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.
Funder(s)
Publication(s)
Primary location
Principal Investigator
Other people involved
Roxanna Munir, PhD student
Professor Tom Gillingwater, collaborator