Swiss Rare Disease Registry
Swiss Rare Diseases Registry (SRDR): ITINERARE collaborates closely and supports the Swiss Rare Disease Registry (SRDR), which is hosted at the Institute of Social and Preventive Medicine at the University of Bern. The SRDR aims to register as many people as possible with a rare disease living or being treated in Switzerland to shed light to the situation of rare diseases in the country and contribute to improving care and research related to rare diseases. In answer to previously faced challenges and in order to improve collaboration with all stakeholders at a nationwide level, SRDR is currently undergoing extensive re-organisation. As part of this process, it aims to apply to swissethics for an advisory opinion, the current state-of the art approach for registries, in the second half of 2025. Before this process started, more than 3500 patients have consented to participate to the SRDR. While transfer of data from hospitals is currently paused, several thousands of new patients have been ORPHAcoded as 17 out of 20 collaborating hospitals continue to assign codes in preparation to resume invitations of patients to register. At the same time, a new online patient portal that allows the self-registration of patients was recently set-up and is available in German, French, Italian, and English since December 2024. The SRDR is now launching a wide communication campaign to advertise this opportunity among patient associations. Data transfer from clinics is expected to resume by 2026 and subsequently we expect a steep increase in numbers of registered patients, surpassing quickly 10‘000 in the next years and continuing to rapidly increase.
AGORA Project
In collaboration with filmmakers, journalists, researchers, doctors, and people living with rare diseases, the Swiss Registry for Rare Diseases has developed the national project RARE but MANY. The Swiss National Science Foundation (SNSF) has selected the project for AGORA-funding.
An AGORA project is not a traditional research project. Its focus is on science communication - the exchange between researchers and society. By “society,” we mean people living with a rare disease and their families, professionals in medicine and therapy, policymakers and government officials, as well as anyone in Switzerland who is interested in the topic.
RARE but MANY is developing an interactive web platform featuring short, compelling video clips in which people living with rare diseases, researchers, and healthcare professionals share their perspectives. The topics range from the experience of living with a rare disease to current research challenges and the potential of registries and digital health data—all presented as personal, concrete stories in an accessible format. In addition, RARE but MANY is planning a series of public dialogue events—both in person and online—linked to the platform.
In the long term, the project aims to raise public awareness of rare diseases, increase patient involvement, support policy decisions, and promote cost-effective, participatory research on rare diseases using digital health data.