NIH Rare Disease Day – Need for Braver New World

After a day at the NIH rare disease day full of very text heavy slides and hearing some of the same things from previous meetings, perhaps it’s time for something different. Many in the audience were probably parent or patient advocates as far as I could tell. I have no idea if they were satisfied with what they saw and heard. I for one was not..but what does my opinion matter.

Those that stayed till the end of the day got to see a documentary about the Hempel Family and their attempts to find a cure for their daughters with Niemann-Pick type C. Something grabbed my attention and it was the pictures of advocates from the 80’s when ACT-UP chained themselves to the gates of the FDA. To me the advocates then were different, they were only fighting for their life. They did not have to do what today’s Patient advocate almost by necessity needs to do. Take the Hempels. They fund raised, they connected with researchers, they studied the science, organized the clinical trials, formed a company ..an on and on..All the parent advocates I have met are following a similar trajectory. If the thousands of Rare disease advocates had any time left to chain themselves to the fence of the FDA, NIH or the drug companies (which by the way I am not suggesting they do) I would be very surprised, let alone have time to make quilts.

Perhaps instead of there being so many groups working in an uncoordinated fashion on patient registries etc, there needs to be some organization of all the rare disease organizations. There needs to be a demand for action. Is it really fair now that for biotech VC funding for rare diseases these parents are expected to raise the money. Is it fair that they have to start their own companies because no one else will take a compound to the clinic? Yes these parents and patients are doing it out of necessity.

Today I did not see any evidence of how the gap between finding genes for a disease, then finding compounds for a target, followed by getting compounds into the clinic was shorter? Should it take 5 years, 1 year or 6 months. Think again, how about 20 years from gene identification to high throughput screen hits. All I know is the amount of data we have created through all the high throughput screening and genomics work should be sufficient to have an impact, but is it accessible to the people that need it in a way they can mine it?

Efforts for speeding up the drug discovery process are needed, and that may need outsiders who are unafraid of exploring braver new worlds that are rare diseases.

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