James R. Lupski
James R. Lupski (born February 22, 1957)[1] is the Cullen Endowed Chair in Molecular Genetics and Professor in the Department of Pediatrics at Baylor College of Medicine.[2] Lupski obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. He later moved for his Residency in Pediatrics to Baylor College of Medicine, where he has stayed since. Lupski is affected by a genetic disease called Charcot-Marie-Tooth (CMT) and has studied the condition throughout his entire research career. He has also contributed to the discovery and definition of other genomic disorders caused by chromosomal copy number changes and several genetic diseases including Potocki-Lupski syndrome.[3][4]
See also
[edit]References
[edit]- ^ "James R. Lupski". Science History Institute. Retrieved September 5, 2018.
- ^ "James R. Lupski, M.D., Ph.D." Baylor College of Medicine. Retrieved May 8, 2011.
- ^ Lupski, J. R.; Reid, J. G.; Gonzaga-Jauregui, C.; Rio Deiros, D.; Chen, D. C. Y.; Nazareth, L.; Bainbridge, M.; Dinh, H.; Jing, C.; Wheeler, D. A.; McGuire, A. L.; Zhang, F.; Stankiewicz, P.; Halperin, J. J.; Yang, C.; Gehman, C.; Guo, D.; Irikat, R. K.; Tom, W.; Fantin, N. J.; Muzny, D. M.; Gibbs, R. A. (2010). "Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy". New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. PMC 4036802. PMID 20220177.
- ^ "Discovery Adds New Twist to Certain Genetic Diseases". Baylor College of Medicine. Archived from the original on March 17, 2012. Retrieved May 8, 2011.
- Living people
- Baylor College of Medicine physicians and researchers
- 1957 births
- American pediatricians
- American geneticists
- New York University Grossman School of Medicine alumni
- Members of the National Academy of Medicine
- Physicians with disabilities
- American scientists with disabilities
- American academic biography stubs