Bilkent University
Department of Computer Engineering


The Impact of Genomics on Healthcare


Ewan Birney, Ph.D

Associate Director, European Bioinformatics Institute, Hinxton, UK

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.

Bio: 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 as the Lead Analysis Coordinator since 2007. 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. He was awarded the Francis Crick Lecturer by Royal Society in 2003, Chris Overton Prize by ISCB, and Benjamin Franklin Award in 2005. In 2012 he was also elected Fellow of the European Molecular Biology Organisation (EMBO).


DATE: 28 February, 2013, Thursday @ 14:40