David Matthew Altshuler (born August 27, 1964)[3] is a clinical
endocrinologist and human
geneticist. He is Executive Vice President, Global Research and Chief Scientific Officer at
Vertex Pharmaceuticals.[4] Prior to joining Vertex in 2014, he was at the
Broad Institute of Harvard and MIT,[5] and was a Professor of Genetics and Medicine at
Harvard Medical School, and in the Department of Biology at Massachusetts Institute of Technology. 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. He was one of four Founding Core Members of the
Broad Institute, and served as the Institute's Deputy Director, Chief Academic Officer, and Director of the Program in Medical and Population Genetics.[6][7]
Altshuler's academic research focused on human
genetic variation and its application to disease,[10][11][12][13] using information from the
Human Genome Project.[14] He has co-led the
SNP Consortium,
International HapMap Project,[15][16] and
1000 Genomes Project[17][18][19] 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.
^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.
PMID10973253.
S2CID25842690.
^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.
PMID12808457.
S2CID13940856.
^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.
PMID10391209.
S2CID195213008.
^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.
PMID16244653.
S2CID15464860.
^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.
PMID14685227.
S2CID4387110.