David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the

Columbia University Medical Center NewYork-Presbyterian/Columbia University Irving Medical Center (NYP/CUIMC), also known as the Columbia University Irving Medical Center (CUIMC), is an academic medical center and the largest campus of NewYork-Presbyterian Hospital. It includes C ...

, Professor of

Genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...

and

Development Development or developing may refer to: Arts *Development hell, when a project is stuck in development *Filmmaking, development phase, including finance and budgeting *Development (music), the process thematic material is reshaped * Photograph ...

and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.

Education

Goldstein received a Bachelors in biology from the

University of California, Los Angeles The University of California, Los Angeles (UCLA) is a public land-grant research university in Los Angeles, California. UCLA's academic roots were established in 1881 as a teachers college then known as the southern branch of the California S ...

. He then trained in theoretical population genetics at Stanford University (PhD 1994), where he worked with Marcus Feldman and Luca Cavalli Sforza.

Career

From 1996 to 1999, Goldstein was a lecturer at

University of Oxford , mottoeng = The Lord is my light , established = , endowment = £6.1 billion (including colleges) (2019) , budget = £2.145 billion (2019–20) , chancellor ...

. He served as the Wolfson Professor of Genetics,

University College London , mottoeng = Let all come who by merit deserve the most reward , established = , type = Public research university , endowment = £143 million (2020) , budget = ...

from 1999 to 2005. In 2005, Goldstein became the Richard and Pat Johnson Distinguished University Professor of Genetics, Microbiology, and Biology at Duke University. In 2014, he became the John E. Borne Professor of Medical and Surgical Research at

where he serves as the Director of Institute for Genomic Medicine.

Research

Goldstein's primary research interests include human genetic diversity, the genetics of disease, and pharmacogenetics. The Goldstein group and collaborators have discovered a number of disease causing genes and syndromes, in particular in neurological and infectious diseases including: *The role of IL28B in response to treatment for Hepatitis C infection in collaboration with John McHutchison and others. *Identification of ATP1A3 as the gene responsible for Alternating Hemiplegia of Childhood in collaboration with Erin Heinzen and others. *Discovery of

NGLY1 deficiency NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in ''NGLY1''. It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition. Clinically, most affect ...

as a new syndrome in collaboration with Vandana Shashi, Anna Need, and others. *New genes for epileptic encephalopathies as part of the Epi4K Consortium.

Awards and service

Goldstein was elected a fellow of AAAS in 2013, received the University of North Carolina at Chapel Hill IPIT award for clinical services in 2012, and was a recipient of one of the first seven nationally awarded Royal Society / Wolfson research merit awards in the UK for his work in human population genetics. In 2013, Goldstein chaired the Gordon Research Conference in Human Genetics, and he is currently serving on the Advisory Council at the National Institute of Neurological Disorders and Stroke at

NIH The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...

Selected publications

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References

{{DEFAULTSORT:Goldstein, David B American geneticists Living people Columbia University faculty Fellows of the American Association for the Advancement of Science Year of birth missing (living people)