I read with interest the essay by Daniela Gerson ’00 on finding information about her rare disease and discovering an online community of others who are living with it (“Meeting My Illness,” Alumni P.O.V., Nov-ember/December). I have recently begun working with a nonprofit organization, the National Disease Research Interchange (NDRI), that works with organ-procurement organizations to provide human tissue samples for research. Earlier this month Genzyme donated $250,000 over five years to NDRI to fund a new Rare Disease Biomaterials Resource that will supply tissue, donor DNA, and cell lines to investigators studying 6,000 rare or “orphan diseases” in the United States—diseases that each affect fewer than 200,000 Americans but that cumulatively afflict millions.
I was surprised to learn that the need for human tissue is as urgent as the need for stem cell lines, and that, when having a biopsy or other procedure, one can donate this valuable resource that would otherwise be discarded. While we’ve all heard of some relevant rare diseases—Lou Gehrig’s disease, muscular dystrophy, lupus—others, like PKD (which Gerson writes about), are less familiar. Fortunately, there are organizations such as NDRI (www.ndriresource.org) dedicated to promoting progress across many rare diseases. It is NDRI’s hope that with expanded use of the Internet donors, scientists, and patients will all find one another in short order.
Denise Rosin Portner ’80