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Rare Diseases

Living with rare disease

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28 February is Rare Disease Day, which raises awareness for the 300 million people across the world living with a…

Consolidating excellence in Rare Disease Research and Networking

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There are between 6-8000 rare diseases (RD): these are largely genetic diseases, often affecting multiple organ systems and typically presenting in childhood. 95% of RD have no dedicated treatment…

Translational advances in CYLD cutaneous syndrome (CCS)

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Novel clinical trial and associated experimental study demonstrate feasibility in the topical treatment of CCS.

Patients with the inherited condition (CYLD cutaneous syndrome – CCS) develop multiple, painful, hair follicle…

Exploring novel ways to monitor motor function

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Newcastle has been chosen as a clinical centre and a consortium partner for a project to develop non-invasive tools for measuring mobility in rare disease patients.

Volker Straub and Anna…

Stratified medicine in Primary Biliary Cholangitis

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Newcastle has led the development and implementation of stratified personalised medicine into normal clinical practice, for the autoimmune liver disease PBC.

Rather than being given a single standard therapy, the…