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A quarter of Patients with rare diseases wait up to 30 years for a diagnosis and 95% of rare diseases have no treatment. In addition the quality of care for rare disease patients is variable. The aim of Rudy is to transform research in patients with rare diseases and provide evidence to improve patients' outcomes and reduce variability of care.


We aim to develop a national cohort of participants with rare disorders of the bone, joints and blood vessels and their family members.

From this cohort we will characterise participants using their clinical history, physical examination and function, blood, urine, genetics and imaging results to describe different patient groups within each rare diagnosis to improve our understanding across all aspects.

We will then use this understanding to inform novel biomarkers and therapeutic targets.


There are currently 456 rare bone diseases recorded within 40 groups and 10 main types of vasculitis. Each has a differing impact on both the patient and the NHS.

Historically, investigation tests and treatments designed for more common disorders such as osteoporosis or arthritis have been applied to this patient group with variable results.

There is an urgent need to improve the care of these patients by developing novel diagnostic tests and therapies.

There are two current initiatives to meet this care gap. From the NHS, specialist commissioning clinical reference groups are being set up to define minimal care standards for patients with rare diseases in an attempt to harmonise care.

From the NIHR, research collaborations have been created to develop novel diagnostics and therapies for these patients in collaboration with genetic research and industrial partnerships though the 100K project.


The NIHR Rare diseases of Bone, Joint and blood vessels is funded by a partnership between the NIHR Rare Diseases Translational Research Collaboration and the NIHR Oxford Musculoskeletal Biomedical Research Unit, University of Oxford Oxford.

Rare UK Diseases of Bone Joints and Blood Vessel