In today's talk, I'm going to discuss how molecular genetics has led us
close to an understanding of the mechanism by which Alzheimer's disease starts.
What I'm going to talk about mostly is about the analysis of families with
autosomal dominant disease and how they have given
us an insight into the disease mechanism in general.
The nice thing about genetics is that it allows you to put order into pathology,
the neuropathology of Alzheimer's disease and other diseases for that matter,
tells you how the end stage of the disease,
you see the results of the disease process,
but you can't see how it starts.
The good thing about genetics is it allows you to see exactly how the disease starts.
You see the mutant molecule which initiates the disease process.
And so genetics is complementary to neuropathology,
and so by studying both the genetics and the pathology of the disease,
you see the start and the finish of the process.
But the other thing about genetics,
which makes it particularly powerful is that it gives you a way of modelling the disease.
You can take the model,
the mutant gene that you discover,
and put that mutant gene into mice,
for example, and start to try and model the pathology of the disease in mice.
If you're successful, you'll be able to study the process of
the disease pathogenesis in a way that you can't do in humans.
It allows you to model the disease.
Of course, the other thing it allows you to do is
identify people who are going to get sick
of course, if you have ethical committee permission to do this.
You can look at individuals who are
mutation carriers and try and understand the earlier symptoms of the disease and so
refine the diagnostic categorization of disease make an earlier and better diagnosis.
So genetics is a very powerful tool both to study etiology and
pathogenesis and also to allow people to get better making earlier diagnosis.
Now, of course, the disease I'm going to talk about mostly is Alzheimer's disease.