Biochemical Journal Young Investigator Award winner

Claudia Braida

After Claudia Braida completed her BSc and MSc at the Universidad de la República in Uruguay, she moved to Scotland to undertake a PhD in Molecular Genetics at the University of Glasgow. During her PhD, she worked on an unusual family in which all patients co-segregate myotonic dystrophy type 1 (DM1) and Charcot-Marie-Tooth disease (CMT). DM1 is the most common form of muscular dystrophy in adults and is caused by the expansion of a (CTG)n repeat located in the 3-untranslated region of the DMPK gene. CMT is a genetically heterogeneous, hereditary motor and sensory neuropathy of the peripheral nervous system and mutations have been identified in more than 30 different genes. The molecular lesion in the patients was identified as a complex expanded allele containing interruptions at the DM1 locus. This expanded allele explains the presence of DM1 and it was hypothesized that the interruptions are responsible for the CMT symptoms. Since successfully completing her PhD in 2008, she has continued with her research as a postdoctoral research assistant funded by the Muscular Dystrophy Campaign. Hopefully, it will not be long before they understand how the mutation causes both diseases is understood, and in the future a therapy could be developed and provided to patients.