How many zebras are there now? An updated report on publications on rare diseases in medical literature
Year: 2025
Type: article
Study design: Systematic Review
Abstract: 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.
Source: Future Rare Diseases
Language: English
Subfield: Statistics, Probability and Uncertainty
Field: Decision Sciences
Domain: Social Sciences
Open Access status: diamond
Funder: Pfizer
OpenAlex ID: W4410187728