context
Rare diseases affect few people individually, but represent a major collective challenge: for each patient and family, obtaining a diagnosis, a treatment or appropriate support is often a long and difficult journey. Orphanet Switzerland and kosek play a key role in ensuring these patients are not forgotten: by providing a unique database, coordinating experts, strengthening care networks and supporting patient organizations. However, their future is threatened by the lack of funding until the adoption of the national law on rare diseases. This project aims to guarantee the continuity of these vital structures and preserve an indispensable resource for the rare disease community in Switzerland.
Project
The project 'Orphanet Switzerland – kosek' aims to maintain and develop essential activities for rare diseases in Switzerland, while awaiting the future legal and financial framework. Concretely, this means ensuring the updating of Orphanet databases, Orpha coding, support for registries and biobanks, visibility of expert centers and laboratories, as well as links with patient organizations. At the same time, kosek will continue to coordinate the implementation of the National Concept, gather expert groups and provide advice and support to health authorities. This project reflects a strong commitment to keeping Switzerland at the forefront in the field of rare diseases and to continue delivering concrete answers to patients and their families.
Project Managers
Dr. Loredana D’Amato Sizonenko, Associate Physician, Genetic Medicine Service, Diagnostic Department, Geneva University Hospitals
Mr. Jean-Blaise Wasserfallen – Project Manager, Orphanet Switzerland
Ms. Christine Guckert – Project Manager, kosek
