0:00
My name is Jose Bras.
I am a researcher at the Institute
of Neurology at UCL in London.
And in this lecture, I'm going
to try and talk a little bit
about the genetic methods
that we're currently
using in the study of
neurological diseases.
0:15
So in neurogenetics,
we currently have
two main aims in the
study of disease.
The first one, I'd say, is when we
want to identify the genetic cause
of a condition when a condition is
seen as segregating in a family,
for example, and we don't know
which gene is causing the disorder.
So that's one of the
main goals that we have.
The second one is perhaps finding
genetic variants that modulate
the risk of an
individual by increasing
it or decreasing it to
develop a condition,
and also best genetic
variants that modulate
the progression of a disease.
And both these things
are incredibly important
and have widespread implications,
not just for the patients
themselves, but particularly because
they help us understand how and why
the disease starts and
how and why it progresses.
1:08
So in this lecture I'm going to
try and touch on three points.
I'm going to talk a little bit
about historical approaches
to understanding
genetics of disease.
I'm going to then go on to talk a
little bit about recent advances
in technology that have
really enabled us to do things
that weren't possible
a few years ago.
And as I go along, I'll try and talk
about how these technologies have
really allowed us to better
understand neurological disorders.
1:35
So on historical
approaches, there are many.
I'm going to focus on the two which
are probably the most known ones.
I'm going to just briefly go over
them, see how they were applied
to the understanding of disease,
and perhaps give a few examples
of success cases that we
had with those approaches.
The first one I'm going to
talk about is linkage mapping.
And this was widely used to
identify disease-causing genes,
namely when we had a disease
segregating in a family.
And the second approach
that I'm going to talk about
is candidate gene
association studies.
Here, the aim wasn't usually to
identify disease-causing genes,
but instead to identify
genes that were involved
in a disease, and not
necessarily causing it.
