Cambridge Science Festival


FULLY BOOKED Genomes on a grand scale

DNA sequence
Tuesday 12 March 7:00PM - 9:00PM

How are the latest tools in genetics enabling scientists to discover the secrets held within the human genome? Find out how scientists are comparing thousands of human genomes and epigenomes to understand human variation and the genetics behind human disease. Drs Matt Hurles and Paul Flicek from the Wellcome Trust Sanger Institute and EMBL European Bioinformatics Institute will discuss their involvement in global collaborations for an evening all about ground-breaking genome science.

Matt Hurles will talk about his work on the UK10K project, one of the largest genome sequencing projects ever undertaken. The project is currently sequencing ten thousand human genomes from across the UK to understand more about human variation and to discover rare genetic variants behind diseases such as schizophrenia, autism and extreme obesity. He will also talk about his work on Deciphering Developmental Disorders (DDD), which aims to advance clinical genetic practice for children with developmental disorders using the latest genetic analysis techniques.

Paul Flicek will discuss results from BLUEPRINT, part of an international effort to map one thousand human epigenomes. Epigenetics is the study of modifications to DNA that do not change the base sequence – it is why some identical twins can look slightly different even though their genome sequences are the same. BLUEPRINT aims to learn more about how genes are switched on and off in healthy and diseased human blood cells. Paul will talk about how understanding the relationship between epigenetic and genetic information will further our understanding of human disease and provide new approaches to treatment.

The event will take place at the Wellcome Trust Genome Campus, Hinxton.