"Maya is the first person in history with an error in this gene," says RGI founder Jimmy Lin. "So, you could say we may have identified a new disease through this ... and we're now able to take next steps."DNA sequencing has already revolutionized the way we diagnose and treat diseases like cancer. However, it's especially useful for rare diseases that may hinge on just a few individuals.Read More
The organization’s founder Jimmy Lin shared the stories of some of the patients using the service this week at TED. Anyone can view any patient's story on the Rare Genomics Insitute’s site, which describes the symptoms of the rare diseases that the patient is facing, then offers visitors a way to make a donation towards research.
Currently, the organization is piloting its program with four campaigns running on its site. However, Lin said that there are an additional 30 cases in the pipeline, with those patients paired with 13 different universities and research institutions across the country that are supporting the initiative.Read More