Research:
Gail Jarvik MD, PhD is the Arno G. Motulsky Endowed Chair in Medicine, Joint Professor of Medicine and Genome Sciences, and Head of the Division of Medical Genetics (only the third since the founding of the division), an Adjunct Professor of Epidemiology at the UW Medical Center (UWMC) and an Affiliate Member of the Fred Hutchinson Cancer Research Center. She is a Pew Scholar in the Biomedical Sciences, and has been made a Lifetime National Associate of the National Academies, “In recognition of extraordinary service to the National Academy of Science.” She has been designated “A Local Legend from Washington” by Senator Maria Cantwell, in association with the American Medical Women’s Association and the U.S. National Library of Medicine. Her abilities as a scholar and a leader have been recognized by the National Institutes of Health, which recently asked her to chair a Genomics, Computational Biology and Technology Study Section. In addition to that service, leading the Division of Medical Genetics and actively pursuing her own research, she continues to be a practicing clinician in Internal Medicine and Medical Genetics.
Dr. Jarvik is interested in the genetic basis of complexly inherited genetic disease and has a long-standing interest in biomedical ethics. Dr. Jarvik's ongoing research focuses on four areas:
(1) Genome-wide association study (GWAS) of phenotypes from clinical electronic medical records in the eMERGE consortium. This consortium includes over 18,000 subjects at 5 sites. Phenotypes of interest include Alzheimer disease, white blood cell count, and carotid artery disease.
(2) Genetic predictors of carotid artery disease. In addition to the eMERGE data, Dr. Jarvik uses densely genotyped and phenotyped case-control cohorts to study the genetic epidemiology of carotid artery disease. Oxidation and inflammation are areas of interest.
(3) Exomic analysis of lipid disorders in large families. We are using a whole exome approach to identify rare, high penetrance mutations that influence lipid traits. Phenotypes include apolipoprotein B, HDL-C, and phospholipid transfer protein. Large families allow the phenotyping of multiple subjects sharing the same rare variants.
(4) Genetic predictors of congenital heart disease and poor neurological outcome after cardiac bypass surgery in infants. Exomic analyses are used to identify mutations that results in congenital heart disease. Dr. Jarvik is evaluating whether genetic factors predict 4-year neurological status in infants subjected to cardiac bypass, using a GWAS and exome approach. Dr. Jarvik also collaborates on GWAS studies of multiple phenotypes and exomic analyses of Mendelian disorders. Interacting faculty for multiple projects include Dr. Nickerson. |
Selected Publications:
Ronald J, Rajagopalan R, Ranchalis JE, Marshall JK, Hatsukami TS, Heagerty PJ, Jarvik GP. Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Lipids in Health and Disease 2009 Dec 1;8:52. (PMID: 19951432; PMC2794863.)
Jarvik GP, Rajagopalan R, Rosenthal EA, Wolfbauer G, McKinstry L, Vaze A, Brunzell J, Motulsky AG, Nickerson DA, Heagerty PJ, Wijsman EM, and Albers JJ. Genetic and non-genetic sources of variation in phospholipid transfer protein (PLTP) activity. J Lipid Research May;51(5):983-90, 2010 (PMID: 19965587, PMC2853466)
Ronald J, Rajagopalan R, Cerrato F, Nord AS, Hatsukami T, Kohler T, Marcovina S, Heagerty P, Jarvik GP. Genetic Variation in LPAL2, LPA, and PLG Predicts Plasma Lipoprotein(a) Level and Carotid Artery Disease Risk. Stroke. Dec 2, 2010. (PMID: 21127300; PMC302090).
Trinidad SB, Fullerton SM, Ludman EJ, Jarvik GP, Larson EB, Burke W. Research practice and participant preferences: the growing gulf. Science. Jan 21;331(6015):287-8, 2011. (PMID: 21252333; PMC3044500).
Naj A, Jun G, Beecham, G, San Wang L, Narayan Vardarajan B, Buros J, Gallins P, Buxbaum J, Jarvik G, Crane P, Larson E, Bird T, Boeve B, Graff-Radford N, De Jager P, Evans D, Schneider J, Carrasquillo M, Ertekin-Taner N, Younkin S, Cruchaga C, Kauwe J, Nowotny P, Kramer P, Hardy J, Huentelman M, Myers A, Barmada M, Demirci U, Baldwin C, Green R, Rogaeva E, St George-Hyslop P, Alzheimer Disease Genetics Consortium, Cantwell , Dombroski B, Beekly D, Lunetta K, Martin E, Kamboh I, Saykin A, Reiman E, Bennett D, Morris J, Montine T, Goate A, Blacker D, Tsuang D, Hakonarson H, Kukull W, Foroud T, Haines J, Mayeux R, Pericak-Vance M, Farrer L, Schellenberg G. Genome-wide Association Study of Late-Onset Alzheimer Disease identifies disease associated variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1. Nat Genet. 2011 May;43(5):436-41. (PMID: 21460841; PMC3090745)
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