How One Boy's Mystery Disease Could Hold the Key to Solving Our Biggest Health Threats

Originally posted on Wired

2011, Jimmy Lin was working at Johns Hopkins University mapping the genetic mutations linked to cancer when he met a child who would change the course of his career. The boy was wheelchair-bound, afflicted with a rare disease that had withered away his muscle control. His parents came to the university seeking insight into his mysterious condition, but it was so rare that Lin and his colleagues had to tell them there was no viable test available yet to diagnose it.

For Lin, this was a turning point. “We thought, wait, can we do the same things we do to map cancer genomes, to also map rare genomes?” he recalls. “That’s when we decided to take all the newest technologies from cancer [genomics] and think about how they could be applied to rare diseases.”

This became the catalyst for the Rare Genomics Institute (RGI), a non-profit biotech company that Lin founded with colleagues from Harvard and Yale in 2011, to directly connect people suffering from rare and undiagnosed diseases with practitioners of cutting-edge genomics research.

Since its inception, more than 400 rare-disease patients have used the Institute to seek diagnoses and treatment from its expansive network of doctors and researchers. RGI’s inbuilt crowdfunding platform has also helped fund bespoke research projects into a number of rare genetic disorders, such as the neuromuscular Dystonia disease.

“We have patients who have started new cell lines and new research all across Canada and the US,” says Lin, who also “wears a second hat” now in his primary job as the chief scientific officer for oncology at Natera. Today, Lin’s Rare Genomics Institute is a successful example of a project that bridges the gap between academia and social entrepreneurship.

While social entrepreneurship — a field that tackles social problems with real-world, applicable solutions — used to be the exclusive turf of traditional start-up companies and entrepreneurs, now scientists are moving into this arena as they recognise the huge potential impacts of their research. It’s a growing trend, especially in places like Silicon Valley where researchers are easily connected with industries, companies, and investors.

Several universities in the Valley now have dedicated centres for this—like Santa Clara University’s Miller Center for Social Entrepreneurship, or Stanford’s Center for Social Innovation. Others like Duke University’s Social Entrepreneurship Accelerator leverage innovation in global health research. And with the backing of organisations like the National Science Foundation’s Innovation Corp — which encourages its grantees to find applications for their research beyond the lab — the role of academics in this field is bound to expand.

“To any academic, the question of whether to focus on the theoretical or spend time applying what they’ve learnt in a real-world context, is a constant battle,” says Mark Clayton Hand, who researches social entrepreneurship at the Lyndon B. Johnson School of Public Affairs, University of Texas at Austin. “The structure of [academic] institutions incentivises people to continue to research and publish. So those academics that step out of that incentive structure deserve a lot of credit, I think.”

In Lin’s case, his foray into social entrepreneurship was motivated by the realisation that he and other researchers were in a position to help plug a significant medical gap. “Initially there were very few, if any, commercial offerings of genome sequencing for rare diseases,” Lin says. “So we were working with research institutions to set up new methods to help these children.”

Now, four years on, the RGI has a raft of go-to researchers at esteemed institutions including the Mayo Clinic and Scripps Research Institute, and it has built up a vast repository of patient data. It’s led to several successes — like the case of Harrison Snow, a boy with an undiagnosed muscular disorder that undermined his ability to talk, swallow, and even breathe. In 2015, RGI connected Snow’s family with researchers at Scripps who diagnosed him with an exceptionally rare subtype of the congenital Myasthenic Syndrome. This allowed them to put give him a tailored treatment that has since enabled him to speak, swallow, and breathe more freely, which would not have been possible without the initial diagnosis. “What we do is so multifaceted, because the needs of every patient are so different,” Lin says.

Elsewhere, scientists are pooling their expertise into companies that are channelling research directly into the development of new treatments and therapies—like San Francisco-based neuroscience company Alector. Its band of researchers are currently developing new treatments for neurodegenerative diseases like Alzheimer’s that they’ll be testing in clinical trials in under two years.

Clearly, social entrepreneurship in science is now in vogue. But could it also be nudging academics into a realm they’re not suited to? “If we push academics too hard to be practical, then the part of their work which is really important—which is asking questions—may get lost in that,” Hand says. But if social entrepreneurship is carried out in the scientific tradition, in which trial-and-error is the main approach, he believes science can continue to make its impact in this field.

“I view entrepreneurs as constantly attempting to build hypotheses and then test them. Actually, that lines up really well with the way that academics operate.”