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Genetic methods in the study of neurological diseases: the genetic basis of neurological disorders
Published on July 1, 2014 38 min
Other Talks in the Series: The Genetic Basis of Neurological Disorders
Neurodegenerative disease: the medical imperative for the developed world
- Prof. John Hardy
- Institute of Neurology, University College London, UK
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.
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.
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.
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.