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Ada Hamosh, MD

Professor of Epidemiology
Professor of Pediatrics

See Research on Pubmed | See Research on Google Scholar

Female
Appointment Phone

410-955-3071

Main Location

The Johns Hopkins Hospital

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Out-of-State & International Patients +
Out of State Patients

Call 410-464-6641 (8a.m. to 6p.m., EST, Mon-Fri)

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International Patients

Call +1-410-502-7683 (7a.m. to 6p.m., EST, Mon-Fri)

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Titles

  • Professor of Epidemiology
  • Dr. Frank V. Sutland Professor of Pediatric Genetics
  • Professor of Pediatrics

Centers & Institutes

  • McKusick-Nathans Institute of Genetic Medicine

Expertise

Genetics, Genetics and Inherited Diseases, Medical Genetics, Medical Genetics-Inherited Disorders

Biography

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics at the McKusick-Nathans Institute of Genetic Medicine, and a professor in the Department of Epidemiology at Johns Hopkins Bloomberg School of Public Health.

Since 2002, she has served as clinical director of the IGM and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 12,000 human genes and genetic disorders created by Dr. Victor A. McKusick.
Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism.

Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health.

She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 2000.

Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute.

Dr. Hamosh has authored more than 70 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Society for Pediatric Research, the Maryland State Advisory Council on Hereditary & Congenital Disorders and a fellowship at the American College of Medical Genetics.

She serves on the editorial board of 16 different peer-review journals, including the American Journal of Medical Genetics and the Archives of Pediatrics and Adolescent Medicine.

Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors of 2013.

Languages

  • English

Memberships

Institutional Administrative Appointments:

  • Member, Clinical and Education Committees of the IGM
  • Member, Institute of Genetic Medicine, Small Group (Executive Committee)
  • Member, Pediatric Specialty Clinic Committee
  • Chair, Clinical Committee of the IGM
  •  Member, Division Chiefs, Department of Internal Medicine
  • Member, Division Chiefs, Department of Pediatrics
  •  

Professional Societies:

  • American Society of Human Genetics
  • Society for Inherited Metabolic Diseases
  • Society for Pediatric Research
  • Fellow, American College of Medical Genetics

Additional Resources

Additional Resources +
  • Education +

    Training

    • Johns Hopkins Bloomberg School of Public Health (Baltimore MD ) (1989)
    • Georgetown University School of Medicine (Washington DC ) (1985)

    Residencies

    • Johns Hopkins University School of Medicine / Pediatrics (Baltimore MD ) (1988)

    Fellowships

    • Johns Hopkins University School of Medicine / Biochemical Genetics (Baltimore MD ) (1992)

    Certifications

    • Pediatrics, American Board of Pediatrics (2013)
    • Clinical Biochemical Genetics, American Board of Medical Genetics (2010)
    • Clinical Genetics (MD), American Board of Medical Genetics (2010)
  • Research & Publications +

    Research Summary

     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.

    Selected Publications View all on PubMed

     

