June 24, 2016: Susceptibility to most common diseases is complex, and based on both genetic and environmental risk factors. This presentation will discuss basic concepts and current tools to identify and interpret genetic and epigenetic variation, and pitfalls in associating variants with disease risk.

Dr. Barthold is a pediatric urologist/clinician scientist at Nemours. She completed an American Foundation for Urologic Disease research fellowship under the mentorship of Julianne Imperato-McGinley, an endocrinologist at Cornell University Medical College who pioneered studies of isolated populations with inherited 5-alpha reductase deficiency. Dr. Barthold has been studying testicular descent and cryptorchidism in human populations and animals models for 25 years that have been enhanced by scientific collaborations with individuals at multiple institutions, including those with steroid receptor, muscle and neural development, genomics, genetic epidemiology, bioinformatics and biomedical engineering expertise.