The Rare Hackathon: An extracurricular educational event to promote rare disease awareness among students in medicine and life sciences

Abstract

Globally, millions of individuals are affected by rare diseases (RDs), yet there remains a significant gap in medical and life sciences education regarding RDs. This gap frequently leads to delays and challenges for patients in clinical settings and negatively impacts RD research. To address this, the EU-funded RareBoost project team organized the ‘Rare Hackathon’, as part of 2025 Rare Disease Day activities. The hackathon was designed as an educational event for undergraduate and graduate students, in which the student teams were asked to ‘solve’ two complex rare disease scenarios. Unlike similar hackathons, this event did not involve a patient cohort reanalysis. The teams developed diagnostic solutions, investigated genotype-phenotype correlations, and suggested experimental disease models to study gene-disease relationships. In a public session, the teams presented their solutions to a jury and received awards to further boost their scientific education. A post-event survey revealed that most students had limited prior exposure to RDs. The students reported that the hackathon helped them gain a better understanding of RD research, diagnosis, and challenges. Many students also expressed interest in working in the RD field in the future. Furthermore, students had valuable suggestions such as extending the event duration, incorporating training sessions, and including treatment design aspects. The Rare Hackathon successfully demonstrated how an extracurricular activity can raise awareness of RDs among medical and life sciences students. Incorporating similar events during students’ academic training can help close the gap in RD education, and as a result, improve outcomes for individuals living with rare conditions.