Crowdfunded Genetics Makes Its First Gene Discovery
Just in case you thought crowdfunding was all about gadgets and indie movies, a volunteer project to connect kids with rare diseases to genetics researchers had its first major success story earlier this month.
Late last year, the Rare Genomics Institute raised $3,550 from 50 donors to sequence the genes of 4-year-old Maya Nieder, who has global developmental delays that were previously unexplained by genetic testing.
That money paid the way for researchers at Yale to identify a mutation in Maya’s genes that had never been documented before.
It’s likely the first crowdfunded gene discovery, said RGI founder Jimmy Lin, a physician-scientist who performed the first sequencing of a genetic disease as part of his PhD thesis. I met Lin earlier this year at the TED conference, where he is a 2012 fellow.
Was the process that led to the Maya discovery scalable, or a one-of-a-kind thing? “Our goal is to scale it so that genetic bases of all 7,000 rare diseases can be discovered,” Lin said this week.
RGI is not an open platform for crowdfunded genetics research; it carefully screens kids and matches them with researchers.
Twenty approved projects are currently in the pipeline, 10 are on the site, and out of those, three have been successfully crowdfunded. (In some cases, families opt to pay out of pocket.)
Crowdfunded donations mostly come from friends and family of the child, with only about a quarter of funding coming from strangers, Lin said.
At this point, crowdfunding has become effective enough that the biggest bottleneck in RGI’s work is securing doctors’ time to see patients and analyze results, Lin added. But he said he would like to raise funding for RGI itself to hire a staff.