Alternative RNA Splicing Therapy for Spinal Muscular Atrophy


I think what is surprising and is a frontier that I find very promising is we now understand how diseases are
related to alternative splicing and to mutations that affect
alternative splicing. We understand that we can make small,
unusual structured drugs called oligonucleotides, which is the
same material DNA is made out of by and large, and introduce that into cells and
shift the splicing process. And if we can shift splicing process,
then we should be able to control some of the changes due to
mutations in disease processes. One very elegant way to treat SMA
is to try and alter that process of alternative splicing of exon 7
of these RNAs that arise from SMN2. And in fact in that way, you would
convert all of that truncated form of that RNA that’s useless and
it makes a useless protein. If you could convert all of that to a
full-length transcript and make all that full-length transcript
make normal SMN and protein, you could imagine that would be a very powerful
way to basically restore the SNM2 gene to the function of what
an SMN1 gene would do. And so that’s been another major push in the field to try and
identify ways to alter this balance of including exon 7.

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