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Time: 4.00pm - 5.00pm
Professor Dame Kay E Davies lectures on "Progress in therapy for Duchenne muscular dystrophy: a reason for optimism".
Duchenne muscular dystrophy (DMD) is a devastating X-linked progressive muscle wasting disease affecting approximately one in 3,500 boys. Patients are usually confined to a wheelchair before the age of twelve and die in their late teens or early twenties, usually of respiratory failure. A milder form of the disease, Becker muscular dystrophy (BMD) has a later onset and a much longer survival. Both disorders are caused by mutations in the dystrophin gene which encodes a 427kDa cytoskeletal protein. Before the advent of DNA recombinant technology, carrier detection for the disease was unreliable and prenatal diagnosis was not possible. Using DNA markers, these tests are now routine in diagnostic laboratories around the world.