Targeting muscle and metabolic pathologies to develop new treatment strategies for spinal muscular atrophy by Melissa Bowerman

Summary: Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by reduced levels of the survival motor neuron (SMN) protein and characterized by motoneuron and muscle loss. Patients with the severe form typically die before the age of two while children with milder forms live into adulthood with limited motor abilities. The Food and Drug Administration (FDA) and European Medicines Agency (EMA) have recently approved the first SMN replacement strategy and additional promising SMN-enhancing gene therapies and small molecules are currently being evaluated. However, emerging results from pre-clinical and clinical studies highlight the need for approaches that will also include SMN–independent and systemic strategies. We and others have demonstrated that SMA patients and animal models display various metabolic and muscle pathologies that contribute to disease manifestation and progression. Our overall aim is to identify novel SMN-independent therapeutic strategies that ameliorate metabolic and/or muscle perturbations and that can be used in combination with clinically relevant SMN gene therapies for the treatment of all SMA patients.

Short Biography: Dr Bowerman is a Lecturer in Bioscience at the Keele University School of Medicine, a Group Leader at the Institute for Science and Technology in Medicine and a Group Member of the Wolfson Centre for Inherited Neuromuscular Disease in Oswestry. Dr Bowerman is also a principal investigator in the UK SMA Research Consortium. Dr Bowerman completed her Ph.D. (2006-2012) in Dr Rashmi Kothary’s laboratory (Ottawa Hospital Research Institute (OHRI)/University of Ottawa, Canada) where she held a CIHR Frederick Banting and Charles Best doctoral award and received the OHRI Dr. Ronald G. Worton Researcher in Training Award. Dr Bowerman then joined Dr Cedric Raoul’s laboratory at the Institut des Neurosciences de Montpellier in France as an EMBO Long-Term Fellow (2012-2014). From 2014-2016, Dr Bowerman was a postdoctoral research assistant at the University of Oxford in Professor Matthew Wood’s group. In October 2015, Dr Bowerman was the recipient of a Junior Research Fellowship at Somerville College, University of Oxford (2015-2017).  In January 2016, Dr Bowerman was awarded and SMA Trust Career Development Fellowship at the University of Oxford.