David Altshuler (physician)

This article is about the physician and geneticist. For the Judaic scholar of the same name, see David Altshuler (curator).
David Altshuler
Born
David Matthew Altshuler

(1964-08-27) August 27, 1964
Ithaca, New York
Education
Known forHapMap awards =
SpouseJill Suttenberg Altshuler
Scientific career
Institutions
ThesisEndogenous retinal activities that influence the development of rod photoreceptors in vitro (1994)
Doctoral advisorConnie Cepko
Websitewww.vrtx.com/our-team/senior-management

David Matthew Altshuler (born August 27, 1964)[3] is a clinical endocrinologist and human geneticist. Altshuler has done work in the field of genetics as it relates to human disease.[4]

Career

Altschuler joined Vertex in 2015 as Executive Vice President and Chief Scientific Officer.[5]

At Vertex, he has helped develop and implement the company’s research strategy, which has led to the approval of several new therapies.[6][5] Prior to joining Vertex, he was one of four Founding Core Members of the Broad Institute of Harvard and MIT,[7][6][8] and served as the Institute's Deputy Director and Chief Academic Officer.[9] At the Broad he was Director of the Program in Medical and Population Genetics,[6] which focused on the underlying genetic basis of diseases.[10][11][12][13] He was a Professor of Genetics and Medicine at Harvard Medical School, and is currently a senior lecturer at Harvard and Massachusetts General Hospital.[9][14][15] From 2012 to 2014 he was also an adjunct professor of Biology at Massachusetts Institute of Technology,[9] and was the director of the medical and population genetics program at the Whitehead Institute/M.I.T Center for Genome Research.[16] He was also a faculty member in the Department of Molecular Biology, Center for Human Genetic Research, and the Diabetes Unit, all at Massachusetts General Hospital.

Education

Altshuler attended Commonwealth School in Boston, received his Bachelor of Science from Massachusetts Institute of Technology,[17] his Ph.D. from Harvard University, and his M.D. from Harvard Medical School.[18] He completed his internship, residency, and clinical fellowship training at Massachusetts General Hospital.

Research

Altshuler's academic research focused on human genetic variation and its application to disease,[19][20][21][22] using information from the Human Genome Project.[23] He has co-led the SNP Consortium, International HapMap Project,[24][25] and 1000 Genomes Project[26][27][28] His research focused on the genetic basis of Type 2 Diabetes, and his laboratory contributed to mapping dozens of gene variants that are associated with risk of Type 2 Diabetes, lipid levels, myocardial infarction, rheumatoid arthritis, lupus, prostate cancer, and other disorders.

Awards and honors

Among his awards is election to the American Society for Clinical Investigation, the Association of American Physicians, and the Institute of Medicine. He is a member of the board of directors of the American Society of Human Genetics and was previously a member of the board of Vertex Pharmaceuticals. In 2011 he won the Curt Stern Award of the American Society of Human Genetics, and in 2012 the Outstanding Scientific Achievement Award of the American Diabetes Association. He is a member of the board of trustees of Becket Chimney Corners YMCA.

