CHAIR
:
SPEAKER
(S):
Jan K. Teller, PhD (SPKSUP), Chief Scientific Officer, Dystonia Medical Research Foundation, United States
Cheng-Ho Lin, MD,PhD (SPKSUP), CEO, Rare Genomics Institute, United States
Daniel MacArthur, PhD (SPKSUP), Group Leader, Analytic and Translational Genetics Unit, Massachusetts General Hospital, United States
Description
This session will provide a review of successful genomic studies that have been driven by strong patient-investigator relationships, and the recent role of social media and crowd sourcing in rare disease studies. It will include a case study of the identification of the first genetic causal mechanism for postural orthostatic tachycardia syndrome (POTS) due to an altered norepinephrine transporter reuptake process. Recent advances in genome sequencing technology, coupled with the rise of social media, have opened new models for research funding for rare disease. The role of nonprofit organizations in connecting genomic researchers, patients, and internet-based funders, as well as success stories from this new model, will be discussed.