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Meral Gunay-Aygun, M.D.

Director, Metabolic Genetics Clinic, Johns Hopkins University
Professor of Genetic Medicine

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 ...read more

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Maryland Phone

410-955-3071

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 is a professor of pediatrics and genetic medicine and director of the Metabolic Genetics Clinic at The Johns Hopkins Hospital. She is board certified in pediatrics, clinical genetics and clinical biochemical genetics. Dr. Gunay-Aygun specializes in the diagnosis and treatment of children and adults with inherited metabolic diseases. She oversees the clinical operations of the metabolic service including diagnostic evaluation and follow-up of newborns with abnormal newborn screens for inherited metabolic diseases. Dr. Gunay-Aygun earned her medical degree from Hacettepe University School of Medicine, Ankara, Turkey. She completed pediatrics and medical genetics residencies at Case Western Reserve University, Cleveland, Ohio, and a biochemical genetics fellowship at the National Institutes of Health’s National Human Genome Research Institute, Bethesda, Maryland, 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.

Dr. Gunay-Aygun 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.

Titles

Director, Metabolic Genetics Clinic, Johns Hopkins University
Professor of Genetic Medicine
Professor of Pediatrics

Departments / Divisions

Genetic Medicine
Pediatrics - Genetics

Centers & Institutes

Education

Degrees

MD; Hacettepe University Faculty of Medicine (1987)

Residencies

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

Fellowships

Cleveland Clinic (1999)
Genetics; National Institutes of Health (2004)

Research & Publications

Research Summary

Inherited metabolic diseases, inborn errors of metabolism, newborn screening, 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)
Foundation for advanced education in the sciences (FAES) graduate school at NIH
2011 - 2016
Introduction to Medical Genetics (GENE 500M)
Foundation for advanced education in the sciences (FAES) graduate school at NIH.
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

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)
Kidney disease in multisystem ciliopathies: from nephronophthisis to polycystic kidneys
Nephrology Grand Rounds, Visiting professor, Newcastle, United Kingdom (11/09/2018)
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
Genetic diseases of the Kidneys and Urinary track
Invited Speaker, International Summit, International Summit on Human Genetics and Genomics (09/25/2018)
NIH

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