Background

SMA is caused by a decrease in an essential protein called SMN, present in all cells and required for cell survival. Pathology in nerve and muscle are most significant and without treatment, results in loss of function and ultimately limits life in people who live with SMA.

However, Professor Parson and colleagues have shown wide ranging changes in the cardiovascular, gastrointestinal and renal systems and an underlying defect in the blood vessels which supply these systems. Importantly, blood vessels defects are associated with nerve cell loss.

Professor Parson and his team will set out to determine if these defects in blood vessels may cause or worsen patient symptoms.

How will Professor Parson do this?

Professor Parson and his team will do this by generating and characterising a new transgenic mouse. The outcome of this work will focus the future development of novel therapies to target the above-mentioned blood vessel and any associated pathologies.

Why is it interesting to patients?

The generation of this mouse model will provide a crucial tool to work toward generating combinatorial therapies for people who live with SMA.