Our recent research has been expanding from its original focus on nuclear dynamics and splicing snRNP maturation to look at broader connections between RNA metabolism and inherited disease. We are predominantly interested in Spinal Muscular Atrophy, and have also published data on the dynamics of pathological nuclear RNA foci seen in Myotonic Dystrophy Type 1.
We have pioneered the use of a combination of quantitative proteomics and timed expression of GFP-tagged proteins to dissect stages of splicing snRNP maturation. This has led us to identify a novel cytoplasmic structure implicated in SMA pathology and provided insight into the complexity of interactions between SMN and splicing factors of relevance to SMA.