Queen Square Centre for Neuromuscular Diseases


Identification of disease susceptibility genes associated with primary inflammatory muscle diseases

SponsorUniversity of Manchester
CIProfessor Michael Hanna
SitesLondon Queen Square
Contact detailsp.machado@ucl.ac.uk


PM, DM and IBM are a group of inflammatory muscle disorders of unknown cause.

They are currently classified under the umbrella term of idiopathic inflammatory myopathies (IIM). PM, DM and IBM are characterised by skeletal muscle inflammation and progressive muscle weakness.

This can be debilitating and persistent and occasionally fatal. Steroid and immuno-suppressive treatments are often only partially effective at reducing symptoms. They also have toxic side effects.

There is increasing evidence that genetic factors are involved in the development and expression (the disease severity and organs targeted for damage) of these conditions.

Many of the inflammatory mechanisms in PM, DM and IBM are similar to those in other inflammatory diseases, such as rheumatoid arthritis and systemic lupus erythematosus.

So it is likely that similar genetic factors are involved in the development and expression of PM, DM and IBM.

To develop better therapies for PM, DM and IBM, it is important to identify the disease mechanism.

Primary Objectives

To identify genes associated with the development and clinical characteristics of PM, DM and IBM.

Secondary Objectives

  • To better understand the mechanisms of the development of PM, DM and IBM
  • Ultimately identify new therapeutic targets for treatment.