Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
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)
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).
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).
Kim, J. et al. Patient-customized oligonucleotide therapy for a rare genetic disease. N. Engl. J. Med. 381, 1644–1652 (2019).
Zanello, G. et al. Targeting shared molecular etiologies underlying multiple rare diseases. EMBO Mol. Med. 15, e17159 (2023).
Seydel, C. Personalized medicine is having its day. Nat. Biotechnol. 41, 441–446 (2023).
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