References

  1. ^ Chakravarti, A. (2012). "2011 Introduction to Curt Stern Award". The American Journal of Human Genetics. 90 (3): 405–406. doi:10.1016/j.ajhg.2012.02.015. PMC 3309201. PMID 22405085.
  2. ^ Altshuler, D. (2012). "2011 Curt Stern Award Address". The American Journal of Human Genetics. 90 (3): 407–409. doi:10.1016/j.ajhg.2012.02.017. PMC 3309200. PMID 22405086.
  3. ^ "Altshuler, David, 1964-". id.loc.gov. Retrieved January 7, 2021.
  4. ^ Philippidis, Alex (2021-02-24). "From Genomes to Drugs: An Interview with Vertex CSO David Altshuler". GEN - Genetic Engineering and Biotechnology News. Retrieved 2025-12-24.
  5. ^ a b Cite error: The named reference :0 was invoked but never defined (see the help page).
  6. ^ a b c Fidler, Ben (5 August 2025). "David Altshuler, geneticist who helped transform Vertex, to retire next year | BioPharma Dive". www.biopharmadive.com.
  7. ^ "David Altshuler | Broad Institute of MIT and Harvard". Archived from the original on 2012-03-27.
  8. ^ "Broad Institute's Altshuler joining Vertex". BostonGlobe.com. 21 December 2014.
  9. ^ a b c "Dr David Altshuler PhD". Bloomberg.com. 3 November 2025.
  10. ^ Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M.; Mahajan, Anubha; Agarwala, Vineeta; Gaulton, Kyle J.; Ma, Clement; Fontanillas, Pierre; Moutsianas, Loukas; McCarthy, Davis J.; Rivas, Manuel A.; Perry, John R. B.; Sim, Xueling; Blackwell, Thomas W.; Robertson, Neil R. (2016-08-04). "The genetic architecture of type 2 diabetes". Nature. 536 (7614): 41–47. doi:10.1038/nature18642. ISSN 1476-4687. PMC 5034897. PMID 27398621.
  11. ^ "Bigger Biology". www.harvardmagazine.com. 2006-11-01.
  12. ^ David Altshuler's publications indexed by the Scopus bibliographic database. (subscription required)
  13. ^ Altshuler, D; Hirschhorn, J. N.; Klannemark, M; Lindgren, C. M.; Vohl, M. C.; Nemesh, J; Lane, C. R.; Schaffner, S. F.; Bolk, S; Brewer, C; Tuomi, T; Gaudet, D; Hudson, T. J.; Daly, M; Groop, L; Lander, E. S. (2000). "The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes". Nature Genetics. 26 (1): 76–80. doi:10.1038/79216. PMID 10973253. S2CID 25842690.
  14. ^ "David Matthew Altshuler, M.D., Ph.D." connects.catalyst.harvard.edu.
  15. ^ "David Altshuler". @broadinstitute. 2015-11-23.
  16. ^ "Broad Institute created:". Harvard Gazette. 2003-07-17.
  17. ^ "David Altshuler '86 | MIT Alumni Association's Infinite Connection". Archived from the original on 2011-08-06.
  18. ^ "David Altshuler, M.D., Ph.D. | HMS Department of Genetics". Archived from the original on 2012-03-08.
  19. ^ Altshuler, D.; Daly, M. J.; Lander, E. S. (2008). "Genetic Mapping in Human Disease". Science. 322 (5903): 881–888. Bibcode:2008Sci...322..881A. doi:10.1126/science.1156409. PMC 2694957. PMID 18988837.
  20. ^ Mootha, V. K.; Lindgren, C. M.; Eriksson, K. F.; Subramanian, A.; Sihag, S.; Lehar, J.; Puigserver, P.; Carlsson, E.; Ridderstråle, M.; Laurila, E.; Houstis, N.; Daly, M. J.; Patterson, N.; Mesirov, J. P.; Golub, T. R.; Tamayo, P.; Spiegelman, B.; Lander, E. S.; Hirschhorn, J. N.; Altshuler, D.; Groop, L. C. (2003). "PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes". Nature Genetics. 34 (3): 267–273. doi:10.1038/ng1180. PMID 12808457. S2CID 13940856.
  21. ^ Lander, E. S.; Altshuler, M.; Ireland, D.; Sklar, J.; Ardlie, P.; Patil, K.; Shaw, N.; Lane, C. R.; Lim, E. P.; Kalyanaraman, N.; Nemesh, J.; Ziaugra, L.; Friedland, L.; Rolfe, A.; Warrington, J.; Lipshutz, R.; Daley, G. Q.; Lander, E. S. (1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nature Genetics. 22 (3): 231–238. doi:10.1038/10290. PMID 10391209. S2CID 195213008.
  22. ^ De Bakker, P. I. W.; Yelensky, R.; Pe'Er, I.; Gabriel, S. B.; Daly, M. J.; Altshuler, D. (2005). "Efficiency and power in genetic association studies". Nature Genetics. 37 (11): 1217–1223. doi:10.1038/ng1669. PMID 16244653. S2CID 15464860.
  23. ^ Gabriel, S. B.; Schaffner, S. F.; Nguyen, H.; Moore, J. M.; Roy, J.; Blumenstiel, B.; Higgins, J.; Defelice, M.; Lochner, A.; Faggart, M.; Liu-Cordero, S. N.; Rotimi, C.; Adeyemo, A.; Cooper, R.; Ward, R.; Lander, E. S.; Daly, M. J.; Altshuler, D. (2002). "The Structure of Haplotype Blocks in the Human Genome". Science. 296 (5576): 2225–2229. Bibcode:2002Sci...296.2225G. doi:10.1126/science.1069424. PMID 12029063. S2CID 10069634.
  24. ^ Gibbs, R. A.; Belmont, J. W.; Hardenbol, P.; Willis, T. D.; Yu, F.; Yang, H.; Ch'Ang, L. Y.; Huang, W.; Liu, B.; Shen, Y.; Tam, P. K. H.; Tsui, L. C.; Waye, M. M. Y.; Wong, J. T. F.; Zeng, C.; Zhang, Q.; Chee, M. S.; Galver, L. M.; Kruglyak, S.; Murray, S. S.; Oliphant, A. R.; Montpetit, A.; Hudson, T. J.; Chagnon, F.; Ferretti, V.; Leboeuf, M.; Phillips, M. S.; Verner, A.; Kwok, P. Y. (2003). "The International HapMap Project" (PDF). Nature. 426 (6968): 789–796. Bibcode:2003Natur.426..789G. doi:10.1038/nature02168. hdl:2027.42/62838. PMID 14685227. S2CID 4387110.
  25. ^ Frazer, K. A.; et al. (2007). "A second generation human haplotype map of over 3.1 million SNPs". Nature. 449 (7164): 851–861. Bibcode:2007Natur.449..851F. doi:10.1038/nature06258. PMC 2689609. PMID 17943122.
  26. ^ Gabriel, S. B.; Schaffner, S. F.; Nguyen, H.; Moore, J. M.; Roy, J.; Blumenstiel, B.; Higgins, J.; Defelice, M.; Lochner, A.; Faggart, M.; Liu-Cordero, S. N.; Rotimi, C.; Adeyemo, A.; Cooper, R.; Ward, R.; Lander, E. S.; Daly, M. J.; Altshuler, D. (2002). "The Structure of Haplotype Blocks in the Human Genome". Science. 296 (5576): 2225–2229. Bibcode:2002Sci...296.2225G. doi:10.1126/science.1069424. PMID 12029063. S2CID 10069634.
  27. ^ Sachidanandam, R.; Weissman, D.; Schmidt, S. C.; Kakol, J. M.; Stein, L. D.; Marth, G.; Sherry, S.; Mullikin, J. C.; Mortimore, B. J.; Willey, D. L.; Hunt, S. E.; Cole, C. G.; Coggill, P. C.; Rice, C. M.; Ning, Z.; Rogers, J.; Bentley, D. R.; Kwok, P. Y.; Mardis, E. R.; Yeh, R. T.; Schultz, B.; Cook, L.; Davenport, R.; Dante, M.; Fulton, L.; Hillier, L.; Waterston, R. H.; McPherson, J. D.; Gilman, B.; Schaffner, S. (2001). "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms". Nature. 409 (6822): 928–933. Bibcode:2001Natur.409..928S. doi:10.1038/35057149. PMID 11237013.
  28. ^ David Altshuler publications in Google Scholar
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