Rare diseases in Switzerland:
Unlocking resources and hope

Rare diseases represent a group of over 7’000 heterogeneous disorders with strong clinical impact and major social and economic consequences, affecting more than 500’000 patients – mostly children - in Switzerland. Rare diseases are responsible for 35% of deaths in the first year of life. One-third of the affected children will not live to see their 5th birthday.

More than 80% of rare diseases are caused by single-gene defects. The fragmentation of clinical and biological data, the small cohorts, the scarcity of suitable research models, and ethical and socioeconomic considerations are particular challenges for rare diseases. 

Targeted therapies are lacking for more than 90% of rare diseases. When they exist, their novelty, high costs, and technical complexity pose healthcare challenges like financing and egalitarian access.

Yet, ground-breaking initiatives are undergoing to face the major unmet needs of rare diseases. Our presentation will show how multi-disciplinary approaches take advantage of biological knowledge, model systems, artificial intelligence, and research on humanities to develop cutting-edge therapies and social innovations for rare diseases in Switzerland and beyond.