BEGIN:VCALENDAR
VERSION:2.0
PRODID:-//Talks.cam//talks.cam.ac.uk//
X-WR-CALNAME:Talks.cam
BEGIN:VEVENT
SUMMARY:Challenges in the development of therapy for Duchenne muscular dys
 trophy - Professor Dame Kay Davies
DTSTART:20210302T180000Z
DTEND:20210302T193000Z
UID:TALK157462@talks.cam.ac.uk
CONTACT:92260
DESCRIPTION:This talk is open to all regardless of membership.\nRegister h
 ere: https://forms.gle/okbSERnoUM3PAXXz6\n\n\nAbstract:\n\nGenetic approac
 hes for the diagnosis and treatment of inherited muscle diseases have adva
 nced rapidly in recent years. Many of the advances have occurred in the tr
 eatment of Duchenne Muscular Dystrophy (DMD)\, a muscle wasting disease wh
 ere affected boys are typically wheelchair bound by age 12 years and gener
 ally die from respiratory failure or cardiomyopathy in their twenties. DMD
  is caused by mutations in the dystrophin gene encoding the large cytoskel
 etal protein which associates with other proteins at the muscle membrane t
 o form the dystrophin-associated protein complex (DAPC). In the absence of
  dystrophin\, the DAPC is lost\, making the muscle membrane more susceptib
 le to contraction-induced injury. The identification of the gene causing D
 MD in 1986 resulted in improved diagnosis of the disease and the identific
 ation of hotspots for mutation. However there is currently no effective tr
 eatment. There are several promising genetic therapeutic approaches at the
  preclinical stage or in clinical trials including exon-skipping\, read-th
 rough 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 particu
 lar focus on those genetic strategies which have been taken forward to the
  clinic. \n\n\nSpeaker profile:\n\nProfessor Dame Kay Davies was an underg
 raduate at Somerville College and a Junior Research Fellow at Wolfson Coll
 ege\, Oxford. She was elected as Dr Lee’s Professor of Anatomy at the Un
 iversity of Oxford in 1998. Prof Kay Davies was Head of Department from 20
 08 to 2011. Her research interests lie in the molecular analysis of human 
 genetic disease\, particularly the genetic basis of neuromuscular and neur
 ological 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 mus
 cular 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-di
 rector 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.
LOCATION:Google Meets
END:VEVENT
END:VCALENDAR