The Centre for Rare Diseases

The Centre for Rare Diseases at the Queen Elizabeth Hospital Birmingham offers a unique care hub to the patients it serves. Opened in September 2015, it has since seen around 2,000 patient appointments, with thirty four bespoke clinics integrating expert, multi-specialty care with research. The facility forms part of the NIHR Clinical Research Facility within the Institute of Translational Medicine.

The rare disease centre’s focus is on highly organised, one-stop clinics where patients, supported by their carers, undergo pre-planned diagnostic tests and see all the relevant specialists and the multi-disciplinary team in one visit. Working alongside the centre, the West Midlands Genomics Medicine Centre (WMGMC) is one of thirteen such centres in England delivering the 100,000 Genomes Project.

The WMGMC project complements the work within the rare disease centre and ensures the Trust is leading the way in improving the prediction and prevention of disease, enabling more new and precise diagnostic tests and allowing personalisation of drugs and other treatments to specific genetic variants to benefit generations to come.

Dr Graham Lipkin, Consultant Nephrologist and lead for the centre, said: “Many people in the UK are living with a rare disease, which can have a major impact on the quality of their life and on their close relatives. There are an estimated 7000 rare diseases and most of these are inherited. The centre works with our patients, staff and partners to coordinate input from the large number of medical, nursing and therapy specialists that are generally required to provide the best level of care for people living with these conditions.”

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