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

Photo of Dr. Ada Hamosh, M.D., M.P.H.

Dr. Frank V. Sutland Professor of Pediatric Genetics

Professor of Pediatrics

Female

Expertise: Cystic Fibrosis, Genetics, Genetics and Inherited Diseases , Medical Genetics, Medical Genetics-Inherited Disorders

Research Interests: Integration of genetics into general clinical practice; Education of geneticists; Genotype-phenotype correlations and modifier genes in cystic fibrosis; Nonketotic hyperglycinemia; Clinical implications of human genome project ...read more

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Locations

The Johns Hopkins Hospital
Appointment Phone: 410-955-3071

600 N. Wolfe Street
Sheikh Zayed Tower
Baltimore, MD 21287 map
Phone: 410-955-3071

Background

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.

...read more

Titles

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

Departments / Divisions

Education

Degrees

  • MD, Georgetown University School of Medicine (1985)

Residencies

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

Fellowships

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

Board Certifications

  • American Board of Medical Genetics and Genomics / Clinical Biochemical Genetics (1993, 2010)
  • American Board of Medical Genetics and Genomics / Clinical Genetics / MD (1993, 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. 

Videos & Media

Lectures and Presentations

  • News in Genetics. Pediatrics for the Practitioner.
    Lecture , Baltimore, Maryland (09/23/1999)
    Johns Hopkins University School of Medicine
  • Using OMIM.  Short Course in Medical and Experimental Mammalian Genetics
    Lecture (07/01/2000)
  • Using OMIM.  Short Course in Medical and Experimental Mammalian Genetics
    Lecture (07/01/2001)
  • Newborn Screening—New Horizons.  Pediatric Trends
    Presentation (04/19/2002)
    Johns Hopkins Hospital
  • An Overview of the Nutritional Management of Metabolic Disease.  Advances in Pediatric Nutrition.
    Lecture , Baltimore, MD (06/25/2002)
  • Using OMIM.  Short Course in Medical and Experimental Mammalian Genetics
    Lecture (07/01/2002)
  • Genetic Testing for the Practitioner.
    Lecture , Maryland Association of Physicians Assistants Annual Meeting , Linthicum, Maryland (11/11/2002)
  • Hypoglycemia.  Pediatric Endocrinology for the Primary Care Clinician.
    Lecture , Baltimore, Maryland (06/13/2003)
    Johns Hopkins Hospital
  • sing OMIM.  Short Course in Medical and Experimental Mammalian Genetics
    Lecture (07/01/2003)
  • Online Genetic Resources.
    Training , Training Core of the Johns Hopkins Reynolds Center (03/01/2004)
  • Using OMIM.  Short Course in Medical and Experimental Mammalian Genetics
    Lecture (07/01/2004)
  • Genetic Testing for the Practitioner.
    CME lecture , Hagerstown, Maryland (11/11/2004)
    Washington County Hospital
  • Using OMIM.  Short Course in Medical and Experimental Mammalian Genetics
    Lecture (07/01/2005)
  • Recognizing Complexities, Offering Testing, and Making Appropriate Referrals for Ashkenazi Jewish Genetic Diseases.
    Lecture , Provider’s Symposium on Jewish Genetic Diseases. , Baltimore, Maryland (11/30/2005)
    Sinai Hospital
  • Using OMIM. The Short Course in Medical and Mammalian Genetics
    Bar Harbor (01/15/2006)
  • Update on Newborn Screening. Pediatrics for the Practitioner. Johns Hopkins Hospital
      Baltimore (01/28/2006)
  • Biochemical Genetics
    Nashville (01/22/2007)
  • Using OMIM. The Short Course in Medical and Mammalian Genetics
    Bar Harbor (01/16/2007)
