Keith L. Keene

Degree(s): PhD Graduate School: Wake Forest University School of Medicine Primary Appointment: Assistant Professor, Public Health Sciences Research Interests: Health disparities, genetics of diabetes, genetics of stroke. Email Address: klk4a@virginia.edu

Research Description

Diabetes is a global epidemic affecting more than 23 million people in the United States, alone. Diabetes related complications such as nephropathy, neuropathy, cardiovascular disease and stroke, are severe public health concerns. Environmental as well as genetic risk factors contribute to the development and progression of the disease. Over the past eight years, my research has focused on identifying and evaluating genetic risk factors of complex diseases, specifically type 1 and type 2 diabetes. More recently, I have collaborated on genetic studies of ischemic (and recurrent) stroke. My research experience includes using genetic, statistical and molecular biology methodologies, such as next generation DNA sequencing and high throughput genotyping to identify risk variants, implementing statistical software packages to test for association in family, case-control, and admixed populations, and performing functional assays to determine the biological relevance for associated variants. The identification of genetic risk factors will result in functional studies and potentially countless opportunities for multidisciplianary collaborations with experts outside of the particular disease field to further explore these findings in either animal models or clinical trials. With this understanding, more effective treatment regimens could be applied, pre symptomatic individuals would be identified that might benefit from early intervention, and new drugs could be devised to alter the function of important metabolic pathways.

Selected Publications

• Keene KL, Quinlan AR, Hou X, Hall IM, Mychaleckyj JC, Onengut-Gumuscu S, Concannon P. Evidence for two independent associations with type 1 diabetes at the 12q13 locus. Genes Immun. (in press).
• Keene KL, Mychaleckyj JC, Leak TS, Smith SG, Perlegas PS, Divers J, Langefeld CD, Freedman BI, Bowden DW, Sale MM. Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end-stage renal disease. Hum Genet. 2008 Sep; 124(2):147-54. PMC2786006.
• Keene KL, Mychaleckyj JC, Smith SG, Leak TS, Perlegas PS, Langefeld CD, Herrington DM, Freedman BI, Rich SS, Bowden DW, Sale MM. Comprehensive evaluation of the Estrogen Receptor Alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population. Hum Genet. 2008 May; 123(4): 333-41. PMC2752813.
• Keene KL, Mychaleckyj JC, Smith SG, Leak TS, Perlegas PS, Langefeld CD, Freedman BI, Rich SS, Bowden DW, Sale MM. Association of the distal region of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) gene with type 2 diabetes in an African American population enriched for nephropathy. Diabetes. 2008 Apr; 57(4): 1057-62.