CNVs vs SNPs: Understanding Human Structural Variation in Disease Event Date: July 16, 2008 12:00 Noon Eastern Time; 9:00 a.m. Pacific Time, 4 p.m. GMT Brought to you by the Science/AAAS Business Office   Submit your questions now to the panelists by sending an e-mail to: webinar@aaas.org Please keep your questions short and to the point to give them the best chance of being asked. Questions will be put to the experts during the webinar.   Real Player   Real Media Video (56k/150k)   Windows Media Player   Windows Media Video (56k/150k)     Genetic variation—differences in both the coding and noncoding portions of our DNA—is what makes each human being a unique individual. It also can determine our unique susceptibility to disease. Exhaustive analysis of human single nucleotide polymorphisms (SNPs) has led to the identification of interesting SNP markers for certain disorders. But these small changes are not the whole picture. Copy number variations (CNVs)—gain or loss of segments of genomic DNA relative to a reference—have also been shown to be associated with several complex and common disorders. Using array-based comparative genomic hybridization (CGH) techniques, CNVs at multiple loci can be assessed simultaneously allowing for their identification and characterization. CNV microarrays allow exploration of the genome for sources of variability beyond SNPs that could explain the strong genetic component of several of these disorders. Now, advances in microarray probe density have provided more comprehensive coverage of CNVs, enabling more in depth genotyping research. In this webinar, our panelists will: Provide a general introduction of SNP and CNV technologies Discuss how these technologies can be applied in disease research Share data on recent CNV studies using CGH techniques Answer your questions live!   Speakers: Charles Lee, Ph.D., FACMG Department of Pathology Brigham and Women's Hospital Boston MA Dr. Lee received his doctoral degree from the University of Alberta, Canada in 1996 and was subsequently a National Sciences and Engineering Research Council of Canada (NSERC) research fellow at the University of Cambridge, UK from 1996-1998. He then completed his Clinical Cytogenetics fellowship at Harvard Medical School from 1998-2001, and became board certified by the American Board of Medical Genetics in 2002 in Clinical Cytogenetics. Dr. Lee is currently the Director of Cytogenetics for the Harvard Cancer Center, Associate Professor in Pathology at Harvard Medical School, and an Associate Member of the Massachusetts Institute of Technology (M.I.T.) Broad Institute. He has authored or coauthored over 90 publications in journals such as Nature, Science, Cell, PNAS USA, and Nature Genetics and is currently a member of the American Society of Human Genetics Program Committee, Advisory Council for Human Structural Genetic Variation (NHGRI/Wellcome Trust), and the International 1000 genome project. Dr. Lee’s laboratory initially reported widespread structural variation (in the form of copy number variants, CNVs) in the human genome in 2004. In 2007, Science magazine announced human genetic variation as the breakthrough of the year and in 2008, at the age of 39, Dr. Lee became the youngest recipient of the Ho-Am Prize in Medicine (also referred to as the "Korean Nobel Prize") for his pioneering work in this field. Lars Feuk, Ph.D. The Centre for Applied Genomics The Hospital for Sick Children Toronto, Ontario After obtaining a masters degree in Molecular Biology at Gothenburg University in Sweden, Dr Feuk went on to complete his Ph.D. in functional genomics at the Center for Genomics and Bioinformatics at the Karolinska Institute in Stockholm, Sweden. His postdoctoral training was carried out in Dr. Stephen Scherer’s lab in the Program in Genetic and Genome Biology at the Hospital for Sick Children, Toronto, Canada. Since 2006, Dr Feuk has been a research associate in the same department and the current focus of his research is understanding the full spectrum of human genetic variation, particularly as it relates to copy number variation. Since 2004, Dr Feuk has also been curator of the Database of Genomic Variants, the most widely used database for information on structural genetic variation. He has co-authored multiple high-ranking papers in the field of copy-number variation and has won several awards and scholarships, including a fellowship from the Canadian Institute for Health Research and the Andrew Sass-Kortsak Award for outstanding achievements during a fellowship at The Hospital for Sick Children. Last year, Dr Feuk was featured in Genome Technology magazine as one of “Tomorrow’s PIs”, and in 2008 he was selected as one of twenty “Future Research Leaders” by the Swedish Foundation for Strategic Research. Alexandra I Blakemore, Ph.D. Division of Medicine Imperial College London United Kingdom Dr. Blakemore completed both her undergraduate and graduate training at the University of Sheffield in the United Kingdom, obtaining her Ph.D. in the Department of Molecular Biology and Biotechnology in 1990. Following an initial faculty post at Sheffield Hallam University, she joined Imperial College London in 2001, where she pursued her interest in the genetics of metabolic and inflammatory conditions. She was the first in the UK to offer mutation testing for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Following on from single nucleotide polymorphism (SNP) and variable number tandem repeat-based association studies of cytokine and adipokine receptor genes, she is now focused on analysis of genomic copy number variation (CNV), and has carried out high resolution comparative genomic hybridization (CGH) studies of normal and abnormal subjects, identifying novel CNVs, determining their breakpoints and mechanistic origins, and validating methodologies for their high throughput screening. Dr. Blakemore is currently Senior Lecturer in Human Molecular Genetics and Chair of the Metabolic and Endocrine Technology Network at Imperial College London and is a member of the Council of the British Society for Human Genetics.   Moderator: Sean Sanders, Ph.D., Commercial Editor, Science/AAAS Sean Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. under Sir Dillwyn Williams at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor in 2004 before recently taking the position of Commercial Editor at Science/AAAS.   ___________________________________________________________________________________________________   Test Your System   Help   Download Real Player   Download Windows Media Player