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Photo of Dr. Meral Gunay-Aygun

Meral Gunay-Aygun, M.D.

Pediatrician, Metabolic Geneticist
Associate Professor of Pediatrics

Female  | Languages: English, Turkish

Appointment Phone


Main Location

Johns Hopkins Pediatric Specialty Clinic

Out-of-State & International Patients +
Out of State Patients

Call 410-464-6641 (8a.m. to 6p.m., EST, Mon-Fri)

Learn more about our out-of-state patient services »

International Patients

Call +1-410-502-7683 (7a.m. to 6p.m., EST, Mon-Fri)

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  • Pediatrician, Metabolic Geneticist
  • Associate Professor of Pediatrics

Centers & Institutes



Johns Hopkins Pediatric Specialty Clinic

Appointment Phone: 410-955-3071

200 N. Wolfe Street
David Rubenstein Child Health Building
Baltimore, MD 21287 map
Phone: 410-955-0317
Fax: 410-614-9246


Genetics and Inherited Diseases , Medical Genetics, Pediatric Metabolic Disorders

Research Interests

Inborn errors of metabolism; Pediatric genetic disorders


Dr. Meral Gunay-Aygun is an associate professor of pediatrics and genetics at the McKusick-Nathans Institute of Genetic Medicine. She holds a medical degree from Hacettepe University School of Medicine in Ankara, Turkey.

Dr. Gunay-Aygun completed residencies in pediatrics at Marmara University Hospital, Hacettepe University Children’s Hospital and Cape Western Reserve University. She completed an additional residency in medical genetics at Cape Western Reserve University and a fellowship in biochemical genetics at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health before joining the Johns Hopkins faculty in 2011.

She is a member of myriad professional organizations, including the American Society of Human Genetics, the American Academy of Pediatrics, the Society of Pediatric Research and the Society for Inherited Metabolic Disorders.

Her work has been recognized through the Innovative Leadership Award from the National Geographic Society, as well as an NHGRI merit award for her management of successful clinical protocol related to kidney disease and congenital hepatic fibrosis. more

    Additional Information

  • Education +


    • Hacettepe University Faculty of Medicine / MD (1987)


    • Marmara University Faculty of Medicine / Pediatrics (1989)
    • Haceteppe Children's Hospital / Pediatrics (1994)
    • Case Western Reserve University / Genetics (1997)
    • St. Vincent Charity Medical Center / Pediatrics (1999)


    • Cleveland Clinic (1999)
    • National Institutes of Health / Genetics (2004)


    • American Board of Medical Genetics / Clinical Genetics / MD (1999, 2010)
    • American Board of Pediatrics / Pediatrics (1998, 2016)
  • Research & Publications +

