015- August 2017 Chair,

Fixed Term Professors Appointments, Promotions and Tenure Committee

September 2011- October 2015; Committee member,

Fixed Term Professors Appointments, Promotions and Tenure Committee

August 2017- October 2018 Fixed Term Professors Appointments, Promotions and Tenure Committee

Department of Pediatrics

Pediatrics Residency Selection Committee- Core Member- 2002- 2012

Hospital

Graduate Medical Education Committee, Member 2011- 2014 Other Administrative Activities:

2014 Epic Super User – Metabolism Division 2013-Present Supervisor for UNC 4th year Medical Student Genetics elective 2012-Present Supervisor for Genetics Elective of Pediatric resident 2007-2009 Clinical Genetics and Metabolism Services Group Leader for PaCE 2003-Present Development of patient care protocols for children with inborn error of

metabolism and mitochondrial disorders 2000-Present Numerous Genetic counselor selection committees 2014-2016 Mentoring committee member for Dr. Jennifer Law and Dr. Nina Jain

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Fundraising/Advocacy: PKU Picnic: One day picnic for all NC PKU patients with metabolic nutrition team for education and advocacy and family networking, 2000-present Phenylketonuria Cooking Class: One day retreat for 6 teenage patients with PKU at UNC School of Public Health Nutrition Kitchen, October 9, 2014 These Genes are Made for Walkin’: 5 K walk and fundraiser for patients with inborn errors of metabolism in NC, April 14, 2012, Bond Park, Cary, 40 000 $ raised for our metabolism program Energy For Life - October 2011- NC Chapter of the United Mitochondrial Disease Foundation- This was the second year and 150 000 $ was raised. Featured in their national newsletter as physician consultant. PROFESSIONAL SOCIETIES North Carolina Pediatric Society North Carolina Medical Genetics Association American College of Medical Genetics American Society of Human Genetics Society of Inborn Errors of Metabolism Research statement My involvement in research activities as a clinical and metabolic geneticist has been summarized in the following four areas.

1) Industry sponsored clinical trials for enzyme replacement therapies as a sub-investigator with my colleague Dr. Joe Muenzer, a world expert on lysosomal storage disorders. I gained valuable experience in the daily operations of clinical trial management and patient care. Given the rapid developments of new products in the field of metabolic genetics, there are several future opportunities to pursue new industry sponsored trials.

2) Co-investigator in NIH sponsored grants on whole exome sequencing at UNC as part of a multi-center collaborative effort with colleagues in the Department of Genetics. This is novel research with potential to change established paradigms of diagnosis and clinical management in both pediatric and adult populations. The technology is rapidly expanding and outpacing our ability to integrate the results into bedside care. My expertise as a clinical geneticist with biochemical certification and expertise is unique as an adviser and investigator in such endeavors. I am currently a co-investigator with my colleague Dr. Cindy Powell’s NIH grant on exome sequencing in newborn screening. I am actively involved in the selection of genetic conditions to be included in such an endeavor. My public health background and clinical expertise in caring for metabolic patients identified through newborn screening in North Carolina also provides me with a unique perspective for this project.

3) Collaborative efforts nationally and internationally in describing rare disorders and novel biochemical pathways and new diseases. I am most proud through persistence and collaboration with Duke, NYU and Nijmeggen University of Netherlands for having solved a 20- year diagnostic puzzle in the one and only patient with 2,3-dienoyl CoA reductase deficiency. This led to the description of a novel neuro-metabolic disorder in 2014.

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I consider such disease discovery efforts to be the hallmark of an academic geneticist and cannot wait to tackle the remaining “diagnostic puzzles” on this ever expanding patient list. With the expansion of exome sequencing technology, I am currently working on further elaboration of the pathophysiology of 2 novel syndromes. I plan to continue such national collaborations, particularly as it applies to efficient and timely diagnosis in children with developmental disabilities and complex presentations. I also aim to develop a small grant for exome sequencing of stored DNA samples from diseased patients with “undiagnosed conditions”. The field of genetics has much to offer to efficient clinical diagnosis and personalized medicine and presents numerous opportunities for collaborative efforts.

4) Exploration of risk factors contributing to birth defects. Over the past year, I have joined the National Birth Defects Prevention Study through the CDC and North Carolina Birth Defects Prevention Center and UNC School of Public Health. This is again a national collaborative epidemiological research study which has led so far to over 200 publications in the etiology of birth defects. North Carolina has been one of seven participating states. I am the clinical reviewer from a genetics perspective of all qualifying birth defects in NC and scientific adviser to participating epidemiologists and biostatisticians. I am excited to return after an interval of many years to the field of epidemiology and data analysis. I plan to develop small grants for further data analysis of novel risk factors for birth defects.

