David B. Goldstein (geneticist)

David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.

David B. Goldstein
Alma mater
Websitehttp://www.igm.columbia.edu/people-labs/labs/goldstein-lab Edit this on Wikidata
Scientific career
FieldsHuman genetics edit this on wikidata
ThesisApplications of theoretical population genetics to ploidy level evolution and phylogenetic reconstruction
Doctoral advisorMarcus Feldman
Doctoral studentsDavid Reich[1]


Goldstein graduated from Laguna Beach High School[citation needed], and received a Bachelors in biology from the University of California, Los Angeles.[2] He then trained in theoretical population genetics at Stanford University (PhD 1994), where he worked with Marcus Feldman and Luca Cavalli Sforza.[2]


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.[3]
  • Identification of ATP1A3 as the gene responsible for Alternating Hemiplegia of Childhood in collaboration with Erin Heinzen and others.[4]
  • Discovery of NGLY1 deficiency as a new syndrome in collaboration with Vandana Shashi, Anna Need, and others.[5][6]
  • New genes for epileptic encephalopathies as part of the Epi4K Consortium.[7][8]


  • 1996-1999: Lecturer, University of Oxford
  • 1999-2005: Wolfson Professor of Genetics, University College London
  • 2005–2014: Richard and Pat Johnson Distinguished University Professor of Genetics, Microbiology, and Biology, Duke University and Director for the Center for Human Genome Variation
  • 2014–present: John E. Borne Professor of Medical and Surgical Research, Columbia University and Director, Institute for Genomic Medicine, Columbia University Medical Center

Awards and serviceEdit

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.


  1. ^ Reich, David Emile (1999). Genetic analysis of human evolutionary history with implications for gene mapping. ox.ac.uk (DPhil thesis). University of Oxford. OCLC 863264589. EThOS uk.bl.ethos.580823.  
  2. ^ a b "Goldstein Lab". Institute of Genomic Medicine. 2015-11-20. Retrieved 2018-01-08.
  3. ^ Ge, D.; Fellay, J.; Thompson, A. J.; Simon, J. S.; Shianna, K. V.; Urban, T. J.; Heinzen, E. L.; Qiu, P.; Bertelsen, A. H.; Muir, A. J.; Sulkowski, M.; McHutchison, J. G.; Goldstein, D. B. (2009). "Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance". Nature. 461 (7262): 399–401. doi:10.1038/nature08309. PMID 19684573.
  4. ^ Heinzen, E. L.; Swoboda, K. J.; Hitomi, Y.; Gurrieri, F.; Nicole, S.; De Vries, B.; Tiziano, F. D.; Fontaine, B.; Walley, N. M.; Heavin, S. A.; Panagiotakaki, E.; Nicole, S.; Gurrieri, F.; Neri, G.; Fiori, B.; Abiusi, S.; Di Pietro, J.; Sweney, M.; Newcomb, N.; Viollet, L.; Huff, J.; Jorde, M.; Reyna, A.; Murphy, C.; Shianna, M. T.; Gumbs, F.; Little, R.; Silver, M.; Ptáček, G.; et al. (2012). "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood". Nature Genetics. 44 (9): 1030–1034. doi:10.1038/ng.2358. PMC 3442240. PMID 22842232.
  5. ^ Need, A. C.; Shashi, V.; Hitomi, Y.; Schoch, K.; Shianna, K. V.; McDonald, M. T.; Meisler, M. H.; Goldstein, D. B. (2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". Journal of Medical Genetics. 49 (6): 353–361. doi:10.1136/jmedgenet-2012-100819. PMC 3375064. PMID 22581936.
  6. ^ "Hunting down my son's killer". Matt.might.net. Retrieved 2014-01-10.
  7. ^ Allen, A. S.; Epilepsy Phenome/Genome, S. F.; Allen, P.; Berkovic, N.; Cossette, D.; Delanty, E. E.; Dlugos, M. P.; Eichler, T.; Epstein, D. B.; Glauser, Y.; Goldstein, E. L.; Han, Y.; Heinzen, K. B.; Hitomi, M. R.; Howell, R.; Johnson, D. H.; Kuzniecky, Y. F.; Lowenstein, M. R. Z.; Lu, A. G.; Madou, H. C.; Marson, S.; Mefford, T. J.; Esmaeeli Nieh, R.; O'Brien, S.; Ottman, A.; Petrovski, E. K.; Poduri, I. E.; Ruzzo, E. H.; Scheffer, C. J.; Sherr, B. (2013). "De novo mutations in epileptic encephalopathies". Nature. 501 (7466): 217–221. doi:10.1038/nature12439. PMC 3773011. PMID 23934111.
  8. ^ "Home". Epi4K: 4,000 Genomes. Retrieved 2018-03-24.