Institute of Genetic Medicine

Muscle Immunoanalysis Unit

Muscle Immunoanalysis Unit

In 2001, the government funded a Diagnostic & Advisory Service for Rare Neuromuscular Diseases.

This involved centres in five different Hospital Trusts across England, led from Newcastle. The other four centres are in:

  • Oxford
  • London Hammersmith
  • London Guys
  • London Queen Square Institute of Neurology

Each centre has sole responsibility for a particular specialised group of inherited diseases.

Newcastle

In Newcastle, the rare group of diseases is the limb-girdle muscular dystrophies (LGMDs).

LGMD is a large, heterogeneous group of genetic diseases. They feature muscle weakness and wasting.

There are at least 10 different forms falling into this group. They initially affect the muscles of the shoulder girdle and the hips.

Our unit is the national referral centre for diagnosis of LGMDs. The service provided by us is unique and is not duplicated anywhere else in the UK.

Different sub-types of LGMDs involving different genes have been identified.

Our work

Comprehensive analysis of their protein products helps recognise which gene is at fault. We use immunohistochemistry and western blotting techniques to complete this analysis.

The results of the MIU work guide:

  • mutation analysis
  • genetic counselling
  • patient management

The MIU works with diagnostic molecular genetics unit and specialist clinicians at IGM. We're also crucial in 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)