From diagnosis to therapy in Duchenne muscular dystrophy
Time: 2pm (BST)
Professor Dame Kay Davies from the MDUK Oxford Neuromuscular Centre will present her work in this field at the latest webinar organized by the Biochemical Society and Portland Press. Kay is the 2020 recipient of the Biochemical Society’s Centenary Award and her lecture will provide a summary of the current status of Duchenne Muscular Dystrophy (DMD) therapy with a particular focus on those genetic strategies which have been taken forward to the clinic.
Genetic approaches for the diagnosis and treatment of inherited muscle diseases have advanced rapidly in recent years. Most of the advances have occurred in the treatment of DMD, a muscle wasting disease where affected boys are typically wheelchair bound by 12 years of age and generally die from respiratory failure or cardiomyopathy in their twenties. DMD is caused by mutations in the dystrophin gene encoding the large cytoskeletal protein which associates with other proteins at the muscle membrane to form the dystrophin-associated protein complex (DAPC). In the absence of dystrophin, the DAPC is lost, making the muscle membrane more susceptible to contraction-induced injury. The identification of the gene causing DMD in 1986 resulted in improved diagnosis of the disease and the identification of hotspots for mutation. However there is currently no effective treatment.
There are several promising genetic therapeutic approaches at the preclinical stage or in clinical trials including exon-skipping, read-through of stop codons, delivery of dystrophin minigenes and the modulation of expression of the dystrophin related protein, utrophin.
This webinar will be chaired by Dr Augustin Amour, Adaptive Immunity Project Leader at GSK and member of the Society’s Clinical & Translational Research Theme Panel.