IBCS seminar - ‘The remote control of gene expression: enhancer function in development and disease’

Biog & Summary
Whilst we have the technical ability to sequence human genomes at scale, we lack the knowledge to understand what most of that sequence does. Most of the human genome (>90%) does not contain protein-coding genes and there are vast tracts of inter-genic space. Much of that genomic space contains enhancers that regulate the expression of genes in time and space. In contrast to the 20,000 or so genes in our genome, there may be hundreds of thousands, or even millions, of enhancers. Remarkably, enhancers can be found as far away as 1 megabase from the target gene whose expression they control, and they can also be embedded in the introns of other genes several genes away from their target gene. In the face of this regulatory complexity how can we understand the functional significance of genetic variation in the non-coding genome? 

Wendy Bickmore is Director of the MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at the University of Edinburgh. She is fascinated by the three-dimensional organization of the human genome in our cells and how that influences genome function in health and disease. Wendy is a Fellow of; the Royal Society, the Royal Society of Edinburgh and of the Academy of Medical Sciences. She is also a member of the European Molecular Biology Organization. She was the president of the Genetics Society of Great Britain from 2015 to 2018.