Meral Gunay-Aygun, MD

Primary Academic Title

Professor of Genetic Medicine

Background

Centers and Institutes

McKusick-Nathans Institute of Genetic Medicine

Clinical Trial Keywords

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

Clinical Trials Summary

Ciliopathies

Additional Academic Titles

Professor of Pediatrics

Research Interests

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

Research Summary

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

PubMed

https://www.ncbi.nlm.nih.gov/myncbi/1te9sc7lPV8k-/bibliography/public/

Pure

https://pure.johnshopkins.edu/en/persons/meral-gunay-aygun

Selected Publications

• 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 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, 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

• 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

Courses & Syllabi

• Inborn errors of metabolism course, Foundation for advanced education in the sciences (FAES) graduate school at NIH, MEDI 507, 1/1/11 - 4/22/16
• Introduction to Medical Genetics, Foundation for advanced education in the sciences (FAES) graduate school at NIH., GENE 500M, 4/1/12 - 4/19/16

Honors

• The David Valle Clinical Teaching Appreciation Award for Genetic Faculty, The Johns Hopkins McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD
• NIH Intramural Sequencing Center (NISC)-Funded Flagship Project, NIH, 1/1/13
• Innovative Leadership Award for ARPKD/CHF Research, Genetic Alliance, 9/22/11
• NHGRI Merit Award For Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis, National Human Genome Research Institute, 1/1/07

Lectures & Presentations

• Abdominal wall defects: gastroschisis and omphalocele, High risk neonatology Grand Rounds, University Hospitals of Cleveland/Case Western Reserve University, Cleveland, 1/1/98
• Alstrom syndrome: NIH study findings, Research Clinic, and Scientific Symposium, 7th International Family Conference, Plymouth, 1/9/13
• Approach to the child with fatty acid oxidation defect, Pediatric Grand Rounds, Children's Hospital Medical Center of Akron, Akron, 1/1/01
• Autosomal Recessive Polycystic Kidney Disease, Panelist, Consensus Development Meeting, Washington, 1/7/13
• Autosomal Recessive Polycystic Kidney Disease; Lessons from the NHGRI Natural History Study, Invited Lecture, Pediatric Academic Societies Meeting, Baltimore, 1/5/09
• Bardet-Biedel Syndrome, University Hospitals of Cleveland/Case Western Reserve University, Cleveland, 1/1/96
• Characteristics of Kidney and Liver Disease in 40 Joubert syndrome patients, Invited Lecture, Joubert Syndrome and Related Cerebellar Disorders Foundation Biennual Meeting, Orlando, 1/15/11
• Ciliary Diseases: Converging Observations and Diverging Models, NIH Clinical Center Grand Rounds, Bethesda, 1/27/10
• Clinical Characteristics of Autosomal Recessive Polycystic Kidney Disease and other Ciliopathies, Renal Grand Rounds, Johns Hopkins University Medical School, Baltimore, 1/4/12
• Clinical Characteristics of Human Ciliopathies, Invited Lecture, Johns-Hopkins University-McKusick-Nathans Institute of Genetic Medicine Seminar Series, Baltimore, 1/10/10
• 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, 1/5/05
• Congenital Hepatic Fibrosis: A common feature in various ciliopathies, Invited Lecture, American Society of Human Genetics Annual Meeting, Philadelphia, 1/11/08
• Cystic Diseases and Cilia: A New Frontier, Invited Lecture, National Institutes of Health "Demystifying Medicine" Lecture Series, Bethesda, 1/22/08
• Diseases of the primary cilium: a wide spectrum from polycystic kidney disease to obesity, Genetics Grand Rounds, Visiting Professor, , SickKids Hospital for Sick Children, Toronto, Canada, 6/14/18
• 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), 1/8/08
• Fragile-X Syndrome, Genetics Grand Rounds, University Hospitals of Cleveland/Case Western Reserve University, Cleveland, 1/1/99
• Genetic diseases of the Kidneys and Urinary track, Invited Speaker, International Summit, International Summit on Human Genetics and Genomics, NIH, 9/25/18
• Gray Platelet Syndrome: Clinical features and Genetic Analysis, Congenital Thrombocytopenia, XXIII Congress of the International Society on Thrombosis and Homeostasis, Kyoto, 1/23/11
• Hepatorenal disease in Joubert syndrome and related disorders, Joubert Syndrome and Related Disorders Foundation Conference, Minneapolis, 1/10/13
• Human Ciliopathies; from polycystic kidney disease to Joubert and Alstrom Syndromes, Genetics Grand Rounds, Visiting Professor, University of Athens, Athens, Greece, 9/3/18
• Kidney and Liver Disease in Joubert Syndrome and related disorders, Invited Lecture, Joubert Syndrome and Related Cerebellar Disorders Foundation Biennual Meeting, Cincinnati, 1/15/09
• Kidney Disease in Ciliopathies; wide spectrum from nephronophthisis to multicystic dysplastic kidneys, Nephrology Grand Rounds, Visiting Professor, Tel-Aviv University Institute of Pediatric Research, Tel-Aviv, Israel, 12/6/17
• Kidney disease in multisystem ciliopathies: from nephronophthisis to polycystic kidneys, Nephrology Grand Rounds, Visiting professor, Newcastle, United Kingdom, 11/9/18
• 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, 1/27/08
• Natural history of Joubert Syndrome, 2nd Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care, American Society of Human Genetics Annual Meeting, Boston, 1/21/13
• 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, 1/16/12
• Newborn screening for metabolic disorders in Ohio: interpretation, confirmatory testing and interim management, Pediatric Grand Rounds, Children's Hospital Medical Center of Akron, Akron, 1/1/01
• NIH ARPKD/CHF Natural History Study, Invited Lecture, Polycystic Kidney Foundation Meeting, 1/23/05
• NIH Study: Clinical and Molecular Investigations into Human Ciliopathies, FASEB Meeting, Biology of Cilia and Flagella, Niagara Falls, 1/23/13
• Overview of Clinical Features of Disorders of the Primary Cilia, 25th Annual NIH Research Festival, Bethesda, 1/24/11
• 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, 1/2/06
• Spectrum of Clinical Diseases Caused by Ciliopathies, Invited Lecture, Primary Ciliary Dyskinesia and Overlapping Syndromes Conference, St. Louis, 1/30/10
• 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, International Society of Nephrology, Vancouver, 1/10/11

Graduate Program Affiliations

• 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

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, Laboratory Consultants Subcommittee
• Society for Inherited Metabolic Diseases
• Society for Pediatric Research

Professional Activities

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