Despite their name hinting at a marginal problem, rare diseases constitute a major health issue in Europe: according to the European Commission an estimated 27 to 36 million people live with one, and of these, 50% have not received a diagnosis. In fact, rare diseases frequently go undiagnosed or misdiagnosed for years. Currently, an estimated 95% of rare disease patients do not have an approved therapy available to them.

We reached out to the International Rare Diseases Research Consortium (IRDiRC) which is driving solutions and synergies by uniting researchers and experts with patient advocacy groups. We also explore the development of the Orphan Drug Development Guidebook (ODDG) – an achievement of the Therapies Scientific Committee of IRDiRC.

We catch up with researchers seeking to discover drugs for rare types of cystic fibrosis, and we find out about using 'organoids' in the hopes of gaining approval for each drug specific to a patient. Our focus will also extend to research tackling systemic autoinflammatory diseases (SAIDs), the causes and mechanisms of which remain elusive, making diagnosis a difficult and long process. Stay tuned for our series of articles on developments in rare disease research and innovation in Europe, and beyond.

See also:

Currently there's no cure for rare types of cystic fibrosis, but researchers are making significant advances

Solving the puzzle of rare diseases through international collaboration

The long journey to a rare disease diagnosis

The building blocks to make rare disease treatments more common