05.10.2026 –, Tagungsraum Sprache: English
In rare disease research, citizens living with a condition are often positioned as contributors of data, yet less frequently recognised as producers and contributors of scientific knowledge. This raises important questions: how to ensure that research agendas are relevant for patients, and how is trust built between those who live with a condition and those who study it? In this context, patient organisations may act as key intermediaries, using participatory approaches to translate lived experience into collective priorities while challenging traditional boundaries between academia, real-life stories and meaningful participation.
SMA Europe is an umbrella organisation of 30 European patient organisations for spinal muscular atrophy (SMA), a rare and progressive neuromuscular condition. SMA Europe drives initiatives in research, advocacy, evidence generation, awareness raising, and capacity building to represent and communicate the needs of the community.
One of the key examples is the Priority Setting Partnership project, which used the James Lind Alliance approach to identify the most pressing unanswered questions about SMA from the perspective of citizens living with SMA, their caregivers and health and social care professionals. A transdisciplinary SMA expert panel subsequently translated these community-defined priorities into research areas with the highest translational relevance. This initiative represents the first European-wide, community-led initiative to define research priorities in SMA and reflects a growing shift toward inclusive governance in rare disease research. A subsequent communications campaign, co-created with community stakeholders, was then launched to raise awareness of the identified research priorities across public and professional audiences, build a feedback loop with study participants, and stimulate engagement from funders, researchers, and institutions to act on these priorities.
If citizens with rare conditions are to shape and contribute to research, they must also be able to critically engage with it. In rare diseases, accessible accounts of scientific progress remain limited, and communication often lacks patient-driven narratives. This creates a dilemma: how can trust be fostered if knowledge remains unevenly distributed? How can we expect our citizens to truly and actively contribute to the research and science environment if we do not provide the necessary tools for them to bridge the knowledge breach?
To address this challenge, SMA Europe developed The Rolling Story of SMA, a participatory storytelling project that speaks of the history of SMA research and its key scientific and therapeutic milestones in a lay and accessible language. Co-created with patients, families, SMA Europe funders and researchers, the project brings together multiple perspectives into a shared narrative that connects history and lived experience with scientific development and life-changing treatments that are available nowadays. The video and project behind it fund a base for an open and evolving conversation about what has been already gained for all the citizens who live with SMA and what is yet to be achieved.
This contribution grounds patient storytelling as a form of citizen science, in which patients and patient organisations act as knowledge producers and active contributors. It further positions narrative as a communication tool and structure that translate complex scientific evidence and data into socially meaningful and accessible knowledge. These approaches strengthen trust through authenticity, representation, raising awareness and legitimacy. At the same time questions about whose stories should be included, how they are curated, and how they interact with widely established and accepted forms of evidence are raised for further discussion and debate.
By bringing together priority setting and participatory storytelling, SMA Europe’s case study invites discussion on the role of narrative in shaping evidence ecosystems. It offers a model for rare disease communities, NGOs, and scientific institutions, while examining both the potential and boundaries of storytelling as a tool for citizen science and trust-building.
SMA Europe