Yalies want you to help fight rare genetic diseases.
The Rare Genomics Instituteaims to give children with rare, or “orphan,” genetic diseases access to the funds and expertise needed to sequence their genomes, which can help them get a diagnosis and treatment. The project uses social media to find donors for patients whose diseases receive relatively little attention from major research institutions. Jimmy Lin ’01, who founded the organization earlier this year, won a TED Fellowship for his work on Tuesday, which he hopes will attract attention and contributors to the project.
RGI finds children who remain undiagnosed after having undergone conventional tests and who may benefit from genome sequencing, Lin said. The institute creates an online profile for patients and promotes them on social media sites such as Facebook and Twitter, Lin said.
“There’s a gap in the market,” said Mike Lee LAW ’11, RGI’s director of communications. “It would be great if this [approach] became one of the dominant research models over the next 100 or 200years.”
While the staff waits for donations from the online “crowd,” Lin builds a network of researchers and clinicians to analyze the genome once funds are secured online. Because RGIuses private funds, it can study uncommon diseases that are not the priority of public research institutions such as the National Institutes of Health, said Conrad Gilliam, professor of human genetics at the University of Chicago.
“There are thousands of rare disorders, and if you multiply that by the cost of research, the NIH would go broke,” Gilliam said.
Although the NIH has an Office of Rare Diseases, said Wayne Grody, professor of human genetics at the University of California at Los Angeles, the amount of money given to study rare diseases is “dwarfed” by the amount given to study major diseases. Likewise, drug companies do not invest heavily in “orphan drugs,” he added, because they expect a greater return from investment in treatments for common ailments such as heart disease or diabetes.
Because genomics is a young science, the price of sequencing one’s whole genome ranges from $6,000 to $14,000, Grody said. But “next-gen” sequencing technology, Gilliam said, may reduce the cost of sequencing a whole genome to below $1,000 within a year or two.
Difficulties will persist in spite of these improvements, Lee said. The real challenge for scientists begins after they successfully sequence a patient’s DNA, according to Lee, who is a doctor of medicine candidate at the University of Washington.
“What you get when you sequence the genome is billions and billions and billions of these four letters,” Lee said. “The question is, what does any of it mean? That’s the next project scientists are working on.”
Since RGI’s patients have unknown disorders, clinicians cannot use the current, patchy map of the human genome to give them diagnoses, Lee said. Clinicians must instead use cutting-edge genomics techniques, which require that a patient’s entire genome be sequenced, a costlier process than the partial sequencing that can screen for known genetic diseases.
These techniques are all “very complicated and difficult,” according to Grody, who runs a genomics lab at UCLA. Two of the most common methods are to compare whole genomes of two or more rare-disease patients, and to compare patients’ whole genomes with those of their apparently healthy parents, Grody said.
RGI’s network, which is a small community of 20-30 scientists, will accumulate information that is valuable to scientists who would not otherwise encounter that data, Gilliam said.
“Scientists spend a lot of time in the lab developing things, so they don’t necessarily have the time to meet patients and get blood samples,” Gilliam said. “This [organization] could provide them with that opportunity.”
Appealing to the nonscientific community for support is essential to RGI’s crowdfunding strategy, which uses social media to ask a large number of potential donors each to make small contributions toward a specific cause. Several other online startups, such as 33needs and Kickstarter — for social entrepreneurship and artistic endeavors, respectively — have used crowdfunding to fund ventures from small businesses to short films.
Lin said that his organization, after six months of planning and staff recruitment, is off to a fast start. RGI put its first three profiles online on Oct. 18, and each has raised over $200 in donations. Lin and his staff expect to expand from five social networking sites to nine or 10by the end of the year.
On Tuesday, Lin was named a 2012 TED Fellow, an award that comes with a free invitation to TED’s annual conference in Long Beach, Calif. Each of the 25 fellows is offered a place on the conference stage to give his own TED Talk, as well as one-on-one coaching from TED advisors and international media attention throughout 2012.
“Because Rare Genomics is based on a crowdfunding model, the more people who are exposed to it, the more people can give and support,” Lin said. “This exposure hopefully will turn into help for our children.”
The human genome was first sequenced in 2001 by the combined efforts of the Human Genome Project, sponsored by countries including the United States, the United Kingdom, Japan, France, Germany, and private researchers.