| Genomic Disorders 2012: The Genomics of Rare Diseases | |
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United Kingdom - Cambridge - Hinxton |
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| Hosted by: | Wellcome Trust Scientific Conferences |
| Venue: | Wellcome Trust Conference Centre, Wellcome Trust Genome Campus |
| Dates: | Mar 21, 2012 through Mar 24, 2012 |
| Event Registration: | 2012-01-01 through 2012-02-22 |
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Description |
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| Building on the success of the annual Genomic Disorders meetings held at Hinxton since 2007, Genomic Disorders 2012 presents an exciting blend of genomic science and clinical medicine. Our meeting aims to bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects. This year’s meeting will discuss the latest findings relating to the genomic basis of rare disorders, and the role of rare variants in common disease, as these can provide such powerful insights into human biology. Genome wide analyses, including most recently Whole Exome Sequencing, are proving to be of great value in discovering the genetic basis of rare disorders and illustrate the power of humans as a model organism to study. As sequencing technology advances apace, other key aspects of genome science need to develop and grow in parallel. These include: analysis (interpretation of sequence and copy number variants including assessment of clinical and biological impact and the elucidation/discernment of what constitutes medically actionable variants), ethics (what to do with incidental findings generated by whole genome research studies) and policy (stewardship and access to genomic data in research and healthcare); GD2012 will feature scientific sessions in these key areas. The meeting will take place at the Wellcome Trust Conference Centre, in the convivial setting of the Hinxton Genome Campus where some of the world’s leading scientists can discuss advances in their field and learn about recent progress in others. Scientific organisers Nigel Carter, Wellcome Trust Sanger Institute, UK Helen Firth, Cambridge University Dept. of Medical Genetics, UK Matthew Hurles, Wellcome Trust Sanger Institute, UK Jim Lupski, Baylor College of Medicine, USA Invited Speakers Joanna Amberger, Johns Hopkins University, USA Leif Andersson, Uppsala University, Sweden John Belmont, Baylor College of Medicine, USA Jonathon Berg, University of North Carolina, USA Han Brunner, Radboud University Nijmegen Medical Center, The Netherlands Richard Durbin, Wellcome Trust Sanger Institute, UK Sian Elland, Royal Devon & Exeter Foundation Trust, UK Jan Friedman, University of British Columbia, Canada Richard Gibbons, University of Oxford, UK Judith Goodship, Newcastle University, UK Karen Heath, Hospital University La Paz, Spain Joe Hiatt, University of Washington, USA Sam John,University of Washington, USA Alistair Kent, Rare Disease UK and Genetic Alliance UK Wigard Kloosterman,University Medical Center Utrecht, The Netherlands Daniel MacArthur, Wellcome Trust Sanger Institute, UK Donna Maglott, NIH, USA Ryan Mills, University of Michigan Medical School, USA Stefan Mundlos, Max Planck Institute, Germany Stephen O’Rahilly, University of Cambridge, UK Ried Pyeritz, University of Pennsylvania, USA Peter Robinson, Charité - Universitätsmedizin Berlin Luke Ward, MIT, USA Caroline Wright, Wellcome Trust Sanger Institute, UK |
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| Additional Information | |
| Event URL: | http://registration.hinxton.wellcome.ac.uk/display_info.asp?id=273 |
| ISCB Member Discount: | None |
| Contact Person: | Jemma Beard ([javascript protected email address]) |
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