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Industrializing rare disease therapy discovery and development

Nature Biotechnology volume 35, pages 117–118 (2017)Cite this article

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To the Editor:

If it were possible to develop a treatment for a disease for a few million dollars or less, the implications would be far-reaching. There are over 7,000 rare diseases, ∼75% of which affect children, and only 340 of these disorders currently have treatments. Research for rare diseases has therefore been termed an example of a long-tailed problem1 in which traditional research has focused on the 20% of genetic conditions (accounting for 80% of all diseases), but at the same time neglecting the other 80% of genetic conditions representing the remaining 20% of all diseases (rare diseases)2,3. The irony here is that rare diseases could potentially be readily treated by replacing, for example, the gene or protein, or stabilizing protein folding. Many rare diseases also have very small numbers of patients (in the low tens or fewer and can be considered ultra-rare), so the cost of clinical trials would be a fraction of the cost of much bigger more common diseases. Here, based on an analysis of two recent development programs for rare diseases, I propose the creation of a national center that would centralize expertise and resources for rare diseases, galvanize the production of new therapies, and synergize with current commercial efforts focused on creating treatments for a single rare disease.

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Acknowledgements

I acknowledge extensive discussions with the rare disease parents and foundations led by L. Sames, A. Moore and J. Wood, and from discussions with researchers P. Dickson, T.-F. Chou, and C. Heldermon. The Sanfilippo type D enzyme replacement study is funded by NIH NINDS 2R42NS089061-02.

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Authors and Affiliations

  1. Sean Ekins is at Collaborations Pharmaceuticals, Inc., Fuquay Varina, North Carolina, USA; Phoenix Nest, Brooklyn, New York, USA; and Hereditary Neuropathy Foundation, New York, New York, USA.,

    Sean Ekins

  2. Phoenix Nest, Brooklyn, New York, USA,

    Sean Ekins

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Correspondence to Sean Ekins.

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Competing interests

S.E. is a co-founder and employee of Collaborations Pharmaceuticals, Inc. and Phoenix Nest and consults for the Hereditary Neuropathy Foundation.

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Ekins, S. Industrializing rare disease therapy discovery and development. Nat Biotechnol 35, 117–118 (2017). https://doi.org/10.1038/nbt.3787

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