The research team, led by Helen Maginnis and Agata Oliwa as joint first authors, with Lucy McKay of the charity Medics for Rare Disease and Duncan Cole of Cardiff University School of Medicine among the senior investigators, designed a cross-sectional online survey of 28 items. The questionnaire was adapted from an earlier instrument developed at University Hospitals Leuven and distributed with the help of student networks, including Students for Global Health and the National Student Association for Medical Research, to students at 35 medical schools accredited by the General Medical Council. The survey measured both self-assessed knowledge and awareness of rare disease and an objective knowledge test, alongside questions about educational experience and exposure to people living with rare conditions.

In total, 253 responses were recorded from undergraduate and graduate-entry medical students, of which 126 fully completed responses from 27 medical schools were suitable for analysis. Respondents spanned all years of medical study, although the majority, 79 percent, were in years one to four or undertaking an intercalated degree. The numbers provide a snapshot rather than a census, but the breadth of participating institutions lends weight to the central finding: rare disease education in the UK undergraduate curriculum is patchy, inconsistent and, by the students’ own assessment, frequently inadequate.

The headline figures are striking. The median self-assessed knowledge of rare disease among respondents was just 3 out of 10, indicating that even students who chose to answer a survey on the topic rated their own understanding as low. Objective knowledge, measured with a fifteen-point test, yielded a median score of 9, suggesting a partial but incomplete command of core concepts. More troubling than the raw scores, however, was the trajectory: there was no consistent improvement in self-assessed knowledge, self-assessed awareness or objective test performance as students advanced through their degrees. Whatever learning does occur appears scattered rather than cumulative, dissipated across a curriculum that rarely returns to the topic in a structured way.

The study also probed what does seem to move the needle. Students with greater clinical exposure to people living with rare disease, and those with a personal connection to the rare disease community, reported higher self-assessed knowledge and awareness than their peers. Yet notably, neither form of experience translated into higher objective knowledge scores. This dissociation matters because it suggests that encountering rare disease in the clinic, however valuable for empathy and awareness, does not by itself build the transferable cognitive framework, such as an understanding of inheritance patterns, diagnostic delay, multidisciplinary coordination and the appropriate use of genomic and specialist services, that clinicians need to recognise and manage these conditions.

Preparedness for practice was similarly limited. Just over half of respondents reported receiving some rare disease education during their degree, but only one in five felt prepared to recognise or consider a rare disease in clinical practice. This gap between exposure and readiness echoes the lived experience of patients, who frequently describe years of uncertainty, multiple misdiagnoses and repeated referrals before a definitive diagnosis is reached. The so-called diagnostic odyssey that characterises rare disease is driven in part by a knowledge gap among healthcare professionals, and the RISE findings indicate that this gap begins forming well before graduation.

Encouragingly, the appetite for learning is there. Nearly three-quarters of students surveyed, 73.8 percent, expressed interest in further rare disease education, with lectures identified as the preferred mode of delivery. Free-text responses, analysed thematically, revealed the practical constraints that students believe stand in the way: curriculum overload and the sheer impracticality of memorising detailed information about thousands of individual disorders. Students are not asking to catalogue the entire Orphanet database. They are asking for a framework, a way of thinking about rarity, undiagnosed presentations and coordinated care that can be applied whatever the specific condition in front of them.

The authors argue that the findings point toward educational approaches that combine experiential learning with structured educational support. Clinical encounters and patient narratives can motivate and humanise the subject, but they need to be anchored by explicit teaching, formative assessment and curriculum time that is protected rather than incidental. The theoretical framing of the study draws on Experience-Based Learning and Transformative Learning Theory, both of which hold that meaningful clinical experiences must be processed and integrated through guided reflection and formal instruction if they are to produce durable, applicable knowledge. In other words, a memorable patient story is a beginning, not a curriculum.

The implications extend beyond the medical schools surveyed. The UK’s Rare Diseases Framework, and similar strategies internationally, have committed to faster diagnosis, better coordination of care and increased awareness among health professionals. Those commitments ultimately depend on the baseline training of the workforce. If a substantial proportion of graduating doctors do not feel prepared even to consider a rare diagnosis, then every downstream service, from specialist centres to genomic medicine alliances, inherits a population of clinicians who may not refer appropriately or early. The RISE study, funded by Medics for Rare Disease, provides a quantitative baseline against which curriculum reform can be measured, and its authors suggest that even modest, well-designed additions to undergraduate teaching, aligned with the knowledge and skills students themselves want, could meaningfully shorten the diagnostic journey for the estimated one in seventeen people whose lives are touched by a rare condition. The message from students themselves is unambiguous: they want this education, and the system that trains them now has the evidence to deliver it.

Subject of Research: Medical students' knowledge, experience and education regarding rare disease in the United Kingdom

Article Title: The Rare dISease Evaluation (RISE) study: a survey-based investigation of medical student experience and knowledge of rare disease in the UK

Article References: Maginnis, H., Oliwa, A., Classen, M., Adams, A., Alani, Z., Brooksbank, L., Mercer, C., Nikookam, Y., Pearson, M., Saw, A. M., Steele, A., McKay, L., & Cole, D. (2026). The Rare dISease Evaluation (RISE) study: a survey-based investigation of medical student experience and knowledge of rare disease in the UK. BMC Medical Education. https://doi.org/10.1186/s12909-026-10338-z

Image Credits: AI Generated

DOI: 10.1186/s12909-026-10338-z

Keywords: rare disease, medical education, medical students, RISE study, undergraduate curriculum, UK medical schools, survey research, diagnostic odyssey, Medics for Rare Disease, health professional training, patient preparedness, curriculum reform