David Goldstein (geneticist)
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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 St ...
. He then trained in theoretical population genetics at
Stanford University Stanford University, officially Leland Stanford Junior University, is a private research university in Stanford, California. The campus occupies , among the largest in the United States, and enrolls over 17,000 students. Stanford is consider ...
(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 Duke University is a private research university in Durham, North Carolina. Founded by Methodists and Quakers in the present-day city of Trinity in 1838, the school moved to Durham in 1892. In 1924, tobacco and electric power industrialist James ...
. In 2014, he became the John E. Borne Professor of Medical and Surgical Research at
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 ...
where he serves as the Director of
Institute for Genomic Medicine An institute is an organisational body created for a certain purpose. They are often research organisations (research institutes) created to do research on specific topics, or can also be a professional body. In some countries, institutes can ...
.


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 Interferon lambda 3 (gene symbol: ''IFNL3)'' encodes the IFNL3 protein. ''IFNL3'' was formerly named ''IL28B'', but the Human Genome Organization Gene Nomenclature Committee renamed this gene in 2013 while assigning a name to the then newly disc ...
in response to treatment for Hepatitis C infection in collaboration with John McHutchison and others. *Identification of
ATP1A3 Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ''ATP1A3'' gene. Function The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of ...
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 The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH). It conducts and funds research on brain and nervous system disorders and has a budget of just over US$2.03 billion. The ...
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

* * * *


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)