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Genetic Variation in Human Disease: Methods for Discovery and Detection

This webinar is brought to you by the Science/AAAS Custom Publishing Office

Genetic Variation in Human Disease:  Methods for Discovery and Detection

Recorded 30 November 2011



Both large and small changes to DNA—collectively described as genetic variants—are known contributors to human disease. The detection and characterization of single nucleotide polymorphisms (SNPs) and copy-number variations (CNVs) are an important research focus for scientists. This webinar will introduce two leading technologies useful for discovering such genetic variants: targeted DNA resequencing and comparative genomic hybridization which, used together, are a powerful combination for both SNP and CNV detection.

During the webinar, our expert panel of researchers will:

  • Talk about best practices for applying these technologies to detect genetic variations
  • Share their experiences using these technologies in human disease research
  • Answer your questions live and in real time! 

For related technologies/products, go to: www.nimblegen.com/seqcap/

Speaker bios

Hakon Hakonarson, M.D., Ph.D.

Children's Hospital of Philadelphia
Philadelphia, PA

Hakon Hakonarson is an associate professor of Pediatrics at the University of Pennsylvania School of Medicine. He is a physician-scientist and director of the Children’s Hospital of Philadelphia’s Center for Applied Genomics (CAG), a high throughput, highly automated genotyping facility founded to identify the genetic causes of complex medical disorders in children, such as autism and cancer, with the objective of developing new therapies. Dr. Hakonarson completed his Ph.D. and M.D. degrees at the University of Iceland School of Medicine in Reykjavík. He has served previously in several senior posts in the biopharmaceutical industry, including as the director of Inflammatory and Pharmacogenomics Research and the vice president of Clinical Sciences and Development at deCODE Genetics, and chief scientific officer of its subsidiary, Encode. Dr. Hakonarson has also been the principal and co-principal investigator on several NIH-sponsored grants, and he has published numerous high-impact papers on genomic discoveries and their translations. With over 10 years of experience in pioneering genomics research and genome-wide mapping and association studies, Dr. Hakonarson has intimate knowledge of the complexities of large-scale genomics projects and has put together the necessary infrastructure and workflow processes to unravel these complexities.

Ray E. Hershberger, M.D.

University of Miami
Miami, FL

Ray Hershberger is a professor of Medicine in the Cardiovascular Division of the University of Miami Miller School of Medicine in Miami, Florida. He serves the Miller School as the Director of the Advanced Heart Failure Therapies Programs, and also directs the Translational Cardiovascular Genetic Medicine Program. Dr. Hershberger received his medical degree from the University of Nebraska College of Medicine and trained in internal medicine at the Washington Hospital Center in Washington, D.C. and the University of Kansas School of Medicine. He completed a three-year research fellowship at the University of Utah in Salt Lake City, Utah, in the cardiovascular receptor pharmacology, studying G protein-coupled receptor alterations in failing human ventricular myocardium. He completed clinical training in cardiology and cardiac transplantation, also at the University of Utah. Dr. Hershberger then joined the Oregon Health & Science University in Portland as a heart failure/heart transplant cardiologist, where he started the Familial Dilated Cardiomyopathy Research Project with central aims to discover the genetic basis of dilated cardiomyopathy and to translate those discoveries to the practice of cardiovascular medicine. The Project has led to numerous scientific articles, reviews, and guideline statements for the field. Dr. Hershberger’s current efforts have focused on exome sequencing and other methods to discover rare variant genetic cause of dilated cardiomyopathy.

Andrew J. Sharp, Ph.D.

Mount Sinai School of Medicine
New York, NY

Andrew Sharp received his Ph.D. degree at the University of Southampton, England, in 2003 under the mentorship of Dr. Patricia Jacobs, one of the founding investigators of modern human genetics. While writing his thesis he gained international recognition for his work on X-chromosome inactivation. He moved to The University of Washington, Seattle, where he completed his postdoctoral training with Dr. Evan Eichler. During this time he worked in the rapidly emerging field of structural variation in the human genome, producing some of the seminal research in this area and identifying several regions of the human genome that undergo recurrent rearrangement in human disease. Prior to moving to Mount Sinai Hospital in New York City, Dr. Sharp spent two and a half years at The University of Geneva, Switzerland, studying DNA methylation, an epigenetic modification that controls how our genes are switched on and off. Dr. Sharp is known as a world authority on the topic of structural genome variation. He is distinguished by the unique honor of having received both the Young Investigator Award for Outstanding Science from the European Society of Human Genetics, and the Trainee Award from the American Society of Human Genetics on two separate occasions. His research uses a bottom-up strategy that can be described as “reverse genetics,” which utilizes high-throughput techniques to study various aspects of the human genome and then links these observations to different diseases.

Sean Sanders, Ph.D.

Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. 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, before joining Science/AAAS in 2006. Currently Dr. Sanders is the Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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