Rare disease funding disparity

Day 2 of the NIH rare disease day did not disappoint. Lets just say it was all about the numbers. My extensive tweets can be found with the hashtag #RDD@NIH.

John Gallin from the NIH clinical center has 1255 physicians, 240 beds and studies 463 rare diseases.

Danilo Tagle from NCATS described their lab on a chip work and their investment of $70M over 5 years along with DARPA investing $75M over 5 years.

Barry Pallotta from DARPA mentioned why they are working on lab on a chip and drug mode of action analysis due to biological threat counter measures.

Naba Bora from CDMRP – since 1992 they have provided over 10,000 grants. Since 2007 they have funded ALS research to the tune of $32M DMD has had $7M since 2011, a bone marrow failure project has had $15M. Neurofibramatosis has had $200M in funding.  Tuberous Sclerosis has had over $200M since 1996. One had to ask why the disparity and what have we got to show for it? I did actually ask that question and the answer was not fulfilling.

Sharon Terry from the Genetic Alliance described their work on registries for all (Reg4ALL). They have over 13,000 disease pages,  and gamified surveys. They had a hard time getting funding conventionally and so far just have $300K from Sanofi. Also of interest Sharon mentioned repurposing via blogs for a rare disease but did not elaborate further ( I for one want to know more).

Then it was time for talk of the sequestration. It was mentioned one scientist at CDER would lose 5FTEs Which would impact the orphan product program.

John McKew from NCATS mentioned they have over 300 collaborations with investigators around the world. 15 projects are going under the TRND program. 4 INDs have been taken to the clinic.  A Niemann-Pick type C project was described.  Another was hereditary inclusion body myopathy (gene ID in 2001, 2007 NIH patent, IND, IRB, natural history study in 2011, clinical studies in 2012).

Janine Lewis from GARD described their webpages on The office of rare diseases. They cover over 6000 diseases, provided 1400 answers.  Later colleague mentioned 38,00o questions answered covering 5000 diseases , 10-30 queries a day and more than a third of users are friends and family.

Not wanting to be a thorn in the side of anyone in particular, but why oh why does one rare disease get $200M and there are literally thousands of diseases with nothing. Of course this probably pails in significance to the billions of dollars that have gone into HIV/AIDS and not to forget the enormous number of billions that have gone into cancer research. Something has to be done to change this disparity, surely all diseases are worthy of support. How are the funding decisions made and what do we have to show for the money spent so far by these government agencies? Has most of it gone to the academic labs as overhead? No one was talking about that or attempts to change the way they fund studies, or for that matter any ways to disrupt drug discovery. Lab on a chip does not do it for me and of course there was no mention of computational approaches. Come on DARPA get with the 21st century? So much is going on but so few rare diseases will be impacted any time soon…oh and so much will be spent. Time for disruption.





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  1. sean says:

    Updated to add Sanofi funding for Reg4ALL. Previously I erroneously had NIH.

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