Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Industrializing rare disease therapy discovery and development

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Rent or buy this article

Prices vary by article type



Prices may be subject to local taxes which are calculated during checkout


  1. Shen, T., Lee, A., Shen, C. & Lin, C.J. Genet. Res. 97, e15 (2015).

    Article  Google Scholar 

  2. Swinney, D.C. & Xia, S. Future Med. Chem. 6, 987–1002 (2014).

    Article  CAS  Google Scholar 

  3. Melnikova, I. Nat. Rev. Drug Discov. 11, 267–268 (2012).

    Article  CAS  Google Scholar 

  4. Yang, Y., Allen, E., Ding, J. & Wang, W. Cell. Mol. Life Sci. 64, 601–609 (2007).

    Article  CAS  Google Scholar 

  5. Wood, J., Sames, L., Moore, A. & Ekins, S. Drug Discov. Today 18, 1043–1051 (2013).

    Article  Google Scholar 

  6. Vandendriessche, T. et al. J. Thromb. Haemost. 5, 16–24 (2007).

    Article  CAS  Google Scholar 

  7. Mussche, S. et al. Hum. Gene Ther. 24, 209–219 (2013).

    Article  CAS  Google Scholar 

  8. Gilkes, J.A., Bloom, M.D. & Heldermon, C.D. Gene Ther. 23, 263–271 (2016).

    Article  CAS  Google Scholar 

  9. Bronstein, M.G. & Kakkis, E.D. Nat. Rev. Drug Discov. 15, 731–732 (2016).

    Article  CAS  Google Scholar 

  10. Munos, B.H. & Orloff, J.J. National Academy of Medicine Discussion Paper (2016).

Download references


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.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Sean Ekins.

Ethics declarations

Competing interests

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

Rights and permissions

Reprints and Permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ekins, S. Industrializing rare disease therapy discovery and development. Nat Biotechnol 35, 117–118 (2017).

Download citation

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing