There seems to be a certain buzz around rare and orphan diseases. Following the Findacure meeting I attended last month, there are two recent events I’d like to mention.
Firstly, I attended the first Cambridge Rare Disease Network summit, held in Cambridge UK, with a fantastic line-up of speakers from a range of professions to discuss current and new initiatives in rare disease. The debates ranged from the use of next generation sequencing for diagnostics, to crowd-sourcing both for science and funding, to drug repurposing, to the views of payers and the issues around pricing.
For me it was also a reminder, particularly from some of the parent speakers, of the impact that rare disease has on individuals and families. All too often we are so busy with the day-to-day of research and business that it's easy to lose sight of the ideal end-goal - treatments for all adults, all children, affected by these disparate and often devastating diseases.
Secondly, this month the FDA released new draft guidance “to navigate the difficult road to approval of drugs for rare diseases”.