Dr. Joshua Knowles
Assistant Professor
Stanford University
In this talk, Dr. Joshua Knowles discusses both monogenic and polygenic forms of the familial hypercholesteremia (FH) phenotypes and the importance of genetic cascade testing using monogenic testing as well as Polygenic Risk Scores (PRS) in FH. He will also address the practical aspects of implementing PRS in cardiac clinical care.
Dr. Joshua Knowles is a physician-scientist whose research focus 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. He 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.
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- Date & Time
- 12 Dec. 2019
- Location
- North America
- Affiliation
- Stanford University
- Presenter
- Dr. Joshua Knowles
- Topic
- Genetic & rare diseases, Complex disease genomics