Which rare diseases are we interested in?

Which rare diseases are we interested in?

Any individual with a rare disease that happens in under 1 per 2000 people in the UK is eligible as well as their blood relatives and partners.

We are expanding to include all rare diseases. The number of diseases we are interested in is growing as more researchers join the network. If your rare disease is not currently included in this list, please register on the website anyway.


We have participants with a wide range of diagnoses. Some of them are listed here:

Multiple myeloma 965
Osteogenesis imperfecta 293
X-linked hypophosphatemia 189
Granulomatosis with polyangiitis 96
Sickle cell anemia 119
Eosinophilic granulomatosis with polyangiitis 48
Giant cell arteritis 57
Polymyalgia rheumatica 58