Ada Hamosh
{{Short description|American pediatrician and geneticist}}
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.' After college at Wesleyan and medical school at Georgetown, she chose Johns Hopkins for pediatrics residency, Hamosh completed the Residency in Pediatrics at Hopkins along with her Genetics fellowship.{{cite journal | last1=Rasmussen | first1=Sonja A. | last2=Hamosh | first2=Ada | title=Memories of Victor A. McKusick | journal=American Journal of Medical Genetics Part A | volume=185 | issue=11 | date=2021 | issn=1552-4825 | doi=10.1002/ajmg.a.62431 | pages=3377–3383}}
Career
Hamosh assumed the position of scientific director of Online Mendelian Inheritance in Man (OMIM®).{{cite journal |last1=Hamosh |first1=Ada |last2=Amberger |first2=Joanna S. |last3=Bocchini |first3=Carol |last4=Scott |first4=Alan F. |last5=Rasmussen |first5=Sonja A. |date=2021 |title=Online Mendelian Inheritance in Man ( OMIM ®): Victor McKusick 's magnum opus |journal=American Journal of Medical Genetics Part A |volume=185 |issue=11 |pages=3259–3265 |doi=10.1002/ajmg.a.62407 |issn=1552-4825 |pmc=8596664 |pmid=34169650 |doi-access=free}}{{cite journal |last1=Amberger |first1=Joanna S. |last2=Bocchini |first2=Carol A. |last3=Scott |first3=Alan F. |last4=Hamosh |first4=Ada |date=2019-01-08 |title=OMIM.org: leveraging knowledge across phenotype-gene relationships |journal=Nucleic Acids Research |volume=47 |issue=D1 |pages=D1038–D1043 |doi=10.1093/nar/gky1151 |issn=1362-4962 |pmc=6323937 |pmid=30445645 |doi-access=free}}{{cite journal |last1=Amberger |first1=Joanna S. |last2=Hamosh |first2=Ada |date=2017-06-27 |title=Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes |journal=Current Protocols in Bioinformatics |volume=58 |pages=1.2.1–1.2.12 |doi=10.1002/cpbi.27 |issn=1934-340X |pmc=5662200 |pmid=28654725 |doi-access=free}} She served as co-chair of the phenotype review committee of the Baylor-Hopkins Centers for Mendelian Genomics (CMG),{{cite journal |last=Baxter |first=Samantha M. |date=2022 |title=Centers for Mendelian Genomics: A decade of facilitating gene discovery |journal=Genetics in Medicine |volume=24 |issue=4 |pages=784–797 |doi=10.1016/j.gim.2021.12.005 |pmc=9119004 |pmid=35148959 |doi-access=free |last237=Zhang |first237=Yan |last238=Zhang |first238=Xiaohong |last239=Zhang |first239=Yeting |last240=Zhang |first240=Shifa |last241=Zoghbi |first241=Huda |last242=van den Veyver |first242=Igna}} a National Human Genome Research Institute-funded project to identify disease genes. She helped developed PhenoDB,{{cite journal |last1=Wohler |first1=Elizabeth |last2=Martin |first2=Renan |last3=Griffith |first3=Sean |last12=Hamosh |first12=Ada |last13=Sobreira |first13=Nara |date=2021 |title=PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data |journal=Orphanet Journal of Rare Diseases |volume=16 |issue=1 |page= 365|doi=10.1186/s13023-021-01916-z |issn=1750-1172 |pmc=8371856 |pmid=34407837 |doi-access=free}} a web-based phenotype and genotype platform that is freely available for clinical and research use,{{cite web | last=Morrissey | first=Laurie (NIH/NCI) [C] | title=April 1: Dr. Ada Hamosh and Dr. Nara Sobreira, PhenoDB: A Tool for Collection and Analysis of Phenotypic and Genomic Data | website=NCI Wiki | date=2015-03-23 | url=https://wiki.nci.nih.gov/pages/viewpage.action?pageId=282460258 | access-date=2024-11-14}} and associated tools including GeneMatcher{{cite journal |last1=Sobreira |first1=Nara |last2=Schiettecatte |first2=François |last3=Valle |first3=David |last4=Hamosh |first4=Ada |date=2015 |title=GeneMatcher: a matching tool for connecting investigators with an interest in the same gene |journal=Human Mutation |volume=36 |issue=10 |pages=928–930 |doi=10.1002/humu.22844 |issn=1098-1004 |pmc=4833888 |pmid=26220891 |doi-access=free}} and Matchmaker Exchange.