    Selected Publications View all on PubMed

    1. Gunay-Aygun, Meral and William A Gahl. Autosomal-Recessive Polycystic Kidney Disease Gets More Complex (Reply). Gastroenterology. 2013 May;144(5):1156-7.
    2. Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani K, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler N, Roque A, Douek D, Graf J, Huizing M, Bryant J, Mohan P, Gahl W, Heller T. Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients with Autosomal Recessive Polycystic Kidney Disease. Gastroenterology. 2013 Jan;144(1):112-121
    3. Jill A. Fahrner, Anne M. Murphy, and Meral Gunay-Aygun. Hypertrophic Cardiomyopathy: How far should we go with genetic testing? Am J Med Genet A. 2012 Jun;158A(6):1414-21. doi: 10.1002/ajmg.a.35363. Epub 2012 May 14
    4. Jill A. Fahrner, Aisha Frazier, Suha Bachir, Michael F. Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M. Murphy, and Meral Gunay-Aygun. A Rasopathy Phenotype with Severe Congenital Hypertrophic Obstructive Cardiomyopathy associated with a PTPN11 Mutation and a Novel Variant in SOS1. American J of Medical Genetics, 2012;158A(6):1414-21.
    5. O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, and Gunay-Aygun M. Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease. J Pediatr Gastroenterol Nutr. 2012 Jan; 54(1):83-9.
    6. Topaloglu R, T Vilboux, T. Coskun, F. Ozaltin, B. Tinloy, M. Gunay-Aygun , A. Bakkaloglu, N. Besbas, B. van den Heuvel, R. Kleta, W.A. Gahl. Genetic basis of cystinosis in Turkish patients: a single center experience. Pediatr Nephrol. 2012 Jan;27(1):115-21.
    7. Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet. 2012 Feb; 49(2):126-37.
    8. Ali H. Charafeddine, Eugenia J. Kim, Dawn M. Maynard, Hong Yi, Timothy A. Weaver, Meral Gunay-Aygun, Maria Russell, William A. Gahl, and Allan D. Kirk. Platelet-derived CD154: ultrastructural localization and clinical correlation in organ transplantation. Am J Transplant. 2012 Nov;12(11):3143-51.
    9. Gunay-Aygun M, Turkbey BI, Bryant J, Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA. Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Mol Genet Metab. 2011 Dec;104(4):677-81.
    10. Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard D, Carlson-Donohoe, H, Ciccone, C, NISC Comparative Sequencing Program, Markello, T, Gunay-Aygun M, HuizingM, and Gahl AW. Homozygosity Mapping and Whole Exome Sequencing to Diagnose SLC45A2 and G6PC3 Mutations Mimicking HPS-2. J Invest Dermatol. 2011 Oct;131(10):2017-25.
    11. White JG and Gunay-Aygun M. The York Platelet Syndrome: A third case. Platelets 2011; 22:117-34.
    12. Gunay- Aygun M, Falik-Zaccai T, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel C, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel Beate E10, Jurk Kerstin10, Cruz Pedro11, Mullikin Jim C11, White James G12, Huizing Marjan1,Gahl William A1,2 NBEAL2 is mutated in Gray Platelet Syndrome and required for biogenesis of platelet alpha-granules. Nat Genet. 2011 Jul 17;43(8):732-4.
    13. Ware S, Gunay-Aygun M, Hildebrant F. Other ciliopathies with some clinical features of Primary Ciliary Dyskinesia. (Primary Ciliary Dyskinesia and Overlapping Syndromes). Proc Am Thorac Soc. 2011 Sep;8(5):444-50.
    14. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Bugos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF,Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, and Falik-Zaccai TC. Gray Platelet Syndrome: Natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010:116:4990-5001
    15. Chetty-John S, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Heller T, Gahl WA and Gunay-Aygun M. Fibrocystic Disease of the Liver and Pancreas; Underrecognized features of the X-linked Ciliopathy Oral-Facial-Digital Syndrome Type 1 (OFD I). American J of Medical Genetics 2010;152:2640-5.
    16. Maynard DM, Heijnen HF, Gahl WA, Gunay-Aygun M. The alpha granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. Journal of Thrombosis and Homeostasis 2010; 8:1786-96.
    17. Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani K, Turkbey B, Choyke P, Guay-Woodford L, Gahl WA. Correlation of Kidney Function, Volume, and Imaging Findings and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease. Clinical Journal of the American Society of Nephrology 2010; 5:972-84.
    18. Doherty D,Parisi M,Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Özyurek H, Phelps I, Rosentha P, Verloe A, Weigand H, Chance PF, Dobyns WB, and Glass IA. Mutations in 3 genes (MKS3, RPGRIP1L, and CC2D2A) cause COACH syndrome/Joubert syndrome with congenital hepatic fibrosis. Journal of Medical Genetics 2010; 47:8-21
    19. Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausawarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. PKHD1 Sequence variations in 78 Children and Adults with Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis. Molecular Genetics and Metabolism 2010; 99:160-73.
    20. Gunay-Aygun M. Liver and Kidney Disease in Disorders of the Primary Non-Motile Cilia. American Journal of Medical Genetics, Seminars in Medical Genetics 2009; 151 :296-306.
    21. Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Lukose L, Bryant JC, Golas G, Dorward H, Ciccone C, Daryanani KT, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. MKS3-related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis and Joubert Syndrome. Journal of Pediatrics 2009; 155:386-92.
    22. Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, Gahl WA, Choyke PL, Gunay-Aygun M. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatric Radiology 2009; 39:100-11.
    23. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annual Reviews in Genomics Human Genetics 2008; 9: 359-86.
    24. Gunay-Aygun M, Avner ED, Bacallao RL, Choyke P, Flynn J, Germino GG, Guay-Woodford L, Harris PC, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres V, Wilson P, Zak C, Zhou J, Gahl WA. Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis: Summary Statement of a First National Institutes of Health/Office of Rare Diseases Conference. Journal of Pediatrics 2006:149:159-64.
    25. Gunay-Aygun M. Inborn Errors Digest: 3-Methylglutaconic Aciduria: A Common Biochemical Marker in Various Syndromes with Diverse Clinical Features. Molecular Genetics and Metabolism 2005; 84:1-3.
    26. Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA. Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak-Higashi syndrome. Molecular Genetics and Metabolism 2005; 85:125-32.
    27. Gunay-Aygun M, Huizing M, Gahl WA. Molecular Defects That Affect Platelet Dense Granules. Seminars in Thrombosis and Hemoastasis 2004; 30: 537-547.
    28. Gunay-Aygun M, Schwartz S, Heeger S, O'Riordian MA, and Cassidy SB. The changing purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria. Pediatrics 2001; 108: 1200-1201.
    29. Kilic I, Kilic BA, Gunay-Aygun M, and Aksit MA. Camptodactyly, Myopia, and Fibrosis of the Medial Rectus of the eye in two sibs born to Consanguineous Parents: Autosomal Recessive Entity? American Journal of Medical Genetics 1998; 77:28-30.
    30. Gunay-Aygun M, Cassidy SB, and Nicholls RD. Prader-Willi and other syndromes associated with obesity and mental retardation. Behavior Genetics 1997; 27:307-324.
    31. Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. American Journal of Medical Genetics 1997; 71:106-110.
    32. Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, and Morrison S. Clinical and locus heterogeneity in brachydactyly type C. American Journal of Medical Genetics 1997; 68:369-377.
    33. Gunay M, and Aysun S. Neuronal migration disorders presenting with mild clinical symptoms. Pediatric Neurology 1996; 14:153-154.
    34. Gogus S, Topcu M, Kucukali T, Akcoren Z, Berkel I, Ersoy F, Gunay M, and Saatci I. Griscelli Syndrome: Report of three cases. Pediatric Pathology and Laboratory Medicine 1995; 15:309-319.
    35. Özsoylu S, Cemeroglu AP, Gunay M. Vitamin A for Varicella. Journal of Pediatrics 1994; 125:1017-8.
    36. Aysun S, Topçu M, Gunay M, Topaloglu H. Neurologic features as initial presentations of childhood malignancies. Pediatric Neurology 1994; 10:40-43.
    37. Gürgey A, Sayli T, Gunay M, Ersoy F, Küçükali T, Kale G, Çaglar M. High-dose methylprednisolone and VP-16 in the treatment of Griscelli syndrome with central nervous system involvement. American Journal of Hematology 1994; 47:331-2.
    38. Ozon A, Topaloglu H, Cila A, Gunay M, and Çetin M. Acute ascending myelitis and encephalopathy after intrathecal cytosine arabinoside and methotrexate in an adolescent boy with acute lymphoblastic leukemia. Brain and Development 1994; 16:246-8.
    39. Çetin M, Yetgin S, Kara A, Tuncer M, Gunay M, Gümrük F, Gürgey A. Hyperglycemia, ketoacidosis and other complications of L- Asparaginase in children with acute lymphoblastic leukemia. Journal of Medicine 1994; 25:219-29.
    40. Balci S, Önol B, Erçal MD, Gunay M, Besim A, Eryilmaz M. Autosomal recessive holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week. Clinical Dysmorphology 1993; 2:165-8.
    41. Tokatli A, Coskun T, Ozalp I, Gunay M. The major presenting symptom in a biotinidase deficient patient: Laryngeal stridor. Journal of Inherited Metabolic Disease 1992; 15: 281-2.
  • Academic Affiliations & Courses +

