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Monday, May 03, 2010
8:00 AM - 10:00 AM |
| Session Number: 3050 |
| Genetic Mapping in Humans |
| PAS State of the Art Plenary |
| Vancouver Convention Centre ~ West Ballroom C |
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| Target Audience: Scientists and clinicians, including practicing general pediatricians, specialists, geneticists, and genetic counselors. |
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| Objectives:
- Understand that most childhood diseases have a strong genetic basis and many are polygenic (influenced by the combined effects of many different genetic variants)[br]- Recognize that different types of genetic variants contribute to disease, and to understand the methods that are used to map each type of genetic variant[br]- Understand the impact of new genetic tools on disease gene mapping such as genome-wide searches for copy number variation, genome-wide association studies, and next-generation sequencing[br]- Understand the likely impact of genetic discoveries for prediction and for leading to biological insights |
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| Chairs: Joel N. Hirschhorn, Children[apos]s Hospital Boston, Boston, MA and Jeffrey C. Murray, University of Iowa, Iowa City, IA |
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| The last few years have seen a revolution in human genetics. Genome-wide association studies have identified hundreds of genetic loci that contribute to common diseases and traits. Genome-wide searches for alterations in copy number have uncovered structural variants that contribute to diseases such as autism and schizophrenia. These discoveries have opened new windows into human biology and may be the first steps on potential therapeutic paths for several diseases. Next generation sequencing promises to enable the discovery of rare sequence variants that increase or decrease the risk of disease. Despite this rapid progress, only a small fraction of the inherited risk of most diseases has been accounted for. Questions remain as to what method(s) will be most fruitful in mapping additional disease gene variants that account for the remaining genetic risk, and whether genetic data will provide predictive information that is clinically useful for common, polygenic diseases. |
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Jeffrey C. Murray
University of Iowa, Iowa City, IA |
| 8:00 AM - |
Gene Mapping for Polygenic Traits Using Association Studies and Sequencing
Joel N. Hirschhorn
Children[apos]s Hospital Boston, Boston, MA |
| 8:30 AM - |
Mapping of Genes for Neonatal Phenotypes
Jeffrey C. Murray
University of Iowa, Iowa City, IA |
| 9:00 AM - |
Homozygosity Mapping, Exon Capture and NextGen Sequencing To Discover New Pediatric Disease Genes
Friedhelm Hildebrandt
University of Michigan, Ann Arbor, MI |
| 9:30 AM - |
Genomic Disorders
James R. Lupski
Baylor College of Medicine, Houston TX |
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