  • Academic Affiliations & Courses +

    Graduate Program Affiliation

    • Small Group Leader: Physicians and Society Course, 2nd year, 1998, 1999.
    • Human Genetics Journal Club Faculty Advisor, 1998-2002.
    • Using OMIM, Short Course in Medical and Experimental Mammalian Genetics, Bar Harbor, Maine, July 2001, 2002, 2003, 2004, 2005, 2006, 2007, 2008, 2009, 2010, 2011, 2012, 2013.
    • Ethical, Legal and Social Implications of Genetics, Case Studies. Short Course in Medical and Experimental Mammalian Genetics, Bar Harbor, Maine, July 2001, 2002, 2003, 2004, 2005, 2006, 2007, 2008, 2009, 2010, 2011, 2012, 2013.
    • Clinical Correlation:  PKU, September 1997, 1998,1999, 2000, 2001, 2002, 2003, 2004, 2005, 2006, 2007, 2008, 2009, 2010, 2011, 2012, 2013.
    • Lecture to Pediatric Rotation Students: Metabolic Disease of the Newborn, 1991-Present
    • Lectures to Pediatric Housestaff: Metabolic Disease of the Newborn, Dysmorphic Syndromes Not Associated with Chromosomal Abnormalities, Clinical Genetic Resources on the Web, Newborn Screening, 1992-Present
    • Organizing Genetics Education for Medicine and Emergency Medicine Housestaff, 2004-2006.
    • Clinical Skills in Genetics for 2nd year students, 1994-2003.
    • Director, Medical Genetics Clinic, Short Course in Medical and Experimental Mammalian Genetics, Bar Harbor, Maine, July 2001-2014.
    • Director, Clinical Genetics Case Conference, weekly, 2003-present.
    • Ad hoc lectures and individual instruction to genetics residents and medical students rotating through genetics clinics and to pediatrics and medicine residents  caring for ward patients, 1992-Present. 

    Courses and Syllabi

    • News in Genetics. Pediatrics for the Practitioner.  Johns Hopkins University School of Medicine.  Baltimore, Maryland, September 23, 1999.
    • Newborn Screening—New Horizons.  Pediatric Trends.  Johns Hopkins Hospital, April 19, 2002.
    • An Overview of the Nutritional Management of Metabolic Disease.  Advances in Pediatric Nutrition.  Baltimore, MD, June 25, 2002.
    • Genetic Testing for the Practitioner.  Maryland Association of Physicians Assistants Annual Meeting.  Linthicum, Maryland, November 11, 2002.
    • Hypoglycemia.  Pediatric Endocrinology for the Primary Care Clinician.  Johns Hopkins Hospital, Baltimore, Maryland, June 13, 2003.
    • Genetic Testing for the Practitioner.  CME lecture, Washington County Hospital, Hagerstown, Maryland, November 11, 2004.
    • Online Genetic Resources.  Training Core of the Johns Hopkins Reynolds Center, Recorded in March, 2004.
    • Recognizing Complexities, Offering Testing, and Making Appropriate Referrals for  Ashkenazi Jewish Genetic Diseases.  Provider’s Symposium on Jewish Genetic Diseases.  Sinai Hospital, Baltimore, Maryland, November 30, 2005.
    • Using OMIM.  Short Course in Medical and Experimental Mammalian Genetics, Bar Harbor, Maine, July 2000, 2001, 2002, 2003, 2004, 2005, 2006, 2007, 2008.
    • The approach to the child with developmental delays.  Pediatric Trends.  Johns Hopkins Medical School.  April 22, 2009.
    • The Maimon Cohen Colloquium at Greater Baltimore Medical Center.  September 17, 2009.
  • Activities & Honors +

    Honors

    Johns Hopkins Leadership Development Program (2005)

    Dr. Frank V. Sutland Professorship in Pediatric Genetics (2007)

