Researchers Tackle Orphan Genetic Disorders

With Patient Powered, Crowd-Funded Science

Dr. Jimmy Lin has never forgotten one little boy he saw when he began his medical training in pediatrics at Johns Hopkins. The child was 5, developmentally delayed and suffering from inexplicable bouts of agonizing pain. His parents had taken him to top doctors all over the country. Despite test after test, none of them could identify what was wrong. The image of the parents pushing their son's wheelchair down the hall as they walked away remains burned into his memory.

"It was heartbreaking," he recalled, wondering where that family would go next. Dr. Lin had been doing cancer research, and he still does, but he was haunted by families struggling with so many other diseases no one was working on. With all the extraordinary medical advances, resources and sophisticated technology available today, he thought, there has to be a way to help such families. That personal perspective and the recognition of a gaping unmet need led Dr. Lin, a physician, computational geneticist and former faculty member at Washington University in St. Louis, to found the Rare Genomics Institute. It's an unusual organization he hopes will be a catalyst for treatments and cures of rare diseases, and it may also inspire new business models in the life sciences.

Dr. Lin says there are 7,000 rare diseases afflicting some 30 million Americans and 250 million people world-wide, and many are genetically based. "The ultimate dream is that we'd like to see cures for all these diseases," he said in a phone conversation. "The intermediate dream is that we can have research projects created and study all these rare diseases so they are on a path to therapy or cure. We don't want to see loving parents trying to find cures no one is looking for."

The RGI team began with Dr. Lin's appeal to friends and friends of friends who were interested in genetic research and excited about seeing it have impact. "We posted the idea on Facebook, saying I've got this problem to solve," Dr. Lin said. "A lot of scientific researchers don't get to see the results of what they are working on, so this is very attractive to scientists. It appeals to their humanity. I myself have been amazed at how many people-from all over the world-have come aboard." See the RGI team here. Dr. Lin says all the RGI scientists are unpaid volunteers. The organization itself runs on less than $10,000 a year, he says, but produces nearly $1 million a year worth of research because so much of the work is pro bono. See news stories on RGI's work and the children helped here.

The cost of DNA sequencing has dropped dramatically, but is still beyond the means of most families. Dr. Lin spoke with his friend David Lam, who worked at Razoo, one of the largest social networking sites for philanthropy, and they came up with ideas to help patients crowdsource funding for their own genetic research. Volunteers at a consortium of 18 universities analyze RGI patients' DNA looking for abnormalities that potentially cause their disorders. As reported by TED, Dr. Lin tells the story of Maya, a 4-year-old with severe developmental delays. Within six hours of a posting on the RGI site, people from all over the country had contributed small amounts adding up to $3,500, the cost of sequencing Maya's genome and those of her parents. Researchers at Yale then discovered a previously unknown mutation in a gene active in fetal development, and it may be the first crowd-sourced genetic discovery. "People are still working on a treatment for Maya," he told Plexus. "There are only a handful of cases where there would be an immediate cure, and those are amazing. The normal process of discovery is to understand a gene, understand what it does, then figure out if there is a drug that can treat the problem it causes." That can take lifetimes, he adds, but discoveries about genes begins the processes that can lead to treatments.

"We see ourselves as jetpacks for parents," he said. "We make it a little easier for them to connect with the right doctors, to leverage resources." Crowdsourcing funds fosters the democratization of science, in his view, and RGI provides a platform where patient communities can fund research for any disease. Rare diseases are a long tail problem, Dr. Lin says, and that means a bottom up approach with patients and scientists making discoveries is the most workable.

Dr. Lin points out many diseases, such a muscular dystrophy have been identified as genetic, yet not all who have those diseases have the genes known to cause them. More needs to be learned about genes. "We're starting to see more and more that there's not a one to one match of disease to gene," he says. "Often you're dealing with a group of diseases, or many gene mutations. A disease can have a specific label, but many different causes-it may present as one disease but really be a different disease. We can help with that if we can see potentially there is another underlying cause."

Read a Salon story, and a story in Forbes. Other news coverage appears in Bloomberg Businessweek and TIME. To join a PlexusCall from 1-2 PM ET February 28 with Dr. Lin and Trish Silber, president of Aliniad Consulting Partners, see announcement and click on the link below.

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Some 7,000 rare genetic diseases afflict about 30 million Americans and 250 million people world wide. Dr. Jimmy Lin, physician, computational geneticist, and oncology researcher, thought there had to be a way to help families struggling to find treatments for children with unusual and poorly understood conditions. Many families are finding a way through Dr. Lin's creative uses of high technology, crowd-funding, and help from friends and colleagues in science, medicine and academia.

Jimmy Lin, MD, PhD, MHS, is a 2012 TED Fellow and Founder & President of Rare Genomics Institute, the world's first platform to enable communities to leverage cutting-edge biotechnology to advance understanding of rare diseases. Partnering with top medical institutions, such as Harvard, Yale, Johns Hopkins, and Stanford, RGI helps custom design personalized research projects for diseases so rare that no organization exists to help. Previously, Dr. Lin was a medical school faculty member at the Washington University in St. Louis and, while at Johns Hopkins, led the computational analysis of the first ever exome sequencing studies for any human disease. He has numerous publications in Science, Nature Genetics, Nature Biotechnology, and Cell and has been featured in Forbes, Bloomberg Businessweek, Wall Street Journal, Washington Post, BBC, TIME, CNN, and the Huffington Post.

Trish Silber is president of Aliniad Consulting Partners, Inc., a Washington D.C.-based consulting firm focused on strategy, leadership, and organizational change. Her expertise is in executive coaching and in leading system-wide strategy and change efforts from a complexity perspective. She has over 25 years of experience consulting to businesses, government and non-profits. Trish earned an MBA from Santa Clara University and a BA in behavioral psychology from Connecticut College. She served on the faculty of the George Washington University graduate program on leadership coaching from 2001 to 2006. Trish is a former board member for Plexus Institute and currently serves on the board of the National Environmental Education Foundation and on the Advisory Council of The Leadership Sanctuary. She is a TED Fellow coach and participated in the 2012 and 2013 SupporTED Collaboratoria.

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Physicians sometimes wonder, "Why don't my patients follow the instructions I give them?" Patients sometimes wonder why their physician can't just give them a quick treatment that will make them well. But chronic disease is the epidemic of our times, and usually requires lifetime management. Much of that management must be done by the patient, who will need to find a way to fit medical and lab appointments, exercise, medications and dietary changes, into a life already busy with family and work.

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