Rare Disease Day, Common Focus

March 1, 2012 | In honor of "Rare Disease Day" yesterday, rare diseases garnered quite a bit of attention. At a TED talk this week, Jimmy Lin, a researcher at Washington University in St. Louis, discussed his Rare Genomics Intitute, a "Kickstarter" for genomics. The Institute connects patients with rare diseases with research institutions willing to take their cases. The funding comes from family, friends, and online supporters who donate small (or large) amounts based on patient pictures and profiles. As the cost of sequencing goes down, Lin believes that this model could be an effective research model. Mashable

Washington University in St. Louis, Lin's home institution, is also getting in on the act. Wash U has launched the Rare99x Clinical Exome Challenge, offering to diagnose the DNA of 99 patients with rare diseases for free. The patients’ DNA will be sequenced at the university’s Genomics and Pathology Services. Wash U News Room

Separately, scientists at the Clinic for Special Children in Strasburg, Pennsylvania, might have a model for personalized medicine in their work on rare, inherited diseases within the Amish and Mennonite communities. They've found a way to use the basic tools of genomics in the clinic to treat children quickly and effectively, partly by combined clinical and laboratory facilities and close relationships with their communities. Nature