Teaching Statement My teaching responsibilities at UNC involve medical students, residents in our pediatric program, residents and fellows of the medical genetics program and residents from other departments such as Neurology, Internal Medicine, Emergency Medicine, Pathology, Psychiatry. I have been also actively involved in nursing education for pediatric nurses at UNC Children’s Hospital and ICU nurses at UNC Hospitals. I have also recently developed a novel curriculum in genetics and metabolism to the new UNC Physician Assistant program. The content of my teaching involves pediatrics, genetics and metabolism and clinical epidemiology, thus combining my expertise in all three areas. The extent of my teaching has evolved out of my clinical care observation. Over the years, I have identified specific gaps in knowledge in the above fields at the bedside and with the desire to improve team care, I have sought and been invited to numerous teaching opportunities with multiple local departments, regional groups, national and international entities. So, gaps in nursing care for metabolic inpatients led to nursing education series that are now handled by UNC health care nurses themselves. Lack of a formal curriculum in genetics and metabolism for physician assistants led to a new program at UNC. Issues with emergency management of metabolic patients led to standardized care of such patients at UNC and Wake Med. Similar and recurring educational efforts are in place for pediatric, neurology, maternal fetal medicine residents and others through UNC. I consider myself a diagnostician first and often I am called upon to consult on “mystery” cases by my colleagues in various specialties. I use these opportunities to emphasize the importance of a thorough clinical history, demonstrate physical examination skills and actively discuss the differential diagnosis of prevalent symptoms. I review the variability of clinical presentations and discuss specific pediatric, metabolic or syndromic diagnoses. I attempt to demonstrate the continuity of the clinical diagnostic process. I emphasize critical thinking and facilitate the use of the high quality educational resources on the internet. I will then challenge residents to practice evidence based medicine for diagnosis or treatment options. I also use encounters in the pediatric emergency room or intensive care unit to review emergency presentations and diagnostic challenges of such rare disorders. Then I will also discuss the basic science behind the condition and will also review the ethical and societal issues at hand.

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As an example, a consult in the neonatal intensive care unit for a premature infant with cleft palate and polydactyly can lead to a diagnosis of cholesterol synthesis defect such as Smith-Lemli-Opitz syndrome, subsequent Pubmed searches on ultimate developmental outcomes and prognosis. Meanwhile we can also discuss the nuances of treatment with dried egg powder or availability of clinical trials. This bedside process will also involve multiple family education meeting, discussions of coping with illness and disability while also coordination of short and long term care. During these interactions with residents and families, I hope to model the caring, compassionate physician who attempts to meet not only the medical but also social and psychological needs of her patients. Along the way I am a geneticist only because I want to “know” and “share” the fascinating developments of science. I am often involved with numerous presentations within campus or across the region. I see these lectures as windows of opportunity to meet with colleagues and also to de-mystify genetic or metabolic conditions and provide practical patient management advice. Although some of these lectures may seem repetitive to an outside reviewer, the audience of residents is ever changing and the content is always modified to the particular needs of the specialties whether it is psychiatry or pathology. I will always present new publications and new evidence with yearly updates given the rapid developments in my field. My goal is to be visible as a pediatrics genetics and metabolic provider across multiple disciplines in the UNC School of Medicine in order to raise awareness of rare conditions as well as represent our division. I try to emphasize practical diagnostic points in these lectures pertinent to different subspecialties and use visual aids from our vast collection of patients to facilitate diagnosis. During these numerous lectures, I strive to translate the rapidly changing science of genetics and metabolism into bedside clinical care and develop best practices for diagnosis and treatment. I attempt to inspire residents to think outside the box and show that rare diseases are actually more relevant and common than they think in major academic centers. Another aspect of my teaching has been my involvement with nursing education. With the expansion of newborn screening in North Carolina after 1997, we found ourselves taking care of severe and rare inborn errors of metabolism in a hospitalized setting. This increased inpatient load indicated a knowledge gap in the nursing curriculum for such disorders. In order to increase awareness, improve quality of care and minimize medical and nursing errors, I developed a nursing specific education program. Inborn errors of metabolism and pertinent nursing issues are reviewed in a practical manner through hourly conferences every three months to incoming pediatric nurses at UNC through the Core Curriculum of the Nursing education office. This effort also led to several other nursing lectures in an emergency room setting as well as critical care setting and has improved awareness and quality of care for such unique patient population over the past three years. I am pleased that the current UNC pediatric nursing staff is now extremely qualified and comfortable with the care of such patients. In 2012, the children’s hospital nursing staff took the initiative for their own education through a “Junior Metabolic lecture” series in memory of a former patient. I now serve as consultant for these educational activities. In 2013 I also received a UNC Hospitals Teaching award for my contribution to staff, nursing and resident education. I plan to continue these educational activities through my career at Carolina and expand beyond regional borders. I conducted a summer genetics course at my medical school in Turkey in 2015 and received an alumni award. I plan to expand such international involvement for collaboration and institutional visibility. I also look forward to taking leadership roles in the education of resident and fellows at UNC. It is an exciting time for our field with the expanding diagnostic opportunities of whole exome and genome sequencing. I can’t wait to see what lies ahead.

