Euan MacDonald Centre member and Principal Investigator, Professor Simon Parson has recently received funding from SMA Europe to develop a novel mouse model of spinal muscular atrophy (SMA), and also a Prize PhD Studentship from the Anatomical Society to characterise organ pathologies in patient material.
Simon Parson has been member of the Euan MacDonald Centre since it was first formed, initially while at the University of Edinburgh, and more recently at the University of Aberdeen where he is Regius Professor of Anatomy. His research focusses chiefly on a childhood, inherited form of MND called spinal muscular atrophy (SMA). Spinal muscular atrophy has been viewed as a disease solely targeting motor neurons, but over the last 15 years his group has pioneered our current understanding of SMA as a multisystem disease, describing multiple important defects in mouse models of SMA and in SMA patients.
The current focus of his group is to further understand the role of defects in blood vessels across multiple organs. Previous funding from SMA Europe allowed his laboratory to generate a novel transgenic mouse model to determine the effect of SMA pathology solely in the endothelial cells which make up all blood vessels. This additional funding from SMA Europe will allow him to fully characterise this mouse and determine whether defects in blood vessels contributes to motor neuron loss in the mouse.
Parallel research in his laboratory has reassessed fundamental damage in extremely rare paediatric post-mortem samples, using labour intensive but highly accurate 3D methods of cell counting. These studies have accurately defined the motor neuron loss which characterises SMA, but also have described additional damage beyond the motor neurons including in the blood vessels which supply motor neurons. The new funding from the Anatomical Society for a Prize PhD Studentship will allow him to extend these findings to other organ systems to determine to what extent blood vessel pathologies are present in organs such as liver and kidney from patients, where we have previously described defects in mouse models.
Together, these 2 new grants allow the laboratory to continue to generate novel data which is challenging the basic understanding of spinal muscular atrophy and looking identify new therapeutic targets.
Relevant links
Spinal Muscular Atrophy Europe (external website)
The Anatomical Society (external website)