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RNAi for Neurological Diseases.
My name is Beverly Davidson.
I work at the Center for
Cell and Molecular Therapy
at the Children's
Hospital of Philadelphia.
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I'm going to talk today
about RNAi interference
for repeat expansion diseases.
Shown is a schematic of a gene
indicating a disease repeat
sequence in the location of
the repeat within the gene.
For example, all but
one CAG repeat, SCA12
is in the protein coding region.
These, therefore, encode
polyglutamine in the disease
containing proteins.
Other repeats, for example
the GAA in Friereich's Ataxia,
is in a non-coding region, in this
instance, in the intronic region.
There are examples of other repeats,
for example CTG repeats in three
prime UTRs in mitotic
dystrophy, also known as DM1.
And also CGG repeats
in the Fragile X locus.
These occur in the five prime UTR.
Purposes of today's talk, I'm
going to focus on the repeat
expansion diseases that are due
to polyglutamine expansion, or CAG
repeat expansion, in the
genes that, when mutated,
caused the diseases known
as spinocerebellar ataxia
or SCA type one, type
two, type six, type
seven, or Huntington's
disease, denoted here as HD.
I will only be presenting data
on SCA1 and Huntington's disease
today, although in my
laboratory work on all of those
that are highlighted below.