Decoding DNA for Rare Diseases

Battles against diseases from polio to malaria rage across cities, countries and even continents. Today, however, the war is being waged on battlefields as small as a human gene.
Yet scientists who study rare genetic diseases -- the approximately 7,000 "orphan" genetic disorders ranging from cystic fibrosis to mutations that affect just a few people across the globe -- are themselves a rare breed. Despite $3 billion in funding from the National Institute of Health (about 10 percent of the Institutes' expenditures), few genetic diseases get much attention, and only five percent have effective treatments.
Solving this problem is the mission of the Rare Genomics Institute (RGI), a non-profit research group founded by Jimmy Lin, a physician and computational geneticist at Washington University in St. Louis, Miss. RGI is inverting the top down nature of medical research by allowing patients to crowdfund their own research on the RGI website, and prime the pipeline for rare disease research. Volunteers at a consortium of 18 universities analyze RGI's patients' DNA for genetic aberrations potentially behind their disorders, screen possible treatments, and expand inquiry into ignored areas of medical science.
RGI claimed its first success in 2012 after researchers at Yale University decoded the DNA of four-year-old Maya Nieder, who suffers from severe developmental delays, identifying what appears to be a faulty fetal development gene. Even more promising, however, Rare Genomics' platform is allowing patients to direct -- and even fund -- new discoveries into any disease. "We hope we're able to democratize science and create a method to address these rare diseases from the bottom up," says Lin. "Our goal is to prove a platform where any patient community can fund any research of any disease."
RGI's success has depended in large part on the plunging price of genetic sequencing and data analysis. In the 1990s, the Human Genome Project spent years and $3 billion to sequence the human genome. Today, RGI achieves the same feat for $2,500 in a matter of days, while a $100 genome ready in a matter of hours is now on the horizon. Meanwhile, sophisticated algorithms -- the Big Data techniques that were discussed at the Big Science Summit -- to sift through the human genome, as well as an ever larger store of genetic data spanning the human race, have let researchers tackle the long tail of disease, one person at a time.
But Rare Genomics remains an experiment of its own, with no guarantee of success. A year and a half after opening its doors, RGI has raised about $650,000, and is still searching for a sustainable revenue model to support its activities beyond the 20 or so patients already enrolled.
If successful, Lin believes, RGI will open up new ways for science to solve the problems of more than just the masses. "If we can get the math to work and change the public sentiment about what can be done by individual research," says Lin, "[RGI's model] could be a huge force."

Source:
http://www.theatlantic.com/sponsored/boeing-big-science/archive/2012/11/decoding-dna-for-rare-diseases/265478/

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