    Graduate Program Affiliation

    • Medical Genetics Residency and Clinical Biochemical Genetics Fellowship Programs, Johns Hopkins University School of Medicine
    • Medical Genetics Fellowship Program, NHGRI, NIH
    • Medical Biochemical Genetics Residency Program, NHGRI, NIH
    • Inborn errors of metabolism course (MEDI 507), Foundation for advanced education in the sciences (FAES) graduate school at NIH
  • Activities & Honors +


    • Most productive pediatric resident award, Hacettepe University Children’s Hospital, 1994
    • Best senior pediatric resident research project award, case Western Reserve University, 1998
    • NHGRI merit award, 2007
    • Innovative Leadership Award for ARPKD/CHF Research, Genetic Alliance 25th Anniversary Celebration, 2011
    • Intramural Sequencing Center (NISC)-Funded Flagship Project, NIH, 2013


    • American Academy of Pediatrics
    • American Collage of Medical Genetics
    • American Society of Human Genetics
    • Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis Alliance
      Professional Advisory Board
    • NHGRI, NIH
      Scientific Review Board
    • Ohio Department of Health Newborn Screening Laboratory Advisory Committee, 2001 - 2003
      Laboratory Consultants Subcommittee
    • Society for Inherited Metabolic Diseases
    • Society for Pediatric Research
  • Videos & Media +

    Lectures and Presentations

    Recent advances in diagnosing genetic disorders
    Neonatology/High risk obstetrics conference , Aultman (01/01/2001)
    Aultman Hospital

    Clinical Findings of NIH Natural History Protocol on ARPKD/CHF
    Invited Lecture , First NIH/Office of Rare Diseases Conference on Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis (ARPKD/CHF) , Bethesda (01/05/2005)

    NIH ARPKD/CHF Natural History Study
    Invited Lecture , Polycystic Kidney Foundation Meeting (01/23/2005)

    Report on the NIH ARPKD/CHF Natural History Study
    Invited Lecture , Symposium on ARPKD/CHF Society for Pediatric Research /Pediatric Academic Societies Meeting , San Francisco (01/02/2006)

