Meral Gunay-Aygun, MD

Associate Professor Department of Pediatrics, Institute of Genetic Medicine
Contact    |   Education   |   Interests   |   Activities   |   Leadership    |  Publications

Education and Training:

• M.D., Hacettepe University School of Medicine, Ankara, Turkey, 1987
• Pediatrics Residency, Hacettepe University Children’s Hospital, Turkey, 1994
• Pediatrics Residency and Genetics Fellowship, Case Western Reserve University, Rainbow Babies and Children’s Hospital, Cleveland, OH, 1999
• Biochemical Genetics Fellowship, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 2004

Main Interests:

• Inborn errors of metabolism
• Pediatric genetic disorders

Research Interests:       

• Ciliopathies (polycystic kidney diseases, congenital hepatic fibrosis, Caroli’s disease,  disorders associated with fibrocystic pathology of the kidneys and liver including Bardet Biedl,  Meckel-Gruber, Oral-Facial-Digital, and Joubert and other cerebello-oculo-renal syndromes).
• Gray platelet syndrome and other platelet organelle formation disorders

Clinical Activities:

• Board Certifications:
  - American Board of Pediatrics, 1998, 2006
  - American Board of Medical Genetics, Clinical Genetics, 1999
  - American Board of Medical Genetics, Clinical Biochemical Genetics, 2005
  
  
• Clinical Interests:
  - Diagnosis of management of inborn errors of metabolism
  - Follow up of abnormal newborn screening for inborn errors of mertabolism
  - General pediatric genetic diseases
  
  
• Clinic:
  - Johns Hopkins Harriet-Lane Outpatient Clinic 410-955-3071
  - Attending, pediatric metabolism and genetics consultation service 

Educational Activities:

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

 Recognition and Leadership Roles:

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

Publications:

White, JG and Gunay-Aygun, M. The York Platelet Syndrome: A third case.  Platelets. In Press. 2010.

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,   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 Aug 13. [Epub ahead of print]

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 (10):2640-5

Maynard DM, Heijnen HF, Gahl WA, Gunay-Aygun M. The alpha granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. Thrombosis and Homeostasis 2010; 8:1786-96.

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.

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. 

Gunay-Aygun M. Liver and Kidney Disease in Disorders of the Primary Non-Motile Cilia. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2009 151 (4):296-306.

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.

Gunay-Aygun, M, Parisi, MA, Doherty, D, Tuchman, M, Tsilou, E, Kleiner, D, 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.

Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, TuchmanM, Mohan P, Heller T, Gahl WA, Choyke PL, Gunay-Aygun M.  Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol 2009;39:100-11.

Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008;9:359-86.

Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, 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. J Pediatr 2006;149:159-64.

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. Mol Genet Metab 2005;85:125-32.

Gunay-Aygun M. 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. Mol Genet Metab 2005;84:1-3.

Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost 2004;30:537-47.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001;108:E92.

Kilic I, Kilic BA, Ergin H, Aygun MG, Aksit MA. Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: autosomal recessive entity? Am J Med Genet 1998;77:28-30.

Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S. Clinical and locus heterogeneity in brachydactyly type C. Am J Med Genet 1997;68:369-77.

Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Am J Med Genet 1997;71:106-10.

Gunay-Aygun M, Cassidy SB, Nicholls RD. Prader-Willi and other syndromes associated with obesity and mental retardation. Behav Genet 1997;27:307-24.

Gunay M, Aysun S. Neuronal migration disorders presenting with mild clinical symptoms. Pediatr Neurol 1996;14:153-4.

Gogus S, Topcu M, Kucukali T, Akcoren Z, Berkel I, Ersoy, Gunay M, Saatci I. Griscelli syndrome: report of three cases. Pediatr Pathol Lab Med 1995;15:309-19.

Ozsoylu S, Cemeroglu AP, Gunay M. Vitamin A for varicella. J Pediatr 1994;125:1017-8.

Ozon A, Topaloglu H, Cila A, Gunay M, Cetin M. Acute ascending myelitis and encephalopathy after intrathecal cytosine arabinoside and methotrexate in an adolescent boy with acute lymphoblastic leukemia. Brain Dev 1994;16:246-8.

Gurgey a, Sayli T, Gunay M, Ersoy F, Kucukali T, Kale G, Caglar M. High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement. Am J Hematol 1994;47:331-2.

Cetin M, Yetqin S, Kara A, Tuncer AM, Gunay M, Gunruk F, Gurgey A. Hyperglycemia, ketoacidosis and other complications of L-asparaginase in children with acute lymphoblastic leukemia. J Med 1994;25:219-29.

Aysun S, Topcu M, Gunay M, Topaloglu H. Neurologic features as initial presentations of childhood malignancies. Pediatr Neurol 1994;10:40-3.

Balci S, Onol B, Ercal MD, Gunay M, Besim A, Eryilmaz M. Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week. Clin Dysmorphol 1993;2:165-8.

Tokatli A, Coskun T, Ozalp I, Gunay M. The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor. J Inherit Metab Dis 1992;15:281-2.

Book Chapters:

Tuchman, M, Gahl, WA,  Gunay-Aygun, M. Genetics of fibrocystic diseases of the liver and molecular approaches to therapy. In “Fibrocystic Diseases of the Liver”. Editor Karen F. Murray. Humana Press. 2009.

Gunay-Aygun M, Gahl, W.A. Heller, T. Congenital hepatic fibrosis overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online) Copyright, University of Washington, Seattle  2008.

Gunay-Aygun, M., Anikster Y., Gahl W. (2006). 3-Methylglutaconic Aciduria Type III. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online) Copyright, University of Washington, Seattle  2006.

Dennis S. W., Robinson H., and Gunay-Aygun M. Disorders of Musculoskeletal Growth and Development. Chapter 19 in Musculoskeletal Medicine, (publication of American Academy of Orthopaedic surgeons). (2003).

Derbent M., Balci S., Özkan S., Dagli S., Gunay M., Ertürk M. (1994). Intelligence and hearing in Down Syndrome. Dysmorphology and Genetics of Cardiovascular Disorders. CS. Bartsocas and P. Beighton. Athens  

Contact Information:

Meral Gunay-Aygun, MD

Johns Hopkins University School of Medicine
Institute of Genetic Medicine
600 North Wolfe Street
Blalock Building Room 1008
Baltimore, MD 21287-3914

Phone: (410) 955 3071
Fax: 410-614-9246
E-Mail: mgunaya1@jhu.edu

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