  • Lysosomal Storage Diseases: Treatment for some, not all
    Bienniel , Baltimore (01/01/2007)
    Johns Hopkins
  • Recognition and Treatment of Fabry Disease
    Dermatology Grand Rounds , Baltimore (01/03/2007)
    Johns Hopkins Hospital
  • Understanding the New Cytogenetics: We’re not diploid anymore
    Pediatrics Grand Rounds , Baltimore (01/17/2008)
    Johns Hopkins
  • OMIM.
    The Second Annual CASIMIR symposium on Human and Mouse Disease Informatics , Stockholm (01/01/2008)
    The Nobel Forum
  • Using OMIM. The Short Course in Medical and Mammalian Genetics
    Bar Harbor (01/16/2008)
  • Understanding the New Cytogenetics: We’re not diploid anymore.
    Pediatrics Grand Rounds , Baltimore (01/13/2009)
  • Using OMIM. The Short Course in Medical and Mammalian Genetics
    Bar Harbor (01/16/2009)
    Sinai Hospital
  • Genetics in Your Practice.
    The Maimon Cohen Colloquium , Baltimore (01/17/2009)
    Greater Baltimore Medical Center
  • The approach to the child with developmental delays.  Pediatric Trends.
    Lecture (04/22/2009)
    Johns Hopkins Medical School
  • Using OMIM. The Short Course in Medical and Mammalian Genetics
    OB-Gyn Grand Rounds , Bar Harbor (01/16/2010)
  • Copy Number Variation in the Prenatal Setting.
    Baltimore (01/02/2010)
    Sinai Hospital
  • 22q11 Deletion, DiGeorge Syndrome or VCF, common by any name: What every pediatrician needs to know.
    Pediatrics Grand Rounds , Baltimore (01/01/2011)
    Children’s Hospital at Sinai
  • Using OMIM. The Short Course in Medical and Mammalian Genetics
    Bar Harbor (01/01/2011)
  • We are not Diploid anymore: The role of CGH in prenatal diagnosis and the assessment of congenital abnormalities.
    Ob-Gyn Grand Rounds , Baltimore (01/22/2011)
    St. Joseph’s Hospital
  • OMIM: past present and future.
    Charlotte (01/01/2012)
  • Using OMIM. The Short Course in Medical and Mammalian Genetics
    Bar Harbor (01/01/2012)
  • PhenoDB: a new web-based tool for collecting, storing and analyzing phenotypic information.
    The 2012 Forum of the Human Variome Project , San Francisco (01/06/2012)
  • The Need for Standardized Phenotyping.
    The First International Rare Disease Research Consortium , Dublin (01/01/2013)
  • Update on OMIM and the Baylor-Hopkins Center for Mendelian Genomics and PhenoDB.
    KKI Interdisciplinary Clinical Genetics Conference , Baltimore (01/01/2013)
  • The need for comprehensive, standardized phenotyping in the era of genome-wide sequencing.
    International Consortium for Clinical Genetics Meeting , Bethesda (01/01/2013)
  • Developing Standards to Represent Human Phenotypes.
    American Society of Human Genetics , Boston (01/24/2013)
  • PhenoDB and the need for comprehensive, standardized phenotyping in the era of genome-wide sequencing.
    Geuvadis Annual Meeting , The Hague (01/17/2013)
  • A genetic approach to the evaluation of children with intellectual disability.
    Mercy Hospital Pediatric Grand Rounds , Baltimore (01/17/2014)
  • PhenoDB and GeneMatcher
    The Global Alliance for Genomics and Health Clinical Working Group (01/19/2014)
  • Chromosome Microarray Incidental Finding.
    American College of Medical Genetics Meeting (01/28/2014)
  • Update on OMIM and phenotyping standards.
    Human Genome Meeting , Geneva (01/30/2014)
  • PhenoDB and GeneMatcher, new tools to analyze and solve exomes/genomes.
    Human Variome Project Bienniel Meeting , Paris (01/22/2014)
  • GeneMatcher.
    International Consortium for Clinical Genetics Meeting , Bethesda (01/12/2014)
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