Joshua Knowles MD, PhD

Dr. Joshua Knowles is a physician-scientist, and the overall theme of his research has been understanding the genetic basis of cardiovascular disease. His work stretches across the scientific continuum from Discovery to the development of Model Systems, to the Translation of these findings to clinical applications, and most recently to the Public Health aspect of genetics. Josh completed his MD-PhD at UNC with Prof. Nobuyo Maeda and Nobel Laureate Oliver Smithies. He did Internal Medicine residency and Cardiology fellowship training at Stanford working with Dr. Tom Quertermous.

Currently, his Discovery and basic Translational efforts center on understanding the genetic basis of insulin resistance using GWAS studies coupled with exploration in model systems. His clinical translational focus is on Familial Hypercholesterolemia (FH), and he is the volunteer Chief Medical Advisor of the FH 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. He helped lead the FHF efforts to establish a national patient registry (CASCADE FH) and to apply for an ICD10 code for FH, and he is now using cutting-edge “big-data” approaches to identify previously undiagnosed FH patients in electronic medical records (FIND FH). He has published over 90 papers with research projects currently funded by the National Institutes of Health, the American Heart Association, and the Doris Duke Charitable Foundation.