This past September, at a conference hosted by the Genetic Alliance, I met the physicians who had treated a small child named “N.” N had a nearly-unheard-of condition in which bacteria could invade his body through micro-pores in his skin. He suffered from nearly constant infections and often battled life-threatening bloodstream infections known as “sepsis.” His team of scientists and physicians chose to attempt a new approach to better understand his disease: whole-genome sequencing. Conventional genetic testing, as seen in most diagnoses, relies on a scattershot examination of several common mutations. Looking at N’s entire genome, however, helped his physicians realize that a bone marrow transplant might help treat the underlying cause of his problems. The procedure saved his life, and he is now a healthy child.
As I heard about N’s story, I couldn’t help but think of “M,” a three-year-old girl who also suffers from a mysterious illness. M and her parents were working with my team at the newly-founded Rare Genomics Institute, a biotechnology startup designed to help bring genome sequencing to children suffering from rare illnesses. It is our hope and belief that sequencing will help scientists better understand rare genetic diseases, which will in turn help children like M. Last June, a group of friends and I founded RGI to help bring together two trends that can make that possible: whole genome sequencing and microphilanthropy.
Every day, children like M are born with syndromes that are rare and poorly understood. Many of those children remain undiagnosed for their entire lives, and only one in five of them live to adulthood. Precise estimates are hard to come by, but approximately 250 million individuals are afflicted by rare disorders worldwide, with 20 million individuals in the United States alone. It is hard for central institutions like the National Institutes of Health to fund research that pulls in such varied directions, but we created RGI because we believe that a private institution can help fill that role by capitalizing on two recent innovations: one in economics and one in science.
On one side, scientists have been perfecting sequencing technologies that offer unprecedented insight into a patient’s genome. Such technologies are crucial in offering accurate genetic diagnosis, which points the way to understanding and treating previously mysterious ailments. As these tests have continued to advance, they have also becoming cheaper and cheaper, now running as low as $3,500 for trios (child and two close relatives). This test was once available only to the ultra-wealthy — Steve Jobs sequenced his genome hoping to find a way to fight his cancer — but is rapidly become more and more available. To many families, however, even $3,500 can seem prohibitive.
That opened the window for another innovation: microphilanthropy. As startups like 33needs.com have demonstrated, even small donations can make a large difference when benefactors work together towards a common goal. Microphilanthropy, or “crowd-funding,” has been facilitated by the rapid rise of Web 2.0 applications, which allow Internet users to create their own communities and build their own networks. Crowd-funding doesn’t just enable large projects to fundraise — it allows donors to continue to participate and to take ownership in projects as they grow.
Our journey at RGI began with a seemingly simple idea: That families afflicted by rare genetic disorders should have access to genome sequencing technologies and expert analysis. We saw a pressing need to create an institute that can connect families searching for answers with geneticists and scientists across the globe who can help them gain access to the best information science can offer. We recognize that families afflicted with rare diseases are under financial strain and we believe that microphilanthropy can give access to otherwise unreachable goals.
RGI has been a new and daring challenge for our team — one that sometimes seems bigger than us, because it is. Our team relished the challenge and adventure of building something new from the ground-up, but none of us could have imagined how quickly things would take off. In fact, as with most start-up endeavors, we couldn’t predict whether our first try would be successful at all. We still don’t know for certain what the future holds.
But we do know that on Dec. 6, we launched M’s fundraising campaign, hoping to make steady progress over the first few weeks.
We finished on Dec. 6.
In a stunning six hours, 50 donors giving an average of $66 demonstrated the potential of crowd-funding. We exceeded our research goal by nearly a third, with excess funds helping other children’s campaigns. Spurred on by word of mouth — M’s mother keeps a very well-written blog — M’s fundraising campaign literally outpaced the speed at which our browsers could refresh. Thanks to our donors, M has taken a powerful step towards new insights into her illness and possibly treatments for her symptoms.
We believe that she has also played a larger role — that she has demonstrated the viability of crowd-funding as a means of financing whole-genome sequencing. Sequencing, in turn, can make a difference in the lives of thousands or millions of children suffering from rare diseases across the world.
My teammates and I at RGI feel blessed to be along for the ride.
Naira Rezende is a sixth-year Ph.D. candidate at Weill Cornell Medical College. She may be reached at [email protected]. What’s Up, Doc? appears alternate Fridays this semester.
Original Author: Naira Rezende