My work has begun by evaluating the extent of NMJ pathology at a time point that, when rescued, is associated with a significant extension in life span and amelioration of phenotypic pathology.
- PhD Neuroscience, University of Aberdeen - 2017.
- MSc Human Anatomy, Edinburgh University - 2013.
- BScHons Sport and Exercise Science, Heriot Watt University - 2012.
Spinal Muscular Atrophy (SMA) is a devastating childhood motor neuron disease characterised by the degeneration of lower motor neurons. Over recent years there have been significant advances in the development of therapeutic strategies for SMA; one such therapy has been approved by the European Commission for use across the most of the EU in type 1 – 4 SMA sufferers, and for Type 1 sufferers in the UK under the Expanded Access Programme.
While this therapy is of huge significance and a milestone to be celebrated, studies of SMA mouse models have shown that early administration of the therapy is vital in order to significantly improve SMA pathology.
Neuromuscular Junction (NMJ) degeneration is a hallmark pathology in SMA. My current research is investigating how NMJs respond to therapy when it’s administered at different time points in disease progression. Not only does this give us insight into the capacity of the NMJ to recover, but it also allows us to study the efficacy of potential combinational therapies.
My work has begun by evaluating the extent of NMJ pathology at a time point that, when rescued, is associated with a significant extension in life span and amelioration of phenotypic pathology. What we have found is that the NMJ pathology is surprisingly severe at this stage, therefore the capacity of the NMJ to recover so significantly is remarkable. We are now investigating whether the NMJ is capable of such recovery when rescue therapy is given at a later time point in disease progression.
- Kline RA, Kaifer KA, Osman EY, et al. (2017) Comparison of independent screens on differentially vulnerable motor neurons reveals alpha-synuclein as a common modifier in motor neuron diseases. PLoS Genet, 13, e1006680.
- Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH (2008) Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet, 17, 949-62.