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.


Defining rare conditions in the era of personalized medicine

Access options

Rent or buy this article

Prices vary by article type



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

Nature Reviews Drug Discovery 22, 857-858 (2023)



  1. Richter, T. et al. Rare disease terminology and definitions—A systematic global review: Report of the ISPOR Rare Disease Special Interest Group. Value Health 18, 906–914 (2015).

    Article  PubMed  Google Scholar 

  2. Kesselheim, A. S., Treasure, C. L. & Joffe, S. Biomarker-defined subsets of common diseases: policy and economic implications of Orphan Drug Act coverage. PLOS Med. 14, e1002190 (2017).

    Article  PubMed  Google Scholar 

  3. Kim, J. et al. Patient-customized oligonucleotide therapy for a rare genetic disease. N. Engl. J. Med. 381, 1644–1652 (2019).

    Article  PubMed  Google Scholar 

  4. Zanello, G. et al. Targeting shared molecular etiologies underlying multiple rare diseases. EMBO Mol. Med. 15, e17159 (2023).

    Article  PubMed  Google Scholar 

  5. Seydel, C. Personalized medicine is having its day. Nat. Biotechnol. 41, 441–446 (2023).

    Article  PubMed  Google Scholar 

Download references

Competing Interests

A.A.-R. discloses being employed by LUMC, which has patents on exon skipping technology, some of which have been licensed to BioMarin and subsequently sublicensed to Sarepta. As co-inventor of some of these patents, A.A.-R. is entitled to a share of royalties. A.A.-R. further discloses being an ad hoc consultant for PTC Therapeutics, Sarepta Therapeutics, Regenxbio, Dyne Therapeutics, Lilly, BioMarin Pharmaceuticals., Eisai, Entrada, Takeda, Splicesense, Galapagos and AstraZeneca. Past ad hoc consulting has occurred for Alpha Anomeric, CRISPR Therapeutics, Summit, Audentes Santhera, Bridge Bio, Global Guidepoint and GLG consultancy, Grunenthal, Wave and BioClinica. A.A.-R. also reports having been a member of the Duchenne Network Steering Committee (BioMarin) and being a member of the scientific advisory boards of Eisai, Hybridize Therapeutics, Silence Therapeutics and Sarepta Therapeutics, and a past member of the scientific advisory boards for ProQR and Philae Pharmaceuticals. Remuneration for these activities is paid to LUMC. LUMC also received speaker honoraria from PTC Therapeutics, Alnylam Netherlands, Pfizer and BioMarin Pharmaceuticals and funding for contract research from Italfarmaco, Sapreme, Eisai, Galapagos, Synnaffix and Alpha Anomeric. Project funding is received from Sarepta Therapeutics and Entrada. The other authors declare no competing interests. The views of the authors are their own and do not necessarily reflect their respective affiliations

Nature Careers


  • Assistant Professor

    The Division of Immunobiology within the Department of Pathology and Immunology at Washington University School of Medicine in St. Louis is seeking...

    Saint Louis, Missouri

    Washington University in Saint Louis Division of Immunobiology

  • Become a Harvard Radcliffe Institute Fellow

    Harvard Radcliffe Institute fellows are exceptional scientists, writers, s...

    Cambridge, Massachusetts

    Harvard Radcliffe Institute

  • Associate or Senior Editor

    Position: Associate or Senior Editor Location: NYC or Berlin - Hybrid working model Deadline: August 27th, 2024   JOB SUMMARY: Nature, the internat...

    New York City, New York (US)

    Springer Nature Ltd

  • Locum Associate or Senior Editor, Nature Neuroscience

    Locum Associate or Senior Editor, Nature Neuroscience Line manager Chief Editor, Nature Neuroscience Location: NYC, Berlin Deadline: August 5th, 20...

    New York (US)

    Springer Nature Ltd

  • Chief Editor, Nature Health

    Position: Chief Editor, Nature Health Locations: New York, London Closing date: 25th August, 2024   Springer Nature, the publisher of Nature, is lo...

    New York City, New York (US)

    Springer Nature Ltd

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


Quick links