Ada Hamosh (born 1960) is an American pediatrician and geneticist. She is the Frank V. Sutland Professor of Genetics in the Departments of Genetic Medicine and Pediatrics at the
Johns Hopkins University
The Johns Hopkins University (often abbreviated as Johns Hopkins, Hopkins, or JHU) is a private university, private research university in Baltimore, Maryland, United States. Founded in 1876 based on the European research institution model, J ...
. She is a
physician-scientist known for resources she created for researchers and clinicians globally.
Early life and education
Hamosh was born in
Jerusalem
Jerusalem is a city in the Southern Levant, on a plateau in the Judaean Mountains between the Mediterranean Sea, Mediterranean and the Dead Sea. It is one of the List of oldest continuously inhabited cities, oldest cities in the world, and ...
in 1960 to a biochemist mother and pulmonologist father. She grew up in
Bethesda, Maryland
Bethesda () is an unincorporated, census-designated place in southern Montgomery County, Maryland, United States. Located just northwest of Washington, D.C., it is a major business and government center of the Washington metropolitan region ...
with a mailbox that said 'Paul Hamosh, MD, Margit Hamosh, PhD, and Ada Hamosh, KID.'
After college at
Wesleyan and medical school at
Georgetown, she chose
Johns Hopkins
Johns Hopkins (May 19, 1795 – December 24, 1873) was an American merchant, investor, and philanthropist. Born on a plantation, he left his home to start a career at the age of 17, and settled in Baltimore, Maryland, where he remained for mos ...
for pediatrics residency, Hamosh completed the Residency in
Pediatrics
Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, Adolescence, adolescents, and young adults. In the United Kingdom, pediatrics covers many o ...
at
Hopkins along with her Genetics fellowship.
Career
Hamosh assumed the position of scientific director of
Online Mendelian Inheritance in Man (
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM ...
®).
She served as co-chair of the phenotype review committee of the
Baylor-
Hopkins Centers for Mendelian Genomics (CMG),
a
National Human Genome Research Institute
The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland.
NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...
-funded project to identify disease genes. She helped developed PhenoDB,
a web-based phenotype and genotype platform that is freely available for clinical and research use,
and associated tools including GeneMatcher
and Matchmaker Exchange.
Her tools have contributed to medical education
and connected clinicians with basic scientists and
model organism
A model organism is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workings of other organisms. Mo ...
experts, enabling them to study
variants of uncertain significance. Those collaborations have led to gene discovery and have facilitated understanding of rare diseases and phenotypes.
Hamosh published dozens of papers on genetic disorders. She served on the
Human Variome Project, the ClinGen Project, the International Rare Disease Research Consortium, the Gene Curation Coalition, and the Global Alliance for Genomic Health.
She became President of the
Human Genome Organization
The Human Genome Organisation (HUGO) is a non-profit organization founded in 1988. HUGO represents an international coordinating scientific body in response to initiatives such as the Human Genome Project. HUGO has four active committees, includ ...
(HUGO) in 2023.
Awards
*American Society for Human Genetics (ASHG) Education Award, 2024.
*National Organization for Rare Disorders (NORD) Rare Impact Award, 2023.
*
David L. Rimoin Lifetime Achievement Award in Medical Genetics from the
ACMG Foundation for Genetic and Genomic Medicine, 2021.
Personal life
Hamosh's sisters both became physicians. Her husband, Dr. Hal Dietz, is also a pediatrician and physician-scientist.
References
{{DEFAULTSORT:Hamosh, Ada
Physician-scientists
Women physicians
1960 births
Living people
American women scientists