What we know is that low levels of the protein SMN, Survival Motor Neuron, cause SMA, and we know that SMN forms a complex with RNA in all cell types. In motor neurons SMN is found in two different types of complexes. It is found in complexes in the nucleus, and it is found in complexes out in the axon. So we know that the low levels of SMN cause motor neurons to die, but what we do not know at this point is what is the critical function of SMN in the motor neuron. Is it dysfunction up in the nucleus or is it some specialized function to motor neurons, which are out in the axon? It could very well be that SMN is essential in both of these places for function of the motor neurons. This is still an open debate in the SMA research field, and a number of presentations yesterday, addressed these questions.

FSMA has taken a three-pronged approach in its research activities. The first is the funding of basic research grants. The second is to fund drug discovery efforts, and we have some substantial work going on with deCODE genetics, the third area – funding clinical testing, and the development of testing protocols for drugs that may come down the line. To address these activities FSMA is funding 29 basic research grants in 2005 alone, one of the major roles is try to elucidate the biological basis of SMA. This is really important because this will guide all the therapeutic strategies. When developing therapies we want to take a rational approach, and in order to do that you need to have a good understanding of what the molecular basis of the disease is. Another thing we would like to understand is how SMN expression is regulated because we know that low levels of SMN cause SMA, so if we understand how it is regulated, we can manipulate those pathways in order to cause more SMN to be produced. This is a basic drug discovery strategy. FSMA also funds research that assesses new potential SMA therapies. The current therapies have been focused on increasing SMN levels, but there may be other ways to mitigate SMA symptoms, and I think it is very important to explore this through basic research.
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Slides from the research update can be found here (PowerPoint file)