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SERVICE STATEMENT and REFLECTIVE STATEMENT My journey to becoming an academic pediatrician/clinical geneticist/metabolic physician, actually began in 1983 in a small village in Central Anatolia, Turkey. The first patient I ever saw as a maternal child health physician was a 4- month old infant with jaundice and hepatosplenomegaly. I honestly thought this was a liver tumor and promptly sent the family to the tertiary care center 10 hours away. Unfortunately, the infant died on arrival and a diagnosis was not made. A year later, I followed the sibling closely but the ultimate outcome was still tragic. This time, however, an autopsy obtained on my insistence provided an unusual answer, classical galactosemia. So here I was, fresh out of medical school, trying to figure out how to provide genetic counseling for a biochemical condition in a rural society with consanguineous unions and no public health newborn screening program. My distant memory of the galactose pathway was not really relevant here. In front of me were grieving parents desperate to know if they could ever have healthy children. I honestly was not well prepared for this. I remember naively translating the galactosemia paragraph from Nelson’s Textbook of Pediatrics and hoping for the best! In continuing my education, I trained in pediatrics at the largest academic Children’s Hospital in Ankara, Turkey. I loved children and the field of general pediatrics but I was always drawn to undiagnosed patients. Not knowing the diagnosis, etiology or pathophysiology bothered me. I honestly became a clinical geneticist to further my diagnostic skills as a pediatrician. I chose to train in the United States just as the field of genetics was evolving in the early 1990s from an obscure specialty engaged in the physical description of rare syndromes to a unique specialty crucial to understanding cell development, biochemistry and physiology. I wanted to participate in the genetic discovery of conditions instead of reading the results from afar. I wanted to generate knowledge instead of copying it. The leap across continents was not always easy. As a foreign medical graduate, it took time to prove my skills as a physician and diagnostician. I had to repeat a senior year in pediatrics at UNC in order to obtain board certification in clinical genetics. When faced with limited job opportunities as a clinical geneticist locally, I chose the unique primary care research fellowship program at UNC so I could remain in an academic setting and continue my intellectual journey. Through this program, I attended the UNC School of Public Health for a PhD in Epidemiology. The academic skills gained through graduate study enabled me to develop evidence based questions, critically evaluate the medical literature, understand data and conduct clinical research. I developed an understanding of healthcare services and delivery, financial realities and healthcare policies. I indeed became a better academician and teacher through this program. As part of an academic family, I could not leave the Triangle area. For many years, I worked part-time in the UNC Pediatric Emergency room while continuing work on my PhD in epidemiology. My thesis was on the impact of folic acid supplementation and genetic polymorphisms of methylenetetrahydrofolate reductase and risk of preterm delivery. However, in 2000, I jumped at the opportunity to return to genetics, even if was only part-time initially. It was a now or never decision. Although I walked away with an MPH in epidemiology instead of a doctoral degree, the trade-off of returning to clinical genetics was well worth it. Thus, I became the clinician for the patients with inborn errors of metabolism diagnosed through the North Carolina expanded newborn screening program. I continue this exciting role to this day. Through this superb public health endeavor, we are now able to diagnose and treat patients early and in many instances prevent death and disability for a panel of over 500 patients. Also, with my colleague, Dr. Joe Muenzer, I participated in the clinical trials for the development of enzyme replacement therapies for mucopolysaccharidoses and contributed as part of a team effort, to the FDA approval of these unique drugs.

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I became a full-time genetic faculty in 2004 and have watched with excitement the expansion of clinical genetics and metabolic services at NC Children’s Hospital. As more patients with rare metabolic disorders were diagnosed early and survived longer, I observed an increase in morbidity with frequent inpatients hospitalizations. In order to standardize care, improve patient outcomes, minimize complications and optimize quality of life for this unique cohort, I saw the need to develop individualized care plan protocols. Also I had to expand educational programs both for pediatric residents and UNC nursing teams. Through these collaborative efforts with multiple specialties including intensive care units and pediatric surgery, quality of patient care is exceptional and medical errors are minimal at UNC. Meanwhile educational activities that initially started to just improve care at the bedside have taken a life into their own with regularly scheduled lectures across UNC SOM departments, UNC System affiliated hospitals to regional universities, specialty societies and finally national activities. The study of inborn errors of metabolism is rapidly evolving with now over 500 unique disorders described. Medical Biochemical Genetics was recently approved by the American Board of Medical Genetics as a specialty, and I was certified in 2009. Unfortunately there is still a national shortage of genetic and metabolic providers. This led to my developing a new program application and obtaining ACGME approval for subspecialty fellowship in Medical Biochemical Genetics at UNC. As the need arose through patient demands, I have also developed an expertise in mitochondrial disorders. In July 2011, I started a new regional clinic for such children and adults. I have also participated in fundraising efforts for these conditions. I also continue to contribute to local clinical genetics services by having a weekly outreach clinic at Rex Healthcare for the evaluation of children with birth defects, autism and chromosome abnormalities. The twenty years I have spent in the field of clinical genetics keep me humble about what is known and what yet remains to be discovered. I have witnessed the initiation and completion of the Human Genome Project. I have seen the decrease in birth defects by the use of folic acid. I am witnessing the ability of whole genome and exome sequencing to identify rare disorders. Behind it all, I never forget that there are real families struggling daily to find answers to their sick children. I see my role as the “Mystery Diagnosis” physician who can help them along in this journey. Practicing as a physician in different geographical locations (rural and urban Turkey, Oklahoma and Chapel Hill) has facilitated my understanding of cultural beliefs behind health and disease. I can counsel in a sensitive manner. Often dealing with terminal illness, I can empathize and comfort them through difficult times and assist with palliative care.

