|
|
||
|
|
||
|
Research
into Muscle Disease in the University of Wales College of Medicine |
||
|
The Institute of Medical Genetics has an international reputation for its research into genetic aspects of muscle disease. There are close links to the developing Wales Gene Park. This includes work on the following disorders: |
||
|
Muscular Dystrophy (Professor Peter Harper, Dr Mark
Rogers) |
||
|
The Cardiff team was responsible for
finding the original myotonic dystrophy gene and a study is now in progress
on defining the features of the recently recognised type 2 myotonic
dystrophy (proximal myotonic myopathy, PROMM). |
||
|
Both Dr Rogers and Professor Harper form
part of the international ENMC consortium on type 2 myotonic dystrophy and
the Myotonic Dystrophy Management and Therapy Consortium. |
||
 |
||
| Facioscapulohumeral Muscular Dystrophy | ||
|
Dr Mark Rogers (Clinical Consultant) and Dr Meena Upadhyaya (Principal Scientist) are closely involved in research on this disorder and are authors in a forthcoming book to be published shortly. |
||
|
Duchenne/Becker
Muscular dystrophy |
||
|
The Cardiff research team played a major role in identifying the gene for this condition and is now responsible for genetic analysis as part of the Wales Genetics laboratory service. An important ongoing project is the all Wales newborn screening programme for Duchenne dystrophy (led by Professor Angus Clarke), offered to all families living in Wales, which has closely analysed the social and family effects of detecting this disorder before symptoms have arisen. |
||
|
A number of clinical studies on Duchenne dystrophy are also in progress, coordinated by Dr Jane Fenton May, based on the Wales register for the disorder. |
||
| Genetics and Society | ||
|
Professor Angus Clark works closely with the departments with in the University of Wales has set up a forum to discuss and research these issues. |
||
|
|
||
