As a medical student at Johns Hopkins University, Jimmy Lin worked on a case involving a 5-year-old whose development was suddenly stunted and who experienced unexplained and uncontrollable bouts of pain. His parents brought him to the best doctors at Harvard University, the Mayo Clinic, and other top medical centers. “It broke my heart seeing the parents’ faces drop when we told them it was most likely a rare genetic condition,” Lin says, sitting in a St. Louis coffee shop near the Washington University School of Medicine, where he now works as a genomics researcher. “I remember them walking down the hallway and wondering where they would go next.”
Mainstream medicine hasn’t focused its resources on the 7,000 rare diseases that have baffled doctors for decades and afflict a combined 350 million people worldwide. “There are millions of kids wandering from place to place that no one is really helping,” says Lin. He believes answers may lie in their genes. To find out, he and more than a dozen other young scientists and researchers created the Rare Genomics Institute, a nonprofit that leverages falling DNA sequencing costs and rising online giving to support medical research. On the institute’s website, children with mysterious illnesses can solicit the $7,500 needed to sequence their genes and their parents’ in search of new therapies.
Photograph by Daniel Shea for Bloomberg Businessweek
In mid-July, the institute announced that it had completed its first crowdfunded gene sequencing and discovered what it believes is the root cause afflicting 4-year-old Bronx resident Maya Nieder. The girl can’t speak, and doctors are unsure whether she can hear. They had likewise failed to determine why she has missed so many developmental milestones. Lin’s team posted Nieder’s story online, and within hours donors had given the $3,500 needed to sequence key slices of the Nieder family’s DNA. (Yale University covered the rest of the costs.) The results, RGI says, point to a flaw in a gene crucial to fetal development.
The institute carefully chooses the patients it spotlights online. Twenty of the roughly 100 applicants from the past year have been accepted. To appear on the RGI website, they must prove they have endured a battery of traditional tests and consulted with a range of doctors to no avail. Joaking, the young son of a Chilean miner, is among those currently up on the site. His ability to move rapidly deteriorated in the past year. “Joaking was a normal child until age 3, playing, jumping, climbing ladders, running,” his father’s testimonial recounts. “At age 4 my son cannot even scratch my face anymore….” Family-organized bingo contests raised more than $2,000 to help fund Joaking’s tests.
In the last few years, a handful of wealthy individuals have paid for genetic tests for their children, even funded clinical trials around potential therapies for their conditions. “If you have money and connections and business acumen, you can get this done,” Lin says. “We want to make this available and easier for everyone.” The institute’s model, he says, will be to crowdfund such trials in pieces. Once they prove they’ve identified the correct genetic mutation by creating a mouse or worm with the same one, RGI will seek financial support for treatment experiments.
All their effort, Lin concedes, may yield only tentative results, but could at least offer researchers and parents the beginning of an answer. And given the destructive power of these rare diseases, he believes some will yield major discoveries about the broader human genome. “It’s the right moment in terms of where genomics is and where social media and online giving is,” he says. “It’s the first time in history that this is possible.”