Ada Hamosh, MD

Professional Titles

• Dr. Frank V. Sutland Professor of Pediatric Genetics

Primary Academic Title

Professor of Genetic Medicine

Background

Centers and Institutes

• Johns Hopkins Children's Center
• McKusick-Nathans Institute of Genetic Medicine

Additional Academic Titles

Professor of Pediatrics

Contact for Research Inquiries

600 N. Wolfe St.
Blalock 1007
Baltimore, MD 21287-4922

ahamosh@jhmi.edu

Research Interests

Education of geneticists, Genotype-phenotype correlations, Integration of genetics into general clinical practice, Mendelian Disorders, Rare disease

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.

Google Scholar

https://scholar.google.com/scholar?q=Ada+Hamosh&btnG=&hl=en&as_sdt=0%2C21

PubMed

http://www.ncbi.nlm.nih.gov/pubmed/?term=Hamosh%20A%5BAuthor%5D&cauthor=true&cauthor_uid=25428349

Selected Publications

• Boycott KM, Azzariti DR, Hamosh A, Rehm HL. Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking. Hum Mutat. 2022 Jun;43(6):659-667. doi: 10.1002/humu.24373. Epub 2022 May 10. PMID: 35537081; PMCID: PMC9133175

• Centers for Mendelian Genomics: A decade of facilitating gene discovery. Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium, Rehm HL, O'Donnell-Luria A. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9.PMID: 35148959

• OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98. doi: 10.1093/nar/gku1205. Epub 2014 Nov 26. PMID: 25428349

• Sobreira N, Schiettecatte F, Valle D, Hamosh A.GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015 Oct;36(10):928-30. doi: 10.1002/humu.22844. Epub 2015 Aug 13.PMID: 26220891

• Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. N Engl J Med. 2007 May 31;356(22):2282-92. doi: 10.1056/NEJMoa066596.PMID: 17538087

Honors

David Rimoin Lifetime Achievement Award, American College of Medical Genetics and Genomics, 3/19/21

