SMA Beyond

The programme will include research training in the individual laboratories with regular exchanges between the different groups, time spent in industry and importantly, with patient organisations.

The scientific goal of this project is to test the effect of therapy on peripheral organs. SMA is primarily a nervous system disease caused by reduced levels of a protein called Survival of Motoneuron (SMN) protein, the adequate amount of which is essential for the health of lower motor neurons, the primary cells affected in SMA. However, SMN is also present in other cells and tissues and over the past few years, it has become increasingly clear that other organ systems may be affected by very low levels of this protein.

Although people living with SMA greatly benefit from available treatments, they face a precarious future as there isn’t yet a comprehensive landscape of vulnerable organs and no approved treatment for the periphery. The students will analyse defects in peripheral organs, evaluate organ-specific molecular and cellular functions of the SMN protein in relevant organs and translate these findings to SMA patient derived models, which will then be treated with a systemic SMA drug currently under clinical evaluation. This will allow a broad perspective of multiple organ systems in SMA.

SMA Europe is looking forward to feed in the perspective of people living with SMA at regular stakeholder meetings but also to integrate PhD students into activities which will teach them about patient-relevant issues.