James Edmond WraithBMJ 2013; 346 doi: https://doi.org/10.1136/bmj.f3238 (Published 19 June 2013) Cite this as: BMJ 2013;346:f3238
- Anne Gulland, London
Ed Wraith chose a specialty that, at the time, some doctors might have seen as a career cul de sac. He trained as a general paediatrician but his career focus was on lysosomal storage diseases (LSDs), a group of progressive neurological conditions. At the start of his career these conditions were untreatable, with symptom control being the only option. His interest was prompted by wanting to improve the care of these patients with rare, life limiting, and disabling conditions. It was certainly not seen as an area where a young doctor could make their mark.
Wraith worked with a paediatrician at the Royal Manchester Children’s Hospital. He had an interest in metabolic diseases and started to investigate what could be done to help patients with these disorders. During his career he identified many major genetic mutations in storage diseases, including mucopolysaccharidosis (MPS) types. He undertook several natural history studies on the diseases, which led to better treatments and clinical classifications. He also wrote the NHS guidelines for management of MPSI, MPSII, and MPSVI; Niemann-Pick type C disease; infantile Pompe disease; and paediatric Gaucher disease.
Wraith became …
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