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Hello, I'm Luc Dupuis.
I'm an Inserm Research Director
in Strasbourg, France,
and I will talk to you about
how large-scale genetics can be
used in neurodegenerative
diseases.
For this, I will
specifically take
the example of amyotrophic
lateral sclerosis.
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First, what is ALS?
ALS is clinically defined.
It's defined by the degeneration
of two neuronal types.
One is the upper motor neurons,
which are located in
the motor cortex.
The degeneration of
upper motor neurons
leads to hyperreflexia
and spasticity.
The other cell type that is
degenerating is
lower motor neurons,
which are located in
the brain stem and
in the spinal cord.
The degeneration of
lower motor neurons
leads to paralysis
and muscle weakness.
The paralysis that characterizes
ALS is progressive,
and it leads to death
within 3-5 years usually,
but it can be shorter
for some patients,
even six months of disease
progression for some patients.
It can be much longer for
a subset of patients,
up to 30 years of progression,
very heterogeneous progression.
The lifetime risk of ALS is
between 1 in 400 and 1 in 800,
meaning that one person out of
400 to 800 would die
of this disease.
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ALS epidemiology is shows
that it is a rare disease.
The incidence is 2-5 new cases
per 100,000 people per year,
which is similar to
multiple sclerosis.
However, the prevalence, meaning
the total number of cases,
is lower for multiple sclerosis.
This is due to the
poor prognosis
and the rapid progression
of ALS patients.
The total prevalence of ALS is
5-10 patients per
100,000 people.
It is the third most common
neurodegenerative disease
after Alzheimer's disease
and Parkinson's disease.
In France, where I'm based,
it actually involves
5,000-8,000 patients.
In France, there are
more patients dying of
ALS than people dying in
car accidents every year.
