In my presentation I will discuss with you my experience in unraveling the challenges presented by several diseases which are each caused by a common mechanism, the unstable expansion of a three base pair repeat in DNA including Huntington’s Disease, myotonic dystrophy and fragile X syndrome. I will visit the ways in which DNA sequence expansion impacts on the lives of people and families in which these highly mutable DNA sequences are transmitted from one generation to the next. I will discuss with you the challenges presented in attempting to provide effective therapeutic intervention for these disorders. I look forward to dialogue with you on the issues, scientific, social and ethical presented by the continually improving understanding of this group of genetically based challenges to us and our families.
Board member of the Hereditary Disease Foundation and the FSHD Muscular Dystrophy SocietyNo slides available
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Please join on May 19-20, 2022