How many zebras are there now? An updated report on publications on rare diseases in medical literature

Previously, we reported that medical literature on rare diseases was both scarce and mostly inaccessible. In this study, we evaluated changes in the past 5 years. We performed a systematic search of the Dimensions database for rare disease-related publications from 2019 to 2023 using the same terms as in our previous paper and compared the results to our earlier findings. We also evaluated publication patterns, including open access, publication of plain language summaries, patient-reported outcomes, and social media posts. The proportion of rare disease publications remained low and relatively stable in Dimensions over the past 15 years (0.20% [2009–2013], 0.24% [2014–2018], and 0.25% [2019–2023]). The majority of recent (2019–2023) publications were research articles (65.32%), published in specialist journals (39.48%), with 72.58% published as open access. Only 0.42% of recent articles had plain language summaries. Social media mentions of recent rare disease publications (39%) were comparable with their proportion in the overall medical literature (38%). The paucity of rare disease-related publications highlights an urgent need for increasing knowledge on rare diseases through medical literature to better serve patients, their families, and the healthcare professionals who treat them. Social media increasingly is being used to share information.

Citation

Moroz, T., Taylor, M., Schmitt, P., Donovan, D.J. and Nori, M. (2025) How many zebras are there now? An updated report on publications on rare diseases in medical literature, Future Rare Diseases, 5:1, article number 2499402, DOI: 10.1080/23995270.2025.2499402

Type

Journal article

Language

en

Description

© 2025 The Authors. Published by Taylor & Francis. This is an open access article available under a Creative Commons licence. The published version can be accessed at the following link on the publisher’s website: https://doi.org/10.1080/23995270.2025.2499402

ISSN

2399-5270

Collections

Faculty of Arts, Business and Social Sciences