#LivefromLucy: 'Studying genetics to understand common diseases’ with Dr Laura Fachal

Wed 18 November 2020

Lucy Cavendish College

It has already been 30 years since the Human Genome Project was launched. Through its completion in 2003, we learned how many genes humans have and where they are located. It also allowed us to identify more than 3 million human genetic variations and since then, researchers have been studying how these variants can contribute to disease risk. We had 'cracked' the genetic code way before the project was completed, so when these variants are located in genes, the parts of the genome that contain the instructions to build the proteins, we could predict the consequences. However, at that time, we were unaware of the rules that govern the other 99% of the genome. We are now at a stage where we are beginning to understand the complexity of what is known as non-coding genome, and the consequences of genetic variants in these regions.

This fascinating talk will focus on how we identify which variants contribute to the development of common diseases, how we study the mechanisms by which they modify disease risk, and the potential direct and indirect uses of this knowledge on human health.

About the speaker

Dr Laura Fachal studied the role of common genetic variation in the development of radiation induced toxicity during her PhD. She came to the UK as a postdoc with a Marie Sk?odowska-Curie IF Fellowship to work at the University of Cambridge. Dr Fachal's work there was to determine, through fine mapping approaches, how common variations increase the risk of developing breast cancer risk and radiation induced toxicity. Since then, she has become particularly interested in understanding the biological mechanisms by which genetic variation affects complex phenotypes. Her current postdoctoral role at the Wellcome Sanger Institute focuses on inflammatory bowel disease.

Please register to receive Zoom joining instructions for this event. This event is free and open to all.

Cost: Free