In this educational webinar we discuss our current understanding of the genetic basis of inherited retinal disease (IRD) and the present and emerging reasons for offering genetic diagnostics for these patients. 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 that Blueprint Genetics has implemented to address these challenges and an outline of our experiences with thousands of IRD patients analyzed at Blueprint to date. New updates and improvements launched by Blueprint Genetics in 2018 for IRD disease diagnostics will be highlighted as well.
Tero-Pekka is the Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.