  • Videos & Media +

    Lectures and Presentations

    • Using OMIM. The Short Course in Medical and Mammalian Genetics. Bar Harbor, Maine, July 15, 2006
    • Update on Newborn Screening. Pediatrics for the Practitioner. Johns Hopkins Hospital. September 28, 2006.
    • Biochemical Genetics, Who is Taking Care of the Adults? Session on Transitioning Genetic Care from the Pediatric to the Adult Setting at the American College of Medical Genetics Annual Meeting, Nashville, Tennesse, March 22, 2007.
    • Using OMIM. The Short Course in Medical and Mammalian Genetics. Bar Harbor, Maine, July 16, 2007
    • Lysosomal Storage Diseases: Treatment for some, not all. Johns Hopkins Bienniel. Baltimore, June 1, 2007.
    • Recognition and Treatment of Fabry Disease, Dermatology Grand Rounds, Johns Hopkins Hospital, Baltimore, October 3, 2007.
    • Understanding the New Cytogenetics: We’re not diploid anymore. Pediatrics Grand Rounds, Johns Hopkins, Baltimore, September 17, 2008.
    • OMIM. The Second Annual CASIMIR symposium on Human and Mouse Disease Informatics, The Nobel Forum, Stockholm, December 1-3, 2008.
    • Using OMIM. The Short Course in Medical and Mammalian Genetics. Bar Harbor, Maine, July 16, 2008
    • Understanding the New Cytogenetics: We’re not diploid anymore. Pediatrics Grand Rounds, Sinai Hospital, Baltimore, January 13, 2009.
    • Using OMIM. The Short Course in Medical and Mammalian Genetics. Bar Harbor, Maine, July 16, 2009
    • Genetics in Your Practice. The Maimon Cohen Colloquium at Greater Baltimore Medical Center. September 17, 2009.
    • Using OMIM. The Short Course in Medical and Mammalian Genetics. Bar Harbor, Maine, July 16, 2010.
    • Copy Number Variation in the Prenatal Setting. OB-Gyn Grand Rounds, Sinai Hospital, Baltimore, MD, December 2, 2010.
    • 22q11 Deletion, DiGeorge Syndrome or VCF, common by any name: What every pediatrician needs to know. Pediatrics Grand Rounds, Children’s Hospital at Sinai, Baltimore, MD, March 1, 2011.
    • Using OMIM. The Short Course in Medical and Mammalian Genetics. Bar Harbor, Maine, July, 2011.
    • We are not Diploid anymore: The role of CGH in prenatal diagnosis and the assessment of congenital abnormalities. Ob-Gyn Grand Rounds, St. Joseph’s Hospital, Baltimore, MD September 22, 2011.
    • OMIM: past, present and future. Meeting of the American College of Medical Genetics, Charlotte, NC, March 2012.
    • Using OMIM. The Short Course in Medical and Mammalian Genetics. Bar Harbor, Maine, July, 2012.
    • PhenoDB: a new web-based tool for collecting, storing and analyzing phenotypic information. The 2012 Forum of the Human Variome Project, San Francisco, November 6, 2012.
    • The Need for Standardized Phenotyping. The First International Rare Disease Research Consortium, Dublin, Ireland, April 2013.
    • Update on OMIM and the Baylor-Hopkins Center for Mendelian Genomics and PhenoDB. KKI Interdisciplinary Clinical Genetics Conference, Baltimore, MD May 1, 2013.
    • The need for comprehensive, standardized phenotyping in the era of genome-wide sequencing. International Consortium for Clinical Genetics Meeting, Bethesda, June 2013.
    • Developing Standards to Represent Human Phenotypes. American Society of Human Genetics, Boston, MA October 24, 2013.
    • PhenoDB and the need for comprehensive, standardized phenotyping in the era of genome-wide sequencing. Geuvadis Annual Meeting, The Hague, The Netherlands, November 17, 2013.
    • A genetic approach to the evaluation of children with intellectual disability. Mercy Hospital Pediatric Grand Rounds, Baltimore, MD, January 17, 2014.
    • PhenoDB and GeneMatcher. Presentation to The Global Alliance for Genomics and Health Clinical Working Group. Webcast. February 19, 2014.
    • Chromosome Microarray Incidental Finding. American College of Medical Genetics Meeting, March 28, 2014.
    • Update on OMIM and phenotyping standards. Human Genome Meeting, Geneva, Switzerland, April 30, 2014.
    • PhenoDB and GeneMatcher, new tools to analyze and solve exomes/genomes. Human Variome Project Bienniel Meeting, Paris, May 22, 2014.
    • GeneMatcher. International Consortium for Clinical Genetics Meeting, Bethesda, June 12, 2014.
  • Events +
  • Contact & Locations +

    Locations

    The Johns Hopkins Hospital
    600 N. Wolfe Street
    Sheikh Zayed Tower
    Baltimore, MD 21287
    Phone: 410-955-3071
    Appointment Phone: 410-955-3071
    Location Map

    Department/Division

    • Pediatrics - Genetics

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