24 janvier 2013: Dr Ewan Birney

Thursday, January 24th 2013, 12h30

Dr Ewan Birney
Associate Director of EMBL
European Bioinformatics Institute (EMBL-EBI)
Wellcome Trust Genome Campus Cambridge, UK


"The Impact of Genomics on Healthcare"
This decade will see increasing intensity of translational research for genomics and other molecular surveys and in some cases, implementation in practicing health care. Although there is considerable future promise, there is also a large amount of existing genetic usage in healthcare which allows us to understand how best to use this information.
In this talk I will present a brief overview of genomic work over the previous decade, including the human genome project, 1000 genomes and genome wide associations, and particularly focus on the ENCODE project where I played a leading role. I will then shift to the translational areas for genomics, highlighting 3 areas; Cancer, penetrant germ line variations and pathogen related health. I will in particular focus on penetrant germ line variation, drawing on the experience over the last 15 years in Familial Hypercholestrolemia (FH) and Hypertrophic Cardiomyopathy to help us understand the cost benefit of using genomics more broadly in health care for germ line variants.

Dr Ewan Birney is Associate Director of the EMBL-European Bioinformatics Institute (EMBL-EBI). He is one of the founders of the Ensembl genome browser and other databases, and has played a key role in many large-scale genomics projects, notably the sequencing of the Human Genome in 2000 and the analysis of genome function in the ENCODE project. He has been Lead Analysis Coordinator for ENCODE since 2007; he also coordinated data analysis in the "1% Pilot". Dr Birney has played a vital role in annotating the genome sequences of the human, mouse, chicken and several other organisms; this work has had a profound impact on our understanding of genomic biology. His research group currently focuses on genomic algorithms and inter-individual differences in human and other species. As Associate Director of EMBL-EBI, Dr Birney shares strategic oversight of EBI services with Rolf Apweiler (co-Associate Director). EMBL-EBI hosts some of the world’s most important collections of biological data, including DNA sequences, the genomes of animals and plants , three-dimensional molecular structures, data from gene expression experiments, Protein mass spectroscopy, small molecules of biological interest,their drug/protein target interactions and pathways. Many of these resources are developed in close collaboration with our patners at Swiss Institute of Bioinformatics, Sanger Institute, and Ontario Institute for Cancer Research. The EBI leads the European Elixir project which aims to broaden and deepen these relationships in Europe to provide an stable bioinformatics infrastructure that works well in the national, transnational and international contexts. As well as these strategic aspects, Ewan Birney still does research, working on aspects such as DNA Compression, Functional genomics analysis (eg, a recent paper with the Furlong lab) and using inter individual differences to understand basic biology (eg, a paper of CTCF binding in two families).