The NIH and European Commission have kicked off an ambitious initiative to called the International Rare Disease Consortium to develop a diagnostic tool for every known rare disease by 2020. They also want to target developing new therapies for 200 of them in this time span.
There are about 7000 rare diseases (diseases effecting less than 200,000 patients in US) that have been described. Coincidentally, perhaps, GSK announced in October of last year that its new rare disease unit would also be looking for treatments to 200 diseases. See here.
The rare disease area is certainly heating up now. In addition to GSK mentioned above, both Pfizer and Sanofi have announced increase efforts in seeking treatments to rare diseases - with Pfizer starting an orphan and rare disease unit, and Sanofi acquiring Genzyme's rare disease franchise among other efforts.
The FDA also established a web site with a database of rare disease information as it kicked off an intitiative to provide more support in rare disease research. It would seem to me that the availability of the human genome sequence would aid this effort (Max Planck actually reported finding Mabry's Syndrome mutations in September using data of this sort). And, the NIH's new effort in translational medicine would also seem to me to be a fit in chasing down some of those 200 disease targets.
Posted by Bruce Lehr April 6th 2011.