Skip to main content

Thank you for visiting nature.com. 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.

Their lives in their hands

A Publisher Correction to this article was published on 21 November 2019

This article has been updated

The devastating diagnosis of a rare disease is prompting an increasing number of people to go to the bench and take research into their own hands

This is a preview of subscription content

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Change history

  • 21 November 2019

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

References

  1. 1.

    Hughes, V. Nat. Biotechnol. 28, 1145–1148 (2010).

    CAS  Article  Google Scholar 

  2. 2.

    Painter, C. A. & Ceol, C. J. Methods Mol. Biol. 1176, 143–155 (2014).

    CAS  Article  Google Scholar 

  3. 3.

    Megquier, K. et al. Preprint at bioRxiv, https://doi.org/10.1101/570879 (2019).

  4. 4.

    Marshall, E. Science 305, 1226 (2004).

    CAS  Article  Google Scholar 

  5. 5.

    Hammermesh, R. et al. Case report 9-814-026 (Harvard Business School, 2014); https://www.themmrf.org/wp-content/uploads/HBS-CASE-STUDY.pdf

  6. 6.

    Fajgenbaum, D. Chasing My Cure (Ballantine Books, 2019).

  7. 7.

    Lek, M. et al. Nature 536, 285–291 (2016).

    CAS  Article  Google Scholar 

  8. 8.

    Dixon-Salazar, T. J. et al. Sci. Transl. Med. 4, 138ra78 (2012).

    Article  Google Scholar 

  9. 9.

    Eriksson, M. et al. Nature 423, 293–298 (2003).

    CAS  Article  Google Scholar 

  10. 10.

    Gordon, L. B. et al. J. Am. Med. Assoc. 319, 1687–1695 (2018).

    CAS  Article  Google Scholar 

  11. 11.

    Raymond, G. J. et al. JCI Insight 4(16), e131175 (2019).

    Article  Google Scholar 

  12. 12.

    Vallabh, S. M. et al. Proc. Natl. Acad. Sci. USA 116, 7793–7798 (2019).

    CAS  Article  Google Scholar 

  13. 13.

    Stephens, P. J. et al. Cell 144, 27–40 (2011).

    CAS  Article  Google Scholar 

  14. 14.

    Keshavan, M. STAT News https://www.statnews.com/2018/10/22/a-tailor-made-therapy-may-have-halted-a-rare-disease/ (22 October 2018).

  15. 15.

    Tabrizi, S. J. et al. N. Engl. J. Med. 380, 2307–2316 (2019).

    CAS  Article  Google Scholar 

  16. 16.

    Broder, J. Washington Post https://beta.washingtonpost.com/health/his-daughter-annabel-has-a-rare-disorder-hes-developing-a-novel-gene-therapy/2019/08/30/e47a1678-c80e-11e9-be05-f76ac4ec618c_story.html?noredirect=on (3 September 2019).

Download references

Author information

Affiliations

Authors

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Branca, M.A. Their lives in their hands. Nat Biotechnol 37, 1255–1260 (2019). https://doi.org/10.1038/s41587-019-0303-z

Download citation

Search

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