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0:00
My name is Professor
Dame Pamela Shaw.
I'm a professor of neurology
and Director of the
Sheffield Institute for
Translational
Neuroscience (SITraN)
at the University of
Sheffield in the UK.
My lecture is going to discuss
a form of Motor
Neuron Disease or
Amyotrophic Lateral
Sclerosis (ALS) related to
mutations in the SOD1 gene.
I'm going to talk about
what work on SOD1 gene
has told us about motor
neuron degeneration.
0:38
I have no disclosures
relevant to this lecture.
0:43
In the lecture, I'm going
to cover these six areas.
First of all, I'm going to
introduce Motor Neuron Disease,
which I will
summarise as ALS/MND.
Next, I will talk
about the SOD1 gene
and its encoded protein.
I will talk about the
models that have been
generated for
SOD1-related ALS/MND.
I'll then discuss the
mechanisms that we understand
about motor neuron injury in
the presence of SOD1 mutations.
I'll briefly talk
about determinants
of fast and slow
disease progression
and in the final section,
I will discuss
therapeutic approaches
for this sub-type of MND,
including gene
therapy approaches.
1:35
By way of introduction,
just to remind you,
the medical condition of ALS/MND
was first described by a
French physician known as
Jean-Martin Charcot at the
Salpêtrière Hospital in Paris,
and he described the
clinical and pathological
features of ALS/MND,
as far back as 1869.