Ada Hamosh Explained

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.[1] 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.[2]

Career

Hamosh assumed the position of scientific director of Online Mendelian Inheritance in Man (OMIM®).[3] [4] [5] She served as co-chair of the phenotype review committee of the Baylor-Hopkins Centers for Mendelian Genomics (CMG),[6] a National Human Genome Research Institute-funded project to identify disease genes. She helped developed PhenoDB,[7] a web-based phenotype and genotype platform that is freely available for clinical and research use,[8] and associated tools including GeneMatcher[9] and Matchmaker Exchange.[10]

Her tools have contributed to medical education[11] [12] 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.[13]

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.[14]

Awards

Personal life

Hamosh's sisters both became physicians. Her husband, Dr. Hal Dietz, is also a pediatrician and physician-scientist.

Notes and References

  1. Rasmussen . Sonja A. . Pomputius . Ariel . Amberger . Joanna S. . Hamosh . Ada . 2021 . Viewing Victor McKusick' s legacy through the lens of his bibliography . American Journal of Medical Genetics Part A . 185 . 11 . 3212–3223 . 10.1002/ajmg.a.62394 . 1552-4825 . 8530872 . 34159717 . free.
  2. Rasmussen . Sonja A. . Hamosh . Ada . Memories of Victor A. McKusick . American Journal of Medical Genetics Part A . 185 . 11 . 2021 . 1552-4825 . 10.1002/ajmg.a.62431 . 3377–3383.
  3. Hamosh . Ada . Amberger . Joanna S. . Bocchini . Carol . Scott . Alan F. . Rasmussen . Sonja A. . 2021 . Online Mendelian Inheritance in Man (OMIM ®): Victor McKusick 's magnum opus . American Journal of Medical Genetics Part A . 185 . 11 . 3259–3265 . 10.1002/ajmg.a.62407 . 1552-4825 . 8596664 . 34169650 . free.
  4. Amberger . Joanna S. . Bocchini . Carol A. . Scott . Alan F. . Hamosh . Ada . 2019-01-08 . OMIM.org: leveraging knowledge across phenotype-gene relationships . Nucleic Acids Research . 47 . D1 . D1038–D1043 . 10.1093/nar/gky1151 . 1362-4962 . 6323937 . 30445645 . free.
  5. Amberger . Joanna S. . Hamosh . Ada . 2017-06-27 . Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes . Current Protocols in Bioinformatics . 58 . 1.2.1–1.2.12 . 10.1002/cpbi.27 . 1934-340X . 5662200 . 28654725 . free.
  6. Baxter . Samantha M. . 2022 . Centers for Mendelian Genomics: A decade of facilitating gene discovery . Genetics in Medicine . 24 . 4 . 784–797 . 10.1016/j.gim.2021.12.005 . 9119004 . 35148959 . free . Zhang . Yan . Zhang . Xiaohong . Zhang . Yeting . Zhang . Shifa . Zoghbi . Huda . van den Veyver . Igna.
  7. Wohler . Elizabeth . Martin . Renan . Griffith . Sean . Hamosh . Ada . Sobreira . Nara . 2021 . PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data . Orphanet Journal of Rare Diseases . 16 . 1 . 10.1186/s13023-021-01916-z . 1750-1172 . 8371856 . 34407837 . free.
  8. Web site: Morrissey . Laurie (NIH/NCI) [C] . April 1: Dr. Ada Hamosh and Dr. Nara Sobreira, PhenoDB: A Tool for Collection and Analysis of Phenotypic and Genomic Data . NCI Wiki . 2015-03-23 . 2024-11-14.
  9. Sobreira . Nara . Schiettecatte . François . Valle . David . Hamosh . Ada . 2015 . GeneMatcher: a matching tool for connecting investigators with an interest in the same gene . Human Mutation . 36 . 10 . 928–930 . 10.1002/humu.22844 . 1098-1004 . 4833888 . 26220891 . free.
  10. Dyke . Stephanie O. M. . Knoppers . Bartha M. . Hamosh . Ada . Rehm . Heidi L. . 2017 . "Matching" consent to purpose: The example of the Matchmaker Exchange . Human Mutation . 38 . 10 . 1281–1285 . 10.1002/humu.23278 . 1098-1004 . 5669800 . 28699299 . free.
  11. Lee-Barber . Jasmine . Kulo . Violet . Lehmann . Harold . Hamosh . Ada . Bodurtha . Joann . 2019 . Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education . Genetics in Medicine: Official Journal of the American College of Medical Genetics . 21 . 2 . 493–497 . 10.1038/s41436-018-0076-7 . 1530-0366 . 29930391 . free.
  12. Diehl . Adam C. . Reader . Lauren . Hamosh . Ada . Bodurtha . Joann N. . 2015 . Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles . Genetics in Medicine . Elsevier BV . 17 . 2 . 158–163 . 10.1038/gim.2014.84 . 1098-3600 . free. 4859213 .
  13. de Macena Sobreira . Nara Lygia . Hamosh . Ada . 2021 . Next‐generation sequencing and the evolution of data sharing . American Journal of Medical Genetics Part A . 185 . 9 . 2633–2635 . 10.1002/ajmg.a.62239 . 1552-4825.
  14. Web site: International . HUGO . 2024-07-15 . HUGO President & Executive Board Members . 2024-11-14 . HUGO International.
  15. Web site: ASHG 2024: Stalwarts of Human Genetics Receive Professional Awards . GEN - Genetic Engineering and Biotechnology News . 2024-11-05 . 2024-11-14.
  16. Web site: 2023-02-27 . NORD Announces 2023 Rare Impact Award Honorees and 40th Anniversary Celebration . 2024-11-14 . National Organization for Rare Disorders.
  17. Web site: Genetics . American College of Medical . 2021-04-13 . Geneticist and Pediatrician Dr. Ada Hamosh Receives David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine . 2024-11-14 . PR Newswire.

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