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EMBL Forum Lectures

Dr. Jan Korbel, EMBL Heidelberg, Germany

Friday, March 15, 2013 at 14:00 in the Chadwick Amphitheatre, Institute Laue Langevin, Grenoble

Dr. Jan Korbel, EMBL Heidelberg, Germany

The personal genome: promise and implications

Who wants to read your DNA?

It is now possible to sequence someone’s entire genome for around 1,000 euros, and a rush to collect sequence data from large samples of the population has started.

While this quiet revolution in medical research is helping crack the mechanisms of diseases and understand their genetic context with unprecedented speed, it also poses some serious ethical questions: How would you feel if your genetic information was accidentally leaked? If you learnt that your parents weren’t really your parents, or that your were predisposed to develop Alzheimer’s disease? What if your life insurance company demanded access to your genetic information to estimate your payments?

In other words, what are the promises and limits of personal genomics?

Come and hear the perspective of Jan Korbel, a leading expert in the field of human genome sequencing, at EMBL Grenoble’s second Science and Society seminar.

Important: Please contact Emmanuelle (bensaude@embl.fr) for site entry.

Abstract

The presentation I will give in Grenoble will cover research from my group at the European Molecular Biology Laboratory in Heidelberg, where I am since 2008. Our group focuses on understanding the mechanisms and impact of formation of alterations in our genetic code. Our research is connected with international collaborative projects that are presently charting human genetic variation in healthy individuals as well as in those suffering from diseases. Specifically, our group participates in the 1000 Genomes Project, an international effort to map genetic variation – including structural variations and single nucleotide polymorphisms – in ~2500 healthy individuals (see 1000genomes.org). We are furthermore involved in the International Cancer Genome Consortium (ICGC), an effort to identify mutations associated with several forms of cancer by sequencing whole tumor genomes of hundreds of patients, specifically prostate cancer and pediatric brain tumor patients (see icgc.org). We have also begun to sequence the genomes of individuals with advanced cancer to learn about the biology of metastasis formation, genetic heterogeneity of cancer, and to investigate whether by sequencing cancer genomes clues about possible treatments can be obtained. With my group’s involvements in human genome sequencing I also became interested in discussing implications of personalized genome sequencing for society and the future of medicine. Since 2010 I have been participating in the Marsilius Kolleg of Heidelberg University – a centre for advanced study that promotes interdisciplinary dialogue and research, specifically discussions on implications of human genome sequencing (e.g., biomedical fields and the humanities; see www.marsilius-kolleg.uni-heidelberg.de/mission). My talk on the personal genome will cover results from my latest research related to the personal genome, and I will summarize and discuss current views of the expectations and implications of human genome sequencing for science and society.

Biography

Jan Korbel: After University studies in Biotechnology at Technical University Berlin I obtained my PhD from EMBL Heidelberg and from the Humboldt University Berlin in 2005, following doctoral studies in computational molecular biology with Dr. Peer Bork. The main topic of my PhD thesis was the inference of protein functions by examining the genomic context of genes in bacterial genomes. Subsequently, I joined Dr. Mark Gerstein’s group at Yale University in New Haven (Connecticut) as a postdoc. The main focus of my work at Yale, which involved a close collaboration with Dr. Michael Snyder’s group, was research on large-scale variations in the human genome – so called genomic structural variants (or copy-number variants). Specifically, I began using new high-throughput sequencing technologies to measure the extent of genetic variation in healthy individuals and in such suffering from diseases. In 2008, I moved back to EMBL Heidelberg where I became an interdisciplinary groupleader working in genomics and computational biology. My EMBL group presently focuses on understanding the impact and the de novo formation mechanisms of genomic structural variants in the genome. Our research is connected with international collaborative projects that are presently charting human genetic variation in healthy individuals as well as in such suffering from diseases. Specifically, our group participates in the 1000 Genomes Project, an international effort to map genetic variation – including structural variations and single nucleotide polymorphisms – in ~2500 healthy individuals. We are furthermore involved in the International Cancer Genome Consortium, an effort to identify mutations associated with several forms of cancer by sequencing whole tumor genomes of hundreds of patients, specifically prostate cancer and pediatric brain tumor patients. With my group’s involvements in human genome sequencing I also became interested in discussing implications of personalized genome sequencing for medicine and society. For example, since 2010 I have been participating in the Marsilius Kolleg of Heidelberg University – a centre for advanced study that promotes interdisciplinary dialogue and research, specifically discussions on implications of human genome sequencing involving scientists from diverse disciplines (e.g., biomedical fields and the humanities).