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Ada Hamosh

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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

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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.'[1] 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.[2] After college at Wesleyan and medical school at Georgetown, she chose Johns Hopkins for pediatrics residency, partly to continue working with McCusick.[3] 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.[3]

Career

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Hamosh assumed the position of scientific director of Online Mendelian Inheritance in Man (OMIM®).[4][5][6] She served as co-chair of the phenotype review committee of the Baylor-Hopkins Centers for Mendelian Genomics (CMG),[7] a National Human Genome Research Institute-funded project to identify disease genes. She helped developed PhenoDB,[8] a web-based phenotype and genotype platform that is freely available for clinical and research use,[9] and associated tools including GeneMatcher[10] and Matchmaker Exchange.[11]

Her tools have contributed to medical education[12][13] 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.[14]

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.[1] She became President of the Human Genome Organization (HUGO) in 2023.[15]

Awards

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  • American Society for Human Genetics (ASHG) Education Award, 2024.[16]
  • National Organization for Rare Disorders (NORD) Rare Impact Award, 2023.[17]
  • David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine, 2021.[1]

Personal life

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Hamosh's sisters both became physicians. Her husband, Dr. Hal Dietz, is also a pediatrician and physician-scientist.[1]

References

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  1. ^ a b c d 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". PR Newswire. Retrieved 2024-11-14.
  2. ^ 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. doi:10.1002/ajmg.a.62394. ISSN 1552-4825. PMC 8530872. PMID 34159717.
  3. ^ a b Rasmussen, Sonja A.; Hamosh, Ada (2021). "Memories of Victor A. McKusick". American Journal of Medical Genetics Part A. 185 (11): 3377–3383. doi:10.1002/ajmg.a.62431. ISSN 1552-4825.
  4. ^ 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. doi:10.1002/ajmg.a.62407. ISSN 1552-4825. PMC 8596664. PMID 34169650.
  5. ^ 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. doi:10.1093/nar/gky1151. ISSN 1362-4962. PMC 6323937. PMID 30445645.
  6. ^ 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. doi:10.1002/cpbi.27. ISSN 1934-340X. PMC 5662200. PMID 28654725.
  7. ^ Baxter, Samantha M. (2022). "Centers for Mendelian Genomics: A decade of facilitating gene discovery". Genetics in Medicine. 24 (4): 784–797. doi:10.1016/j.gim.2021.12.005. PMC 9119004. PMID 35148959.
  8. ^ Wohler, Elizabeth; Martin, Renan; Griffith, Sean (2021). "PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data". Orphanet Journal of Rare Diseases. 16 (1): 365. doi:10.1186/s13023-021-01916-z. ISSN 1750-1172. PMC 8371856. PMID 34407837.
  9. ^ Morrissey, Laurie (NIH/NCI) [C] (2015-03-23). "April 1: Dr. Ada Hamosh and Dr. Nara Sobreira, PhenoDB: A Tool for Collection and Analysis of Phenotypic and Genomic Data". NCI Wiki. Retrieved 2024-11-14.
  10. ^ 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. doi:10.1002/humu.22844. ISSN 1098-1004. PMC 4833888. PMID 26220891.
  11. ^ Dyke, Stephanie O. M.; Knoppers, Bartha M.; Hamosh, Ada (2017). ""Matching" consent to purpose: The example of the Matchmaker Exchange". Human Mutation. 38 (10): 1281–1285. doi:10.1002/humu.23278. ISSN 1098-1004. PMC 5669800. PMID 28699299.
  12. ^ 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. 21 (2): 493–497. doi:10.1038/s41436-018-0076-7. ISSN 1530-0366. PMID 29930391.
  13. ^ 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. 17 (2). Elsevier BV: 158–163. doi:10.1038/gim.2014.84. ISSN 1098-3600. PMC 4859213. PMID 25032988.
  14. ^ 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. doi:10.1002/ajmg.a.62239. ISSN 1552-4825.
  15. ^ International, HUGO (2024-07-15). "HUGO President & Executive Board Members". HUGO International. Retrieved 2024-11-14.
  16. ^ "ASHG 2024: Stalwarts of Human Genetics Receive Professional Awards". GEN - Genetic Engineering and Biotechnology News. 2024-11-05. Retrieved 2024-11-14.
  17. ^ "NORD Announces 2023 Rare Impact Award Honorees and 40th Anniversary Celebration". National Organization for Rare Disorders. 2023-02-27. Retrieved 2024-11-14.
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