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.

Contents

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.' [1] 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. [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. [1] 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. [1]

Related Research Articles

An allele is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule.

<span class="mw-page-title-main">Genetic disorder</span> Health problem caused by one or more abnormalities in the genome

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.

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. As of 28 June 2019, approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes.

Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components, which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia. There is a risk to develop acute myelogenous leukemia (AML) and certain other cancers.

<span class="mw-page-title-main">22q13 deletion syndrome</span> Rare genetic syndrome

22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome.

<span class="mw-page-title-main">Acrocephalosyndactyly</span> Group of diseases

Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet (syndactyly). Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development. Cranial sutures allow the skull bones to continue growing until they fuse at age 24. Premature fusing of the cranial sutures can result in alterations to the skull shape and interfere with brain growth. Syndactyly occurs when digits of the hands or feet are fused together. When polydactyly is also present, the classification is acrocephalopolysyndactyly. Polydactyly occurs when the hands or feet possess additional digits. Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern Treatment often involves surgery in early childhood to correct for craniosynostosis and syndactyly.

<span class="mw-page-title-main">Lujan–Fryns syndrome</span> Medical condition

Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs. LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart. The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the MED12 gene. There is currently no treatment or therapy for the underlying MED12 malfunction, and the exact cause of the disorder remains unclear.

<span class="mw-page-title-main">Aravinda Chakravarti</span> American geneticist

Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.

<span class="mw-page-title-main">Pontocerebellar hypoplasia</span> Group of neurodegenerative disorders

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem. Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.

<span class="mw-page-title-main">Mental retardation and microcephaly with pontine and cerebellar hypoplasia</span> Rare X-linked dominant genetic disorder

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms – is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. It usually affects females; many males die before birth or not long after.

In bioinformatics, a Gene Disease Database is a systematized collection of data, typically structured to model aspects of reality, in a way to comprehend the underlying mechanisms of complex diseases, by understanding multiple composite interactions between phenotype-genotype relationships and gene-disease mechanisms. Gene Disease Databases integrate human gene-disease associations from various expert curated databases and text mining derived associations including Mendelian, complex and environmental diseases.

The Monarch Initiative is a large scale bioinformatics web resource focused on leveraging existing biomedical knowledge to connect genotypes with phenotypes in an effort to aid research that combats genetic diseases. Monarch does this by integrating multi-species genotype, phenotype, genetic variant and disease knowledge from various existing biomedical data resources into a centralized and structured database. While this integration process has been traditionally done manually by basic researchers and clinicians on a case-by-case basis, The Monarch Initiative provides an aggregated and structured collection of data and tools that make biomedical knowledge exploration more efficient and effective.

ZC4H2 is a protein-coding gene located on the X-chromosome. This gene encodes a protein which is a member of the so-called zinc finger domain-containing protein family. There is currently very limited understanding about the ZC4H2 gene and its protein function.

<span class="mw-page-title-main">GeneMatcher</span> Online service for matching clinicians based on genes of interest

GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest. When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases. It also allows matching genes from animal models to human cases. The service aims to establish novel relationships between genes and genetic diseases of unknown cause.

<span class="mw-page-title-main">Jared Roach</span> American biologist

Jared C. Roach is an American biologist who invented the pairwise end sequencing strategy while a graduate student at the University of Washington.

<span class="mw-page-title-main">Lowry-Wood syndrome</span> Medical condition

Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2

<span class="mw-page-title-main">Chudley–Mccullough syndrome</span> Medical condition

Chudley–Mccullough syndrome is a rare genetic disorder which is characterized by bilateral congenital hearing loss associated with brain malformations. It is a type of syndromic deafness.

Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.

<span class="mw-page-title-main">Czech dysplasia, metatarsal type</span> Medical condition

Czech dysplasia metatarsal type is a rare type of Czech dysplasia which is characterized primarily by bone anomalies.

References

  1. 1 2 3 4 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.; 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.
  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. doi: 10.1002/ajmg.a.62407 . ISSN   1552-4825. PMC   8596664 . PMID   34169650.
  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. doi: 10.1093/nar/gky1151 . ISSN   1362-4962. PMC   6323937 . PMID   30445645.
  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. doi: 10.1002/cpbi.27 . ISSN   1934-340X. PMC   5662200 . PMID   28654725.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  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. doi: 10.1002/humu.22844 . ISSN   1098-1004. PMC   4833888 . PMID   26220891.
  10. ↑ 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.
  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. 21 (2): 493–497. doi: 10.1038/s41436-018-0076-7 . ISSN   1530-0366. PMID   29930391.
  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. 17 (2). Elsevier BV: 158–163. doi: 10.1038/gim.2014.84 . ISSN   1098-3600. PMC   4859213 . PMID   25032988.
  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. doi:10.1002/ajmg.a.62239. ISSN   1552-4825.
  14. ↑ International, HUGO (2024-07-15). "HUGO President & Executive Board Members". HUGO International. Retrieved 2024-11-14.
  15. ↑ "ASHG 2024: Stalwarts of Human Genetics Receive Professional Awards". GEN - Genetic Engineering and Biotechnology News. 2024-11-05. Retrieved 2024-11-14.
  16. ↑ "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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