The new Witness Seminar volume is out!

As I talked about in my earlier blog post, the 62nd volume of the Wellcome Witnesses to Contemporary Medicine series entitled “The Therapeutic Implications of Muscular Dystrophy Genomics” has now been published and is available from the QMUL History of Modern Biomedicine group’s webpage. This volume is produced in collaboration with Prof. Steve Sturdy’s Wellcome Trust-funded research project Making Genomic Medicine at the University of Edinburgh, in particular one of its three research strands ‘the Rise of Rare Diseases’, which I have led as a research fellow since January 2014 and still am as a visiting researcher.


For long time, muscular dystrophy research led the way not only for studies of rare disease but also for medical genetics. The early part of the seminar explores the therapeutic landscape of muscular dystrophy and how the knowledge of genetics opened up various important avenues of its treatment, including genetic counseling, for the disease that physicians used to think there was nothing they could do about. The reason that we chose this topic, of course, was not only to do with its historical significance; we chose it because the landscape is still changing and it is chaining in a very exciting way. It was genomic understanding of different types of muscular dystrophy, namely Duchenne and Becker types, which has enabled the development of innovative exon-skipping therapy, and the latter part of the seminar focuses on this work. I was also very happy to see that the participant witnesses repeatedly emphasized the importance of patient organizations’ involvement in muscular dystrophy research over the last 30 years or so and the valuable contributions that they made.

I really hope this volume, along with several other volumes in the Witness Seminar series focusing on the topic of medical/clinical genetics, will be of some help for those who seek to understand the dynamics of medical genetics and the importance of cross-stakeholder collaboration in its advancement as well as in making genomic medicine.


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