Hamosh, Ada, M.D., M.P.H.

Professor, Department of Pediatrics and Institute of Genetic Medicine
Professor, Department of Epidemiology, Johns Hopkins School of Medicine, Bloomberg School of Public Health
Clinical Director, IGM
Scientific Director, OMIM
B.A., Wesleyan University, 1981
M.D. Georgetown University, 1985
MPH Johns Hopkins University, 1989

Main Interests:

The molecular basis of Mendelian disorders and the genetic basis of variability within single gene disorders has been the core of my professional interests in both the Online Mendelian Inheritance in Man (OMIM) and research.Clinically, my interests are similarly broad, although I have particular expertise in the diagnosis and management of inborn errors of metabolism. My educational interests focus on the integration of genetics into general clinical practice as well the education of geneticists.

Research Interests:

• Genotype-phenotype correlations and modifier genes in cystic fibrosis
• Nonketotic hyperglycinemia
• Clinical implications of human genome project
• Links: Online Mendelian Inheritance in Man (OMIM)

Clinical Activities:

• Board Certification: American Board of Pediatrics (1989, 1996, 2002); American Board of Medical Genetics: Clinical Genetics and Biochemical Genetics (1993, 2003, 2005)
• Clinical Interests: Biochemical genetics, metabolism, general genetics, dysmorphology
• Clinic:

  Medical Genetics Clinic
  Johns Hopkins Outpatient Clinic
  8th floor, Pediatric Specialty Clinics area
  601 North Caroline Street
  Baltimore, MD 21205

Educational Activities:

• Preceptor, Medical Genetics Training Program
• Preceptor, Clinical Skills - Genetics
• Lecturer on metabolic diseases to pediatric rotation students and housestaff
• Instructor, Annual Short Course in Medical and Experimental Mammalian Genetics, The Jackson Laboratory, Bar Harbor, Maine
• Links:

Medical Genetics (Genetic Medicine) Clinical Residency Program and Genetic Subspecialty Postdoctoral Fellowships

Predoctoral Training Program in Human Genetics

Recognition and Leadership Roles:

• Chair, State Advisory Council on Hereditary and Congenital Disorders
• Deputy Scientific Director of Phenotypes, Online Mendelian Inheritance in Man (OMIM)
• Member, Professional Advisory Board, Non-Ketotic Hyperglycemia (NKH) International Family Network
• Member, American Society of Human Genetics
• Member, Society for Inherited Metabolic Diseases

Publications:

• Hamosh A, Corey M: Correlation between genotype and phenotype in cystic fibrosis patients. For the Cystic Fibrosis Genotype-Phenotype Consortium. N Engl J Med 329:1308-1313, 1993. Abstract
  
  
• Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR: Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 132:255-259, 1998. Abstract
  
  
• Yaghmai R, Kimyai-Asadi A, Rostamiani K, Heiss NS, Poustka A, Eyaid W, Bodurtha J, Nousari HC, Hamosh A, Metzenberg A: Overlap of dyskeratosis congenita with the Hoyeraal-Hreidersson syndrome. J Pediatr 136:390-393, 2000. Abstract
  
  
• Hamosh A, Scott AF, Amberger JA, Bocchini C, Valle D, McKusick VA: Online Mendelian Inheritance in Man: a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 30:52-5, 2002. Abstract
  
  
• Arking DE, Krebsova A, Macek M Sr, Macek M Jr, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC: Association of Human Aging with a Functional Variant of Klotho. Proc Natl Acad Sci USA 99:856-861, 2002. Abstract
  

Contact Information:

Ada Hamosh, MD, MPH

Johns Hopkins University School of Medicine
Institute of Genetic Medicine
600 North Wolfe Street,
Blalock Building Room 1012D
Baltimore, MD 21287-3914

Phone: (410) 614-3313
Fax: 410-614-9246
E-Mail: ahamosh@mail.jhmi.edu