Developing effective therapies for the childhood motor neurone disease, spinal muscular atrophy

Spinal muscular atrophy (SMA) is a debilitating childhood form of motor neurone disease. With one in every 6,000-10,000 babies born worldwide with the disease, SMA is the leading genetic cause of infant death (Lunn & Wang, 2008). SMA is caused by low levels of the survival motor neuron (SMN) protein, caused by deletions or mutations in the SMN1 gene. Although current clinical trials aimed at restoring levels of SMN protein are showing some promise, they remain far from a ‘cure’. Thus, combinatorial therapies (targeting multiple disease processes and molecular pathways) are likely to be required (Wirth et al., 2015). We have made some exciting breakthroughs in identifying novel therapeutic targets for SMA that are ideal for such combinatorial therapy approaches, based around newly discovered roles for SMN in regulating ubiquitin homeostasis (Wishart et al., 2014; Powis et al., 2016) and translation pathways (Bernabo et al., submitted). This project will undertake cutting-edge pre-clinical research in established mouse models of SMA in order to move these therapies towards the clinic. The student will receive training in a range of techniques, including microscopy, quantitative western blotting, proteomic screening technology and neuropathological analyses. The project therefore offers the student an opportunity to have a direct impact on future therapies for motor neurone disease, whilst learning a range of state-of-the-art skills and techniques required for a career in neurobiology research.

Prerequisites
Background in neuroscience and neurodegeneration (scientific and/or clinical) is desirable.
Essential skill: basic laboratory training in general cell and molecular biology techniques.

The Euan MacDonald Centre will fully fund one UK/EU studentship to commence in autumn 2017. Potential applicants must contact their supervisor of choice to discuss the project before applying. The interviews with successful candidates will be held in late January 2017.