I am also honored daily to have the opportunity to interact with medical students, residents, fellows and academic colleagues. My teaching philosophy has evolved from a never-ending enthusiasm and limitless curiosity. I see myself as a physician first, pediatrician second and everything else after. From each encounter, I have tried to develop unique teaching points, opportunities for quality care, collaboration across divisions and even publications. I attempt to teach our residents the old-fashioned diagnostic process starting with symptoms, proceeding with examinations and leading to a discussion of differential diagnoses and potential evaluations. I try to not forget that medicine is first and foremost about deductive reasoning and not about unlimited laboratory studies. Then I proceed to show them how to gather the best evidence about specific conditions from the medical literature and lead them on to effective management guidelines for high quality clinical care. My training in epidemiology has enabled me to evaluate the medical research quickly and efficiently as well as to develop an understanding of quality of care and public health. Through this approach, I hope to formulate an evidence-based approach to pediatrics and genetics/metabolism in the care of complex patients and to teach residents how to seek the best information anytime, anywhere and apply it on a daily basis to the care of their patients. I hope that they will be able to use these concepts even in non-academic settings. I also attempt to be an example of compassion and caring at the bedside particularly while presenting bad news and predicting poor

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outcomes. I believe residents learn by watching us and strive to be a role model in such difficult times. I also believe that mentoring is part of our academic lives and I hope to guide fellows and residents in choosing the best career options while not forgetting to balance their professional and private lives.

Although I demand excellence in all aspects of patient care, I also know I know the limitations in our scientific knowledge and will honestly tell them if there are no answers. I will make the effort to seek an answer in collaboration with basic scientists when feasible. I see the relief in their faces if there is an answer even after many years. This is exemplified by several publications from our division and the recent discovery of the genetic etiology of a novel neurometabolic disease, 2-4 dienoyl-Co-A reductase deficiency through international collaboration. I was proud to be instrumental in finding an answer in the one and only case in the world with this and answering a 25 year old puzzle. Since there is a nationwide shortage of genetic/metabolic providers, I attempt to empower our residents and primary care colleagues in the management of these patients, either through lectures or phone consultations. I strive to model the ultimate clinical/educator. I take pride when these former residents reach across time zones or state boundaries and still ask my advice about patients. I understand the difficulties each one of us face in achieving our roles of clinician/advocates/ researchers/educators and serving the population in this state. I believe that systematic approaches in minimizing the diagnostic odysseys faced by complex patients can actually contain rampant healthcare costs. I believe in the value of personalized/evidenced based care plans for such individuals can actually improve care and decrease unnecessary testing and procedures and minimize readmissions. I believe that the availability of unique multidisciplinary clinics will be where academic centers will distinguish themselves in the future. Patients now use social media and the internet to seek the best care. Such clinics will serve to expand the research missions of academic centers. My future academic goals include exploring the value of whole genome and exome sequencing in the diagnosis of complex pediatric patients as part of a team effort at UNC. I would like to develop a rare disorder center of excellence at our institution modeled along the NIH Rare Disorders clinic. I also plan to continue to develop the mitochondrial clinic into a medical home for such children. I hope to expand my educational activities to national levels. I will continue to translate the ever expanding science of genetics to practicing physicians. I feel privileged on a daily basis to positively contribute to the lives of children and families with complex disorders in North Carolina. Looking back, I see that my career has taken many twists and turns through two continents, two states and even three divisions at the University of North Carolina, Department of Pediatrics. I value each experience and opportunity that has made me who I am today. I see a common theme emerge through these years. It is still my desire to find answers to complex patients, provide the best care for them and teach others how this is done. And, by the way, the original family from Turkey that started this process, they now have three healthy kids!