Categorized | Social Entrepreneur

Innovative Startup Social Venture Provides Genome Sequencing for Patients with Rare Diseases

Jimmy Lin, an MD/PhD student at Johns Hopkins, had just returned to clinical medicine after spending four years working on cancer genetics. His lab had successfully sequenced hundreds of cancer genomes, on the theory that mapping a biological blueprint would help us understand the best way to treat a malignancy.

Now, sitting across from an inconsolable child and a confused, exhausted mother, Jimmy felt like his degree was completely useless.

“I’m so sorry,” Mrs. G. said, wiping her eyes. “I don’t know what’s wrong with him.” Little Christopher continued to wail; he was obviously in some kind of pain, as he had been since three years old. Christopher had always been a cute child, although with a slightly odd facial structure. Around his third birthday, his growth rate slowed dramatically, and he began to deteriorate neurologically. The family had taken Christopher to the premiere hospitals in the nation—Harvard, then Yale, and now Johns Hopkins—trying to find some explanation for their little boy’s ailment.

Jimmy didn’t know what to say. She was apologizing to him? “No,” he said, tentatively, “you don’t have to apologize. It’s our job to know what’s wrong, and we don’t know either.” Christopher’s symptoms suggested that he had a rare genetic disease, but an extensive workup at Hopkins failed to identify any known syndrome. Disappointed, Mrs. G. returned home, without an answer and without any way to help Christopher’s illness. Jimmy, too, was heartbroken.

He continued to think about Christopher’s problem for several months. He had spent four years sequencing cancer genomes to understand cancer better; couldn’t the same approach be used for Christopher? Christopher seemed to have a genetic illness, after all.

It wouldn’t be quite as simple as popping a vial of blood into a giant gene-reading-machine. Thanks to the Human Genome Project, scientists now know the base pairs that make up a human genome, but we have yet to fully map the function of each portion of our genetic code. Yes, Christopher and children like him would need their genes mapped, but they would also need scientists to help investigate and interpret any abnormalities. And both those steps—the sequencing and the research—would require money.

Slowly, an idea began to take shape in Jimmy’s mind.

Physicians have clever ideas all the time, but Jimmy actually began to build his into a reality. He began discussing his ideas with friends and classmates over Skype and Facebook, and slowly his team grew. Scott Taing, a researcher at the Harvard School of Public Health, himself had a family member suffering from an undiagnosed illness.“What if,” Jimmy asked him, “sequencing might help figure out what’s wrong with your [cousin]?” Scott wasn’t hard to convince.

When Jimmy explained his idea to me a few months later, I was struck by its elegance and simplicity. Jimmy envisioned an organization to link rare-disease patients and their genomes with researchers. It was the ultimate win-win proposition. Patients presented fascinating, powerful research questions for researchers—and they needed scientific insight which top-flight researchers and bioinformaticists could help to provide. Many answers would come too late to help individual children, but sequencing could lay the groundwork for future therapies.

It was an approach that had been tested on a small scale in the past. After current, less-comprehensive medical diagnostics failed to correctly diagnose a child, Yale Genetics Professor Richard Lifton used whole-genome sequencing to reach the correct diagnosis—and to suggest a dietary change that had a powerful impact. Professor Lifton’s approach was so revolutionary that he attracted media attention from Forbes Magazine. Whole-genome sequencing allowed researchers at the Medical College of Wisconsin to better understand a little boy named Nic Volker who had recurrent and devastating gastrointestinal perforations—an understanding which pointed the way, surprisingly, towards bone marrow transplantation as a treatment for his illness, saving his life. And biotechnology consultant and physician Hugh Rienhoff received attention from Nature and Wired for sequencing and researching his daughter Beatrice’s genome on his own. Even the late Steve Jobs, the CEO of Apple, sequenced his own genome and the genome of his pancreatic cancer in his search for a cure.

Jimmy’s vision was even bigger:he wanted to make sequencing technology available to all. The remaining hurdle was the economic one. Large, central institutions like the NIH and the pharmaceutical industry are poorly equipped to distribute funds to thousands of small projects. Indeed, the NIH devotes just 0.075% of its budget to rare illnesses. Genome sequencing has dropped rapidly in price, but for now it is still about $10,000 or more per genome. Many families find that prohibitive.

As Jimmy continued to use social networks like Facebook to grow his team and to build a network of interested researchers, one of his friends at a dot-com suggested that the answer might actually lie in those same social networks.

Jimmy’s friend David Lam worked at a startup called “Razoo,” which was helping to pioneer a technique called crowd-funding. Razoo’s objective was to find thousands of donors to each give small amounts of money to worthwhile projects. The key to it all was the so-called Web 2.0, using interactive social networks to grow attention and raise funds. At the time, Razoo had already funded over $15 million dollars for various non-profit organizations. Other groups like 33needs and Kickstarter were successfully using crowd-funding to help solicit funding for social entrepreneurship and art projects, respectively. “We’ve been able to do this for the arts,” David said. “This time there’s a child’s life on the line. There has to be a way to fundraise for them.”

