Genetics of Renal Diseases to Be Outlined in Winn Lecture

Cheryl Ann Winkler, PhD

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A pioneer in investigations to reveal the host’s genetic architecture related to infectious diseases and associated co-morbidities will speak on “GWAS in Nephrology.” Cheryl Ann Winkler, PhD, will deliver the Michelle P. Winn, MD, Endowed Lectureship on Thursday, Nov. 17.

Dr. Winkler is a senior investigator in the basic research laboratory and head of the molecular genetic epidemiology section at the National Cancer Institute. She led the genetics team that used admixture mapping to identify the region of chromosome 22 harboring MYH9 and APOL1, two genes associated with kidney diseases. That research identified MYH9 as a major susceptibility gene for common etiologies of chronic and end stage renal disease and APOL1’s role in the greatly increased susceptibility of African Americans to HIV-associated nephropathy and focal segmental glomerulosclerosis (FSGS).

APOL1 variants are predictors of chronic kidney disease and markers for progression, but they also protect against the tropical disease trypanosomiasis, commonly known as sleeping sickness. Her team is now identifying the spectrum of phenotypes associated with APOL1 risk alleles in American and African cohorts and investigating the pathophysiological mechanism leading to glomerular injury. They are studying the influence of APOL1 risk variants on living kidney donors and on kidney graft survival in African Americans. A goal of this research is to develop biomarkers for diagnostics and prognostics and to identify drug targets to treat kidney diseases.

Her team is also participating in the Family Investigation of Nephropathy and Diabetes (FIND) consortium, with the goal of discovering genetic risk factors for diabetic nephropathy and end stage renal disease.

Dr. Winkler is author or co-author of more than 160 publications. She is also a senior principal scientist with Leidos Biomedical Research at the Frederick National Laboratory for Cancer Research as well as an honorary professor in the school of clinical medicine at the University of KwaZulu-Natal in South Africa.

Dr. Winkler received a master’s degree in genetics and a PhD in immunogenetics from the University of Maryland, College Park. She completed her dissertation research and a postdoctoral fellowship at the laboratory of genomic diversity at the National Cancer Institute.

October/November 2016  (Vol 8, Issue 10/11)