• Source: Ada Hamosh

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. She is a physician-scientist known for resources she created for researchers and clinicians globally.




Early life and education


Hamosh was born in Jerusalem in 1960 to a biochemist mother and pulmonologist father. She grew up in Bethesda, Maryland with a mailbox that said 'Paul Hamosh, MD, Margit Hamosh, PhD, and Ada Hamosh, KID.' In high school, Hamosh participated in the summer program at the Jackson Laboratory in Bar Harbor, Maine. At the medical genetics clinic, she was introduced to patients with inherited conditions, and to her mentor, Victor McCusick. After college at Wesleyan and medical school at Georgetown, she chose Johns Hopkins for pediatrics residency, partly to continue working with McCusick. McCusick introduced her to the Amish, the Little People of America organization, and the National Marfan Foundation. Hamosh completed the Osler Residency in Internal Medicine at Hopkins along with her Genetics fellowship.




Career


Hamosh assumed the position of scientific director of Online Mendelian Inheritance in Man (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-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 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 (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

Kata Kunci Pencarian:

• OMIM
• Ada Hamosh
• Allele
• Human Genome Organisation
• Online Mendelian Inheritance in Man
• Polysomy
• Jared Roach
• Stephen W. Scherer
• The Monarch Initiative
• Satellite chromosome
• GeneMatcher