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 499
Osteogenesis imperfecta 286
Fibrous dysplasia of bone 167
X-linked hypophosphatemia 92
Granulomatosis with polyangiitis 91
Sickle cell anemia 54
Eosinophilic granulomatosis with polyangiitis 53
Giant cell arteritis 48
Polymyalgia rheumatica 45