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Meral Gunay-Aygun, M.D.

Photo of Dr. Meral Gunay-Aygun, M.D.
  • Director of the Metabolic Genetics Clinic, Johns Hopkins University
Female

Languages: English, Turkish

Expertise

Alstrom Syndrome, Ciliopathies, Clinical Genetics, Congenital Hepatic Fibrosis, Genetics and Inherited Diseases , Inherited Metabolic Diseases, Joubert Syndrome, Medical Genetics, Polycystic Kidney Disease ...read more

Research Interests

Abnormal Newborn Screens; Inherited Metabolic Disorders; Inborn Errors of Metabolism; Newborn Screening; Ciliopathies

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Insurance Information

Maryland

410-955-3071
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Outside of Maryland

410-464-6641
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International Patients

+1-410-502-7683
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Locations

Johns Hopkins Pediatrics

Appointment Phone: 410-955-3071
200 N. Wolfe Street Rubenstein Child Health Building Baltimore, MD 21287 map
Phone: 410-955-0317 | Fax: 410-614-9246

Background

Meral Gunay-Aygun, MD is an Associate Professor of Pediatrics and Genetic Medicine. She is board certified in Pediatrics, Clinical Genetics and Genomic, and Clinical Laboratory Biochemical Genetics. Dr. Gunay-Aygun is the Director of the Metabolic Genetics Clinic at Johns Hopkins University. She specializes in the diagnosis and treatment of children and adults with inherited metabolic diseases. Dr. Gunay-Aygun earned her M.D. from Hacettepe University School of Medicine, Ankara Turkey. She completed Pediatrics and Medical Genetics Residencies at Case Western Reserve University, Cleveland, OH and a Biochemical Genetics Fellowship at the National Institutes of Health’s National Human Genome Research Institute, Bethesda, MD where she continues her research as a principal investigator. She has made numerous research contributions especially in the study of inherited ciliopathies for which she has earned international recognition.

She received the Innovative Leadership Award from Genetic Alliance, as well as the NHGRI Merit Award for her research on Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis.

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.

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Titles

  • Director of the Metabolic Genetics Clinic, Johns Hopkins University
  • Associate Professor of Pediatrics

Departments / Divisions

Centers & Institutes

Education

Degrees

  • MD, Hacettepe University Faculty of Medicine (1987)

Residencies

  • Marmara University Faculty of Medicine / Pediatrics (1989)
  • Haceteppe Children's Hospital / Pediatrics (1994)
  • University Hospitals Cleveland Medical Center / Genetics (1997)
  • University Hospitals Cleveland Medical Center / Pediatrics (1999)

Fellowships

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

Board Certifications

  • American Board of Medical Genetics and Genomics / Clinical Genetics / MD (1999)

Research & Publications

Research Summary

Inherited metabolic diseases, inborn errors of metabolism, newborn screening, ciliopathies, platelet organelle biogenesis defects

Lab

Ciliopathies, platelet organelle biogenesis defects

Clinical Trial Keywords

Inherited Metabolic Diseases, Newborn Screening, Ciliopathies, Polycystic Kidney Disease, Congenital Hepatic Fibrosis, Joubert Syndrome, Alstrom Syndrome, Gray Platelet Syndrome

Clinical Trials

Ciliopathies

Selected Publications

View all on Pubmed

Fleming L, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, NISC Comparative Sequencing Program, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Prospective Evaluation of Kidney Disease in Joubert Syndrome. Clin J Am Soc Nephrol. 2017;12(12):1962-1973.

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genetic in Medicine. 2017;19(8):875-882

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;144(1):112-121

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 E, Jurk Kerstin, Cruz Pedro, Mullikin Jim C, White James G, Huizing Marjan, Gahl William A. NBEAL2 is mutated in Gray Platelet Syndrome and required for biogenesis of platelet alpha-granules. Nature Genetics. 2011;43(8):732-734

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. Clin J Am Soc Nephrol. 2010;5:972-984

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

Courses and Syllabi

  • Inborn errors of metabolism course (MEDI 507)
    Lecture
    2011 - 2016
  • Introduction to Medical Genetics (GENE 500M)
    Inherited Kidney Disorders
    2012 - 2016

