Researcher in genetics laboratory

Muscle Immunoanalysis Unit

Muscle ImmunoanalysisIn 2001 the National Specialist Commissioning Advisory Group (NSCAG, now National Commissioning Group NCG) in the Department of Health funded a national 'Diagnostic & Advisory Service for Rare Neuromuscular Diseases', which involved a consortium of centres in five different Trusts across England, led from Newcastle. The other four centres are in Oxford, London Hammersmith, London Guys and London Queen Square Institute of Neurology. Each centre has sole responsibility within the country for its particular specialised group of inherited diseases. In Newcastle the rare group of diseases covered are the Limb-Girdle Muscular Dystrophies (LGMDs).

LGMD is a large, heterogeneous group of genetic diseases featuring muscle weakness and wasting, with at least 10 different forms falling into this group that initially affect the muscles of the shoulder girdle and the hips The Muscle Immunoanalysis Unit (MIU) is the UK national referral centre for the diagnosis of LGMDs. The service provided by the unit is unique and is not duplicated anywhere else in the UK. Different sub-types of LGMDs involving different genes have been identified, comprehensive analysis of their protein products using immunohistochemistry and western blotting techniques helps recognize which gene is at fault. The results of the MIU work guide mutation analysis, genetic counselling and patient management.

The MIU works closely with the diagnostic molecular genetics unit and specialist clinicians at the Institute of Genetic Medicine, Newcastle upon Tyne. Also crucial is the ongoing involvement with research, since relevant disease-causing genes are still being discovered.

Personnel

Muscle Immunoanalysis Unit, Dental Hospital
Dr Rita Barresi (Clinical Scientist & National Co-ordinator)
Dr Richard Charlton (Clinical Scientist)
Mr Matt Henderson (Biomedical Scientist)
Mrs Julie Richards (Biomedical Scientist)
Miss Susan Robinson (Administrator)

Institute of Genetic Medicine, Centre for Life
Professor Katie Bushby (Lead Clinician)
Dr Judith Hudson (Clinical Scientist)
Dr Mark Buddles (Clinical Scientist)
Miss Karen Pryke (Medical Secretary)