{{cite journal |last1=Dyke |first1=Stephanie O. M. |last2=Knoppers |first2=Bartha M. |last3=Hamosh |first3=Ada |last9=Rehm |first9=Heidi L. |date=2017 |title="Matching" consent to purpose: The example of the Matchmaker Exchange |journal=Human Mutation |volume=38 |issue=10 |pages=1281–1285 |doi=10.1002/humu.23278 |issn=1098-1004 |pmc=5669800 |pmid=28699299 |doi-access=free}}
Her tools have contributed to medical education{{cite journal |last1=Lee-Barber |first1=Jasmine |last2=Kulo |first2=Violet |last3=Lehmann |first3=Harold |last4=Hamosh |first4=Ada |last5=Bodurtha |first5=Joann |date=2019 |title=Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education |journal=Genetics in Medicine|volume=21 |issue=2 |pages=493–497 |doi=10.1038/s41436-018-0076-7 |issn=1530-0366 |pmid=29930391 |doi-access=free}}{{cite journal |last1=Diehl |first1=Adam C. |last2=Reader |first2=Lauren |last3=Hamosh |first3=Ada |last4=Bodurtha |first4=Joann N. |year=2015 |title=Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles |journal=Genetics in Medicine |publisher=Elsevier BV |volume=17 |issue=2 |pages=158–163 |doi=10.1038/gim.2014.84 |issn=1098-3600 |doi-access=free|pmid=25032988 |pmc=4859213 }} 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.{{cite journal |last1=de Macena Sobreira |first1=Nara Lygia |last2=Hamosh |first2=Ada |date=2021 |title=Next-generation sequencing and the evolution of data sharing |journal=American Journal of Medical Genetics Part A |volume=185 |issue=9 |pages=2633–2635 |doi=10.1002/ajmg.a.62239 |issn=1552-4825}}
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.{{cite web |last=International |first=HUGO |date=2024-07-15 |title=HUGO President & Executive Board Members |url=https://www.hugo-international.org/hugo-president-council/ |access-date=2024-11-14 |website=HUGO International}}
Awards
- American Society for Human Genetics (ASHG) Education Award, 2024.{{cite web | title=ASHG 2024: Stalwarts of Human Genetics Receive Professional Awards | website=GEN - Genetic Engineering and Biotechnology News | date=2024-11-05 | url=https://www.genengnews.com/topics/omics/ashg-2024-stalwarts-of-human-genetics-receive-professional-awards/?utm_campaign=ASHG+Special+Edition&utm_medium=email&_hsenc=p2ANqtz-_P2LsouCyO0FzgMk7VfwpJ4VUFQ_U8uqqRerSKnNOZsWrnCFDG7O3OldwqG5DsSuSYn4ek4fXaFjboCGqKWS0VndbCi-qV85sYa2uGtTQnpLeGhEA&_hsmi=333352907&utm_content=333352907&utm_source=hs_email | access-date=2024-11-14}}
- National Organization for Rare Disorders (NORD) Rare Impact Award, 2023.{{cite web |date=2023-02-27 |title=NORD Announces 2023 Rare Impact Award Honorees and 40th Anniversary Celebration |url=https://rarediseases.org/announces-2023-ria-honorees/ |access-date=2024-11-14 |website=National Organization for Rare Disorders}}
- David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic Medicine, 2021.{{cite web |last=Genetics |first=American College of Medical |date=2021-04-13 |title=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 |url=https://www.prnewswire.com/news-releases/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-301261564.html |access-date=2024-11-14 |website=PR Newswire}}
Personal life
References
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