PhD Developing the next generation of therapies for the childhood motor neuron disease, spinal muscular atrophy (SMA)

Vacancy Reference Number

2019-SPRINT-03

Closing Date

7 Jan 2019

Address

Euan MacDonald Centre for MND Research, University of Edinburgh

Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the SMN1 gene. Excitingly, SMA has recently moved into a therapeutic era, with an approved SMN gene-targeted therapy (nusinersen/Spinraza™) that improves many aspects of disease, including motor function and survival. This has catapulted SMA to the forefront of neuromuscular disease research, providing a unique opportunity to improve outcomes for patients whilst facilitating study of the impact of therapies on underlying disease biology. Importantly, however, clinical data concerning SMN-targeted therapies demonstrate that the current situation only represents the beginning of the journey for therapy development, rather than the end. SMN-targeted therapies improve key disease parameters including motor function and survival in many patients, but they remain far from representing a “cure”. Instead, SMN-targeted therapies are modifying the natural progression of the disease, leading to a need to develop a ‘next-generation’ of combinatorial therapies (“SMN-plus”) for SMA.

This project will utilise a range of techniques and approaches (including high-resolution microscopy and molecular profiling techniques) to undertake pre-clinical research examining the potential benefits of combining SMN-dependent therapies with other therapies targeting SMN-independent pathways in mouse models of SMA. We will assess their effectiveness on both neuromuscular and systemic pathology.

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