Postdoctoral Research Scientist
My current research focuses on modelling spinal muscular atrophy (SMA) using induced pluripotent cells derived from fibroblasts grown from skin biopsies from patients with spinal muscular atrophy (SMA). The overarching aims are (a) to develop disease relevant measures of cellular dysfunction which would give novel insights into the cause of SMA and disease mechanisms, (b) use these cells to validate druggable pathways in conjunction with industry collaborators, local researchers, and a national consortium of SMA researchers in target discovery.
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines
Ketley A. et al, (2014), Human Molecular Genetics, 23, 1551 - 1562