Innovative Startup Social Venture Provides Genome Sequencing for Patients with Rare DiseasesAlmost by accident, Jimmy’s organization—we named it the Rare Genomics Institute (“RGI”)—had built itself around two of the hottest trends in science and economics. Using crowd-funding to finance whole-genome sequencing was a logical pairing, but it was possible only in the wake of the latest advances in each field. Jimmy and the rest of us at RGI had found a gap in the market by pairing eager researchers with desperate patients; cutting-edge tools in science and trends in economics would help provide the funding that the NIH could not. We found ourselves in a position to capitalize on these new tools.

When asked what his goals are, Jimmy doesn’t hesitate to identify multiple visions of success. “We want to find and identify as many of these diseases as possible,” he says immediately. “The best outcome would be to find direct benefits, and we’re seeing more and more examples where whole-genome sequencing helps provide that.” And yet the science alone will not be enough. “This technology has to be democratized and disseminated,” Jimmy continues. “We want a whole new funding stream—from the bottom-up.”

Under our current vision, parents will post their child’s story to RGI’s webpage and social networks; funding will allow us to sequence the child’s genome and forward the information to top-flight researchers. Researchers, always hungry for interesting projects, will search through the child’s genome, comparing patients’ genetic codes to those of their healthy parents and to those of other children with similar symptoms. When they find answers, or even hints of answers, they can forward them as guidance for associated physicians to use in more formal, patient-care-approved testing.

Our goal is for whole-genome sequencing to be unusual-but-routine—for sequencing to be an easily available backstop to any family who has run out of other options. We hope to make it as simple for families as possible. Much of the time, RGI’s work will be long-term in nature, paving the way for a better understanding of disease and elucidating the pathways that future research will take. But, once in a while, we will find a specific treatment for children like Christopher.

By all accounts, we are off to a promising start. Jimmy’s work with RGI recently won a prestigious TED Fellowship, and he will be speaking at the annual TED Conference, which features some of the world’s leading thinkers and doers. Past TED speakers have included Bill Gates, Al Gore, Jane Goodall, Isabel Allende and former UK Prime Minister Gordon Brown. TED reports that its fellows are handpicked as “world-changing innovators from around the globe.” This fall, Jimmy accepted a faculty position at Washington University in St. Louis, and again rare genetic diseases will play a prominent role in his work.

And yet much more remains to be done. Recruiting scientists has been the easy part. Jimmy and most of his team are trained as physicians and scientists, but relatively few of them have expertise in law and business. They had to learn how to obtain non-profit status, develop a business model, and commence fundraising. “Our core personnel is mostly scientists,” Jimmy explains, “but we’re learning fast in the other areas like marketing, fundraising, and getting media attention. For now we’ve relied on a lot of good advice, but we’re having to learn a lot of it ourselves.”

Innovative Startup Social Venture Provides Genome Sequencing for Patients with Rare DiseasesDespite those obstacles, RGI is building its pipeline steadily and has already begun fundraising. Its website already contains some of the powerful stories of its demographic. “This is the stuff we love talking about,” Jimmy says. “This is what we want RGI to emphasize.” Robert, for example, was a normal child until shortly after his birthday, when he suffered a completely-unexplained deterioration in his mobility and speech. To this day, he is in a wheelchair and fed through a tube—and undiagnosed. “One day,” his parents write, “science and medicine will catch up to our son, and we want to be ready.”

Maya presented a similar story. Her parents call her“a silly, cuddly three and a half year old girl,” and note that “like others her age, she loves to read books, paint, and play with her dog.” She is also developmentally delayed, and nobody knows why. She cannot speak, run, or climb stairs. While all of her physicians agree that “something genetic” is at play, every test thus far has come back negative—from brain MRIs to FISH and microarray gene testing, every test thus far has come back normal. Current genetic testing is scattershot, testing only the genes which are known to correlate with specific medical conditions. But in cases of rare or mysterious illnesses, scattershot testing will be unrevealing, and Jimmy’s vision of whole-exome sequencing becomes a family’s last alternative.

After meeting with an RGI-partnered physician at Yale, Maya’s parents opted to go forward with whole-exome sequencing. Exons are the active part of our DNA, and accordingly the vast majority of genetic diseases will be found in our exons; sequencing the entire exome remains much, much cheaper than sequencing the entire genome.

We and Maya’s parents launched her fundraising campaign on December 6, 2011, hoping to make steady progress towards raising the funds for her whole-exome sequencing. But even we were stunned at the rapidity of Maya’s progress. Jimmy and Maya’s parents were refreshing their browsers constantly to watch as funds streamed in, and Maya’s campaign finished in a shocking six hours. Importantly, Maya’s funds came in exactly as Jimmy and RGI had envisioned them: as numerous small donations from a wide variety of donors, with more than fifty donors giving an average of $66 over that initial burst. As funds continued to flow in, Maya’s parents graciously agreed to let excess funds go towards fundraising for other children.

It was a valuable first step for Maya on her road to a diagnosis. And it was a powerful demonstration of Jimmy’s vision for RGI. Each of these children remains a medical mystery. If we at RGI have our way, they won’t have to remain that way for much longer.

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