infants born with the most severe form
of SMA often don't make it to their
second birthday but researchers have
been studying how to fix this splicing
been studying how to fix this spliacing problem one solution is called Nusinersen it
enables SMA patients to make more SMN
protein but
how Nusinersen is a short sequence of RNA
that binds just after Exxon 7 in the
unedit RNA
message this tiny piece of RNA prevents
Exxon 7 from being skipped it is called
an anti-sense oligonucleotide or
ASO Exon 7 is now included in the edited
RNA message which in turn generates
fulllength functional SMN
protein by preventing xon 7 from being
skipped Nusinersen reverses symptoms in SMA
patients