Molecular characterisation of underlying systemic pathologies in spinal muscular atrophy

About the project

Spinal muscular atrophy (SMA) is now recognised as not just a neuromuscular disease and the aim of our research is to improve future therapeutic interventions.  Our goal is to identify novel tissues affected in SMA and to understand both the molecular biology that underpins this pathology and its developmental timing.    We are using a variety of approaches to address our research aims and are currently working on two projects. 

Project 1 is concerned with the hypothetical role of epigenetics in SMA pathology and we are using quantitative molecular methods to identify genes with altered expression that have the potential to contribute to systemic SMA pathology. 

Project 2 will utilise a zebrafish model to determine whether neural crest cells are affected in SMA.  This model will be also be used to identify an appropriate developmental time point that leads to phenotypic rescue. 

Both projects are at the pilot stage.


Tenovus Scotland, Carnegie Trust, Glasgow Caledonian University-funded PhD studentship


Hunter G, Powis RA, Jones RA, Groen EJ, Shorrock HK, Lane FM, Zheng Y, Sherman DL, Brophy PJ, Gillingwater TH
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy
Hum Mol Genet. 2016 Jul 1;25(13):2853-2861
Hunter G, Aghamaleky Sarvestany A, Roche SL, Symes RC, Gillingwater TH
SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy
Hum Mol Genet. 2014 May 1;23(9):2235-50
Hamilton G, Gillingwater TH
Spinal muscular atrophy: going beyond the motor neuron
Trends Mol Med. 2013 Jan;19(1):40-50

Primary location


Principal Investigator

Other people involved

Roxanna Munir, PhD student

Professor Tom Gillingwater, collaborator