Dr. Charlotte Sumner provides an overview of targets for SMA therapies.

These are three of the broad strategies that have been used. (1), activating the gene itself, (2) altering the splicing of the SMN2 RNAs that arise from the SMN2 gene or, you know, replacing that SMN1 gene via gene therapy. There are of course other ideas regarding therapy as well. One could imagine if you could find ways to try and get that SMN protein to hang around longer, inhibit its degradation for example, would that be effective. And there have been some efforts to develop that kind of strategy. Finally, of course there are lots of things to consider that are independent of SMN. Can you find ways to prevent SMN deficient motor neurons from degenerating independent of increasing SMN protein. So these would be considered sort of neuro protective strategies. The idea would be to deliver these neurotrophic factors to a patient in the hopes that that would promote the health of motor neurons even if SMN itself isn't replaced. And of course you can't turn on the news anymore these days without hearing about stem cells and certainly it's an incredibly exciting time for that field in general. And it does raise enormous hopes for the possibility that we can replace cells that are dying in a disease like spinal muscular atrophy. But again, this represents a huge challenge. Motor nerve cells are cells that have a cell body that starts in the spinal cord and extends its exons, the wiring of the nerve as far as the big toe and so that's as long as a meter long. These are enormously long cells that have to track in a very specific pathway and course to its target muscle. So getting a cell to -- putting a cell back into the spinal cord and hoping that it will reconnect with its target muscle represents an enormous challenge.

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