Utilization of NGS in Genetic Diagnostics of Inherited Retinal Diseases
Our current understanding of the genetic basis of IRD and the present and emerging reasons for offering genetic diagnostics for these patients will be discussed. A focus will be placed on the challenges involved with next generation sequencing (NGS) and considerations that should be made when selecting optimal testing for patients. The webinar will describe innovations Blueprint Genetics has implemented to address these challenges, as well as, an outline of our experiences with thousands of IRD patients analyzed at Blueprint to date.
Tero-Pekka is the Chief Medical Officer, President, and a co-founder of Blueprint Genetics. He is based in San Francisco and in charge of North American operations. He designs diagnostic panels and mutation databases and works with clinical evaluation of genetic data. Tero-Pekka has a MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. In 2007, he continued his research at Stanford University, School of Medicine. During this three year postdoctoral training, he focused on the molecular genetic mechanisms of cardiovascular diseases. He continued his cardiovascular research at the University of Helsinki as a principal investigator and the head of an academic research group.