Lectures & Presentations

• 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, 1/1/11
• A genetic approach to the evaluation of children with intellectual disability., Mercy Hospital Pediatric Grand Rounds, Baltimore, 1/17/14
• An Overview of the Nutritional Management of Metabolic Disease. Advances in Pediatric Nutrition., Lecture, Baltimore, MD, 6/25/02
• Biochemical Genetics, Nashville, 1/22/07
• Chromosome Microarray Incidental Finding., American College of Medical Genetics Meeting, 1/28/14
• Copy Number Variation in the Prenatal Setting., Sinai Hospital, Baltimore, 1/2/10
• Developing Standards to Represent Human Phenotypes., American Society of Human Genetics, Boston, 1/24/13
• GeneMatcher., International Consortium for Clinical Genetics Meeting, Bethesda, 1/12/14
• Genetic Testing for the Practitioner., Lecture, Maryland Association of Physicians Assistants Annual Meeting, Linthicum, Maryland, 11/11/02
• Genetic Testing for the Practitioner., CME lecture, Washington County Hospital, Hagerstown, Maryland, 11/11/04
• Genetics in Your Practice., The Maimon Cohen Colloquium, Greater Baltimore Medical Center, Baltimore, 1/17/09
• Hypoglycemia. Pediatric Endocrinology for the Primary Care Clinician., Lecture, Johns Hopkins Hospital, Baltimore, Maryland, 6/13/03
• Lysosomal Storage Diseases: Treatment for some, not all, Lecture, Biennial, Johns Hopkins, Baltimore, 1/1/07
• Newborn Screening-New Horizons. Pediatric Trends, Presentation, Johns Hopkins Hospital, 4/19/02
• News in Genetics. Pediatrics for the Practitioner., Lecture, Johns Hopkins University School of Medicine, Baltimore, Maryland, 9/23/99
• OMIM: past present and future., Charlotte, 1/1/12
• OMIM., The Second Annual CASIMIR symposium on Human and Mouse Disease Informatics, The Nobel Forum, Stockholm, 1/1/08
• Online Genetic Resources., Training, Training Core of the Johns Hopkins Reynolds Center, 3/1/04
• PhenoDB and GeneMatcher, The Global Alliance for Genomics and Health Clinical Working Group, 1/19/14
• PhenoDB and GeneMatcher, new tools to analyze and solve exomes/genomes., Lecture, Human Variome Project Biennial Meeting, Paris, 1/22/14
• PhenoDB and the need for comprehensive, standardized phenotyping in the era of genome-wide sequencing., Geuvadis Annual Meeting, The Hague, 1/17/13
• PhenoDB: a new web-based tool for collecting, storing and analyzing phenotypic information., The 2012 Forum of the Human Variome Project, San Francisco, 1/6/12
• Recognition and Treatment of Fabry Disease, Dermatology Grand Rounds, Johns Hopkins Hospital, Baltimore, 1/3/07
• Recognizing Complexities, Offering Testing, and Making Appropriate Referrals for Ashkenazi Jewish Genetic Diseases., Lecture, Provider's Symposium on Jewish Genetic Diseases., Sinai Hospital, Baltimore, Maryland, 11/30/05
• sing OMIM. Short Course in Medical and Experimental Mammalian Genetics, Lecture, 7/1/03
• The approach to the child with developmental delays. Pediatric Trends., Lecture, Johns Hopkins Medical School, 4/22/09
• The need for comprehensive, standardized phenotyping in the era of genome-wide sequencing., International Consortium for Clinical Genetics Meeting, Bethesda, 1/1/13
• The Need for Standardized Phenotyping., The First International Rare Disease Research Consortium, Dublin, 1/1/13
• Understanding the New Cytogenetics: We're not diploid anymore, Pediatrics Grand Rounds, Johns Hopkins, Baltimore, 1/17/08
• Understanding the New Cytogenetics: We're not diploid anymore., Pediatrics Grand Rounds, Baltimore, 1/13/09
• Update on Newborn Screening. Pediatrics for the Practitioner. Johns Hopkins Hospital, Baltimore, 1/28/06
• Update on OMIM and phenotyping standards., Human Genome Meeting, Geneva, 1/30/14
• Update on OMIM and the Baylor-Hopkins Center for Mendelian Genomics and PhenoDB., KKI Interdisciplinary Clinical Genetics Conference, Baltimore, 1/1/13
• Using OMIM. Short Course in Medical and Experimental Mammalian Genetics, Lecture, 7/1/01
• Using OMIM. Short Course in Medical and Experimental Mammalian Genetics, Lecture, 7/1/00
• Using OMIM. Short Course in Medical and Experimental Mammalian Genetics, Lecture, 7/1/02
• Using OMIM. Short Course in Medical and Experimental Mammalian Genetics, Lecture, 7/1/04
• Using OMIM. Short Course in Medical and Experimental Mammalian Genetics, Lecture, 7/1/05
• Using OMIM. The Short Course in Medical and Mammalian Genetics, Bar Harbor, 1/15/06
• Using OMIM. The Short Course in Medical and Mammalian Genetics, Bar Harbor, 1/16/07
• Using OMIM. The Short Course in Medical and Mammalian Genetics, Bar Harbor, 1/16/08
• Using OMIM. The Short Course in Medical and Mammalian Genetics, Sinai Hospital, Bar Harbor, 1/16/09
• Using OMIM. The Short Course in Medical and Mammalian Genetics, OB-Gyn Grand Rounds, Bar Harbor, 1/16/10
• Using OMIM. The Short Course in Medical and Mammalian Genetics, Bar Harbor, 1/1/11
• Using OMIM. The Short Course in Medical and Mammalian Genetics, Bar Harbor, 1/1/12
• 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, 1/22/11

Graduate Program Affiliations

• 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 2001-2022.
• Ethical, Legal and Social Implications of Genetics, Case Studies. Short Course in Medical and Experimental Mammalian Genetics, Bar Harbor, Maine, July 2001-2022.
• Clinical Correlation:  PKU, Fall 1997-2022.
• Lecture to Pediatric Rotation Students: Metabolic Disease of the Newborn, 1991-2016
• 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 2001-2019.
• 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.