If you haven't seen this article in C&EN about the targets presented by Orphan diseases, then you should add it to your reading list.  Some of the amazing statistics presented include that many of these diseases involve an average of 8 physician visits before diagnosis and an average of 3 misdiagnoses before finally hitting on the correct identification of the disease.  These numbers are incredibly frustrating given the visions that came with the sequencing of the human genome.

The article does a fabulous job of capturing the three elements.  First, the urgency that the patients, parents, and advocates bring to the discussion.  There's also the discussion of the challenges faced by the companies trying to address these diseases.  Finally, how do the regulators address the diseases in terms of identifying what constitutes an effective treatment for such small populations.

What the article highlights to me are the challenges facing personalized medicine.  The very real hurdles and challenges being addressed in developing treatments for Orphan diseases will serve as the model for bringing personalized medicine to reality.