Joshua W. Knowles

I am a physician-scientist and the overall theme my research has been the genetic basis of cardiovascular disease across the continuum from Discovery to the development of Model Systems to the Translation of these findings to the clinic and most recently to the Public Health aspect of genetics. I completed his MD-PhD at UNC with Prof. Nobuyo Maeda and Nobel Laureate Oliver Smithies. I did Internal Medicine residency and Cardiology fellowship training at Stanford working with Dr. Tom Quertermous. Currently my Discovery and basic translational efforts center on understanding the genetic basis of insulin resistance using GWAS studies coupled with exploration in model systems including iPSCs and CRISPR screens. My clinical translational focus is on Familial Hypercholesterolemia (FH) and I am the volunteer Chief Research Advisor of the Family Heart Foundation (FHF) which is a patient-led organization dedicated to increasing awareness of FH, identifying and treating patients with FH and screening family members to prevent deleterious outcomes. I helped lead the FHF efforts to establish a national patient registry (CASCADE FH), apply for an ICD10 code for FH and using cutting-edge “big-data” approaches to identify previously undiagnosed FH patients in electronic medical records (FIND FH). I have published over 120 papers with research projects currently funded by the National Institutes of Health, the American Diabetes Association, the American Heart Association and the Doris Duke Charitable Foundation.