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I'm Martin Tobin.
I'm Professor of Genetic
Epidemiology and
Public Health at the
University of Leicester and
I'll be talking about
the genetics of
Chronic Obstructive
Pulmonary Disease or COPD.
So before we start, I'll just
outline what I'll
cover in this talk.
I'll first introduce why we
undertake genetics research,
what it can tell us.
I'll then move on
to how we generate
evidence about
genetic determinants
of pulmonary diseases.
I'll give some
specific examples of
recent studies relating to
genomics as lung function and
COPD and then I'll move on to
discussion as to potential
future directions.
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So let's begin by describing
why we undertake
genetic research.
In general, we're
interested in studying
genetic associations
with disease or with
disease related traits, related
to susceptibility or
progression of disease for
example in order to
have evidence that
we can have confidence in
about disease mechanisms,
and that evidence in turn can
often be used in addition for
prediction to help us make
decisions about
future diagnostics,
potential new therapeutics
or therapeutics that
can be retargeted or
repurposed from other areas,
as well as evidence
about how to target
those treatments and
how to prevent disease.
So what is it about
genetic evidence that's
special in some way?
Well the issue is that
certainly in observational
epidemiology,
many associations
that we observe
be they between non-genetic
risk factors or
biomarker levels and disease are
often confounded and subject
to reverse causation.
Whereas genetic variants
are allocated by
an essentially random process
during gamete formation
and this means
that genetic
associations provide
particularly strong
evidence that we can have
additional confidence
in when we're actually
making important decisions
about what to prioritize,
for example for
drug development.
In fact, Nelson and colleagues
have shown that using
genetic evidence to support
drug targets actually
doubles the success rate
during drug development.
Whilst many of these goals of
genetics research do seem rather
grand and have come in for
some criticism that maybe
there is a degree
of hype there ,
we are now actually seeing
practical examples
coming through.
So on the next slide you
will see some examples
