Willink Biochemical Genetics Unit
Principal investigator: Dr Simon Jones
The Willink laboratories are the main diagnostic laboratory for metabolic diseases in the North of England and have access to the largest cohort of patients in Europe for lysosomal storage and mucopolysaccharide diseases.
They are actively researching novel biomarkers, diagnostic tests and end point patient care and treatment within the CMMC NHS Trust and University framework. In particular, they have extensive experience of enzyme replacement therapy (ERT) in metabolic disease patients.
This was the main site for the phase III study which led to FDA and EMEA approval of Aldurazyme as a therapy for MPS I. Since approval, over 50 patients have been treated with Aldurazyme at RMCH, the world’s largest experience of ERT for MPS I and the early experience of ERT for MPS I.