Industrializing rare disease therapy discovery and development

  • Sean Ekins
  • Nature Biotechnology, February 2017, Springer Science + Business Media
  • DOI: 10.1038/nbt.3787

Economies of scale for rare disease R&D

What is it about?

This small correspondence throws out the idea of what if we could find economies of scale for rare disease R&D then perhaps we could tackle many more of these 7000 diseases.

Why is it important?

It describes how a rare disease gene therapy was brought to clinical trials for several million dollars and how Small business grants from the NIH can also be used for ultra rare diseases. The return on investment may not only be the FDA priority review voucher but the ability to show that treatments for diseases can be developed cost effectively. Providing a model that can be used elsewhere. Perhaps most important, it may offer hope to rare disease families that developing treatments may not be out of reach.


Dr Sean Ekins
Collaborations in Chemistry

Well this started out with a back and forth discussion with Lori Sames who raised the funding for the Giant Axonal Neuropathy gene therapy. Also collaborations with Jill Wood (Sanfilippo syndrome) and Allison Moore (CMT) were instrumental rare disease parents that over 5 years have influenced my thoughts on this topic. I sat down and wrote a first draft in a few hours, my wife threw it back at me with some feedback and then I took a second go and that's pretty much what remains. The journal omitted a figure I had submitted now included here.

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