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Challenges in the development of therapy for Duchenne muscular dystrophy

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  • UserProfessor Dame Kay Davies
  • ClockTuesday 02 March 2021, 18:00-19:30
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Genetic approaches for the diagnosis and treatment of inherited muscle diseases have advanced rapidly in recent years. Many of the advances have occurred in the treatment of Duchenne Muscular Dystrophy (DMD), a muscle wasting disease where affected boys are typically wheelchair bound by age 12 years 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 lecture will provide a summary of the current status of DMD therapy with a particular focus on those genetic strategies which have been taken forward to the clinic.

Speaker profile:

Professor Dame Kay Davies was an undergraduate at Somerville College and a Junior Research Fellow at Wolfson College, Oxford. She was elected as Dr Lee’s Professor of Anatomy at the University of Oxford in 1998. Prof Kay Davies was Head of Department from 2008 to 2011. Her research interests lie in the molecular analysis of human genetic disease, particularly the genetic basis of neuromuscular and neurological disorders. She first became interested in muscular dystrophy more than 20 years ago and many of her research group are dedicated to finding effective treatments for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy. She set up the MRC Functional Genomics Unit in 1999 and co-founded the Oxford Centre of Gene Function in 2000. She is currently co-director of the MDUK Oxford Neuromuscular Centre. Prof Davies is a Founding Fellow of the Academy of Medical Sciences and was elected a Fellow of the Royal Society in 2003. Dame Kay was advanced to the Dame Commander of the Order of the British Empire (DBE) in the 2008 New Year Honours.

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