After talking with Illumina’s CEO, I spoke with Jimmy Lin of the Rare Genomics Institute   about his innovative approach to patient-centricity in treating rare diseases.  Dr. Lin has created a crowd sourcing model where patients and their families can raise funds through social networking, use those funds to sequence a genome using services such as IGS, partner with geneticists willing to help interpret the results, and then make the case to pharmaceutical companies to pursue novel treatments based on solid biological data.  In essence, the Rare Genomics Institute is a virtual biotech company – patients and families raise the funds (IGS charges roughly $9500 for a whole genome), quickly generate a DNA sequence library, work with volunteer physicians and researchers to identify genetic regions unique to their disease, and present that data to patient advocacy groups and interested biopharmaceutical companies to pursue treatments. 

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“Though we need to do further research to confirm this first gene discovery, it is a major milestone,” said RGI founder Jimmy Lin, MD, PhD, a physician-scientist on the faculty at Washington University in St. Louisand a 2012 TED Fellow. “The most exciting part of Maya’s project is that we are enabling research that could not exist otherwise. Through RGI’s network of academic institutions and crowdfunding, we hope to remove the barriers to technology access and funding to empower families like Maya’s to advance research for their loved one’s rare disease.”

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