The Therapeutic Implications of Muscular Dystrophy Genomics

The Therapeutic Implications of Muscular Dystrophy Genomics
‘… the patient organizations have been partners in this endeavour right from the very start […] communication hasn’t always been as good as it could be with some of the bigger companies who have been involved along the way; but in essence, the communication between the scientists – and certainly with the small companies – has been excellent.’ Professor Kate Bushby
With an introduction by Professor Jan Witkowski, this Witness Seminar transcript presents an account of the therapeutic implications of muscular dystrophy genomics. The participants provide insights into the clinical and genetic characterizations of muscular dystrophy, with a particular emphasis on Duchenne muscular dystrophy, and shed light on the research coordination and the recent approaches towards the treatment of this group of devastating pathological entities.
Zarros A, Overy C, Mikami K, Sturdy S, and Tansey E M. (eds) (2017)
Wellcome Witnesses to Contemporary Medicine, vol. 62. London: Queen Mary University of London.
ISBN 978 1 91019 5239
‘I remember being very involved with using these molecular probes in order to refine the carrier risk for these women, mothers of boys with Duchenne muscular dystrophy. It was so helpful because I remember it was so agonizing initially when they would just say they would terminate all male pregnancies, and they knew that at least half of these would be fine.’ Professor Shirley Hodgson