Genetic basis of neurological disease

Published on July 1, 2014   34 min

A selection of talks on Neurology

Please wait while the transcript is being prepared...
So I'm Nicholas Wood. I'm Galton Professor of Genetics here at UCL. And I'm going to talk about the genetic basis of a neurological disease. My background is a mix of clinical work and academic work. And my group are involved in trying to understand, as the title suggests, the basis of a range of neurological diseases.
So to start this lecture, I just want to put up a very basic slide here, really describing the basis of almost any trait. Of course I want to concentrate on the neurological ones. But you can divide them in a number of ways. You can have classical Mendelian inheritance, non-Mendelian, and then a slight after thought, is the chromosomal rearrangements. The chromosome rearrangements often give rise to other boutique and specific syndromes. And I'm not going to be talking about those at all today. However what has become increasingly important for a range of neurological and neuropsychiatric conditions is the fact that we have various numbers of genes. So copy number variation is becoming more prominent. But most of this talk is concerned with the Mendelian and non-Mendelian factors. And I'm going to illustrate these predominantly with Parkinson's disease, which nicely is a model for these two concepts.
And if one bears this in mind, if one's to solve the genetic architecture of a given trait, there are two basic forms of analysis. You can take linkage, which really is a classical way of finding Mendelian traits. These are high penetrant traits which can be mapped in individual families. And then you have association studies, which are a very powerful method for getting a hold of lower impact variance.