Activities & Honors

Honors

  • NHGRI Merit Award For Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis, National Human Genome Research Institute, 2007
  • Innovative Leadership Award for ARPKD/CHF Research, Genetic Alliance, 2011
  • NIH Intramural Sequencing Center (NISC)-Funded Flagship Project, NIH, 2013
  • The David Valle Clinical Teaching Appreciation Award for Genetic Faculty, The Johns Hopkins McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD

Memberships

  • 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

Professional Activities

  • Member, Professional Advisory Board, Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis (ARPKD/CHF) Alliance
  • Member, Scientific Advisory Board, Alström Syndrome International
  • Member, Scientific Advisory Board, Joubert Syndrome and Related Disorders Foundation International Network
  • Member, International Organizing Committee, 2022 SSIEM (Society for the Study of Inborn Errors of Metabolism) Meeting

Videos & Media

Lectures and Presentations

  • Kidney disease in multisystem ciliopathies: from nephronophthisis to polycystic kidneys
    Nephrology Grand Rounds, Visiting professor, Newcastle, United Kingdom (11/09/2018)
  • Genetic diseases of the Kidneys and Urinary track
    Invited Speaker, International Summit, International Summit on Human Genetics and Genomics (09/25/2018)
    NIH
  • Human Ciliopathies; from polycystic kidney disease to Joubert and Alstrom Syndromes
    Genetics Grand Rounds, Visiting Professor, Athens, Greece (09/03/2018)
    University of Athens
  • Diseases of the primary cilium: a wide spectrum from polycystic kidney disease to obesity
    Genetics Grand Rounds, Visiting Professor, Toronto, Canada (06/14/2018)
    , SickKids Hospital for Sick Children
  • Kidney Disease in Ciliopathies; wide spectrum from nephronophthisis to multicystic dysplastic kidneys
    Nephrology Grand Rounds, Visiting Professor, Tel-Aviv, Israel (12/06/2017)
    Tel-Aviv University Institute of Pediatric Research
  • Autosomal Recessive Polycystic Kidney Disease
    Panelist, Consensus Development Meeting, Washington (01/07/2013)
  • 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
  • Alstrom syndrome: NIH study findings
    Research Clinic, and Scientific Symposium, 7th International Family Conference, Plymouth (01/09/2013)
  • 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)
  • Clinical Characteristics of Autosomal Recessive Polycystic Kidney Disease and other Ciliopathies
    Renal Grand Rounds, Baltimore (01/04/2012)
    Johns Hopkins University Medical School
  • 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
  • Ciliary Diseases: Converging Observations and Diverging Models
    NIH Clinical Center Grand Rounds, Bethesda (01/27/2010)
  • Cystic Diseases and Cilia: A New Frontier
    Invited Lecture, National Institutes of Health “Demystifying Medicine” Lecture Series, Bethesda (01/22/2008)
  • Autosomal Recessive Polycystic Kidney Disease; Lessons from the NHGRI Natural History Study
    Invited Lecture, Pediatric Academic Societies Meeting, Baltimore (01/05/2009)
  • 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)
  • Congenital Hepatic Fibrosis: A common feature in various ciliopathies
    Invited Lecture, American Society of Human Genetics Annual Meeting, Philadelphia (01/11/2008)
  • 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)
  • 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)
  • 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)
  • 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)
  • NIH Study: Clinical and Molecular Investigations into Human Ciliopathies
    FASEB Meeting, Biology of Cilia and Flagella, Niagara Falls (01/23/2013)
  • Overview of Clinical Features of Disorders of the Primary Cilia
    25th Annual NIH Research Festival, Bethesda (01/24/2011)
  • Hepatorenal disease in Joubert syndrome and related disorders
    Joubert Syndrome and Related Disorders Foundation Conference, Minneapolis (01/10/2013)
  • 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
  • Bardet-Biedel Syndrome
    Cleveland (01/01/1996)
    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
  • Abdominal wall defects: gastroschisis and omphalocele
    High risk neonatology Grand Rounds, Cleveland (01/01/1998)
    University Hospitals of Cleveland/Case Western Reserve University

Patient Ratings & Comments

The Patient Rating score is an average of all responses to physician related questions on the national CG-CAHPS Medical Practice patient experience survey through Press Ganey. Responses are measured on a scale of 1 to 5, with 5 being the best score. Comments are also gathered from our CG-CAHPS Medical Practice Survey through Press Ganey and displayed in their entirety. Patients are de-identified for confidentiality and patient privacy.

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