Mutations: great and small

How has mutations helped us understand the genetic causes of disease and the processes that edit genomes?

One of the greatest surprises of human genetic research has been the degree to which healthy people vary in the number of genes in their genomes, as a result of gains and losses of large segments of DNA. Generating comprehensive maps of where these variants exist in our genomes has enabled us to identify large common genetic variants that influence our susceptibility to common diseases such as diabetes, as well as to discover large rare genetic variants that can cause a wide range of rare disorders. Dr Hurles will discuss how his investigations of this previously under-appreciated form of genetic variation have helped to shape our current understanding of both the genetic causes of disease, and the mutation processes that edit the genome as it is passed from one generation to the next.

As a post-doctoral research fellow in population genetics at the University of Cambridge, Dr Hurles was the first to establish the molecular mechanism underlying a recurrent deletion of part of the Y-chromosome, which causes male infertility. In 2003, Dr Hurles joined the Wellcome Trust Sanger Institute in Cambridge. Dr Hurles is currently coordinating efforts to apply genome-wide resequencing methods to improve the diagnosis of rare diseases and understand the factors influencing rates of germline mutation.

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