    Cystic Diseases and Cilia: A New Frontier
    Invited Lecture , National Institutes of Health “Demystifying Medicine” Lecture Series , Bethesda (01/22/2008)

    Natural History of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis (ARPKD/CHF)
    Invited Lecture , Polycystic Kidney Disease: Basic Translational and Clinical Science , 2008 FASEB Summer Research Conferences , Snowmass Village (01/27/2008)

    Fibrocystic diseases of the kidneys and liver in disorders of the primary cilia/centrosome
    Invited Lecture , 29th Annual David W Smith Workshop on Malformations and Morphogenesis , Mont-Tremblant (Quebec) (01/08/2008)

    Congenital Hepatic Fibrosis: A common feature in various ciliopathies
    Invited Lecture , American Society of Human Genetics Annual Meeting , Philadelphia (01/11/2008)

    Autosomal Recessive Polycystic Kidney Disease; Lessons from the NHGRI Natural History Study
    Invited Lecture , Pediatric Academic Societies Meeting , Baltimore (01/05/2009)

    Kidney and Liver Disease in Joubert Syndrome and related disorders
    Invited Lecture , Joubert Syndrome and Related Cerebellar Disorders Foundation Biennual Meeting , Cincinnati (01/15/2009)

    Clinical Characteristics of Human Ciliopathies
    Invited Lecture , Johns-Hopkins University-McKusick-Nathans Institute of Genetic Medicine Seminar Series , Baltimore (01/10/2010)

    Spectrum of Clinical Diseases Caused by Ciliopathies
    Invited Lecture ,  Primary Ciliary Dyskinesia and Overlapping Syndromes Conference , St. Louis (01/30/2010)

    Characteristics of Kidney and Liver Disease in 40 Joubert syndrome patients
    Invited Lecture , Joubert Syndrome and Related Cerebellar Disorders Foundation Biennual Meeting , Orlando (01/15/2011)

    Subtleties and Surprises: The Clinical Manifestations of Autosomal Recessive Polycystic Kidney Disease
    Session: Renal Cystic Diseases: New Insights into Clinical Disease Expression , World Congress of Nephrology 2011 , Vancouver (01/10/2011)
    International Society of Nephrology

    Gray Platelet Syndrome: Clinical features and Genetic Analysis
    Congenital Thrombocytopenia , Kyoto (01/23/2011)
    XXIII Congress of the International Society on Thrombosis and Homeostasis

    Overview of Clinical Features of Disorders of the Primary Cilia
    25th Annual NIH Research Festival , Bethesda (01/24/2011)

    Natural History Studies of Rare Diseases: Meeting the Needs of Drug Development and Research
    Panelist , Prospective Cross-sectional studies session , National Institutes of Health Workshop , Bethesda (01/16/2012)

    Autosomal Recessive Polycystic Kidney Disease
    Panelist , Consensus Development Meeting , Washington (01/07/2013)

    Alstrom syndrome: NIH study findings
    Research Clinic, and Scientific Symposium , 7th International Family Conference , Plymouth (01/09/2013)

    NIH Study: Clinical and Molecular Investigations into Human Ciliopathies
    FASEB Meeting, Biology of Cilia and Flagella , Niagara Falls (01/23/2013)

    Hepatorenal disease in Joubert syndrome and related disorders
    Joubert Syndrome and Related Disorders Foundation Conference , Minneapolis (01/10/2013)

    Natural history of Joubert Syndrome
    2nd Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care , Boston (01/21/2013)
    American Society of Human Genetics Annual Meeting

    Newborn screening for metabolic disorders in Ohio: interpretation, confirmatory testing and interim management
    Pediatric Grand Rounds , Akron (01/01/2001)
    Children’s Hospital Medical Center of Akron

    Approach to the child with fatty acid oxidation defect
    Pediatric Grand Rounds , Akron (01/01/2001)
    Children’s Hospital Medical Center of Akron

    Clinical Characteristics of Autosomal Recessive Polycystic Kidney Disease and other Ciliopathies
    Renal Grand Rounds , Baltimore (01/04/2012)
    Johns Hopkins University Medical School

    Bardet-Biedel Syndrome
    Cleveland (01/01/1996)
    University Hospitals of Cleveland/Case Western Reserve University

    Abdominal wall defects: gastroschisis and omphalocele
    High risk neonatology Grand Rounds , Cleveland (01/01/1998)
    University Hospitals of Cleveland/Case Western Reserve University

    Fragile-X Syndrome
    Genetics Grand Rounds , Cleveland (01/01/1999)
    University Hospitals of Cleveland/Case Western Reserve University

    Ciliary Diseases: Converging Observations and Diverging Models
    NIH Clinical Center Grand Rounds , Bethesda (01/27/2010)

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