» 8:30 am - 12:30 pm • Plenary Keynote Session
8:30 Chairperson's Opening Remarks
8:40 Recent Advances in Cancer Genome Sequencing
Richard K. Wilson, Ph.D., Professor of Genetics, Director, The Genome Institute, Washington University School of Medicine
Our laboratory was the first to sequence the genome of a cancer patient and discover genetic signatures relevant to the pathogenesis of the disease. Building upon this achievement, our current focus is to utilize genome sequencing and analysis technology to discover clues that will facilitate more effective diagnosis and treatment of cancer and other human diseases. This presentation highlights some of the recent accomplishments and impact of The Genome Institute's cancer sequencing program.
9:25 Making a Definitive Diagnosis: Successful Clinical Application of Diagnostic Whole Genome Sequencing
Elizabeth A. Worthey, Ph.D., Assistant Professor, The Human and Molecular Genetics Center, Pediatrics, Bioinformatics, Medical College of Wisconsin
We began deploying genomic sequencing in the clinic in the latter half 2009 to end a diagnostic odyssey in a specific child and continue to offer this service as a clinic to end such odysseys for other specific, very ill individuals being seen at the Children's Hospital and Health System of Wisconsin. So far we have received requests for clinical sequencing of more than 50 individuals. Eleven individuals have had their genomes sequenced; in a number of (but not all) cases a diagnosis has been rendered. Our approach to clinical whole genome sequencing, our analysis strategy and tools, and findings will be presented.
10:10 Networking Coffee Break in the Exhibit Hall with Poster Viewing
11:00 Can Genomes Improve Medical Outcomes?
Samuel Levy, Ph.D., Director of Genomic Sciences, Scripps Translational Science Institute and Scripps Genomic Medicine, Professor of Molecular and Experimental Medicine, The Scripps Research Institute
Pharmacogenomics and cancer benefit from the acquisition of DNA sequencing data in concert with relevant clinical phenotypes. The application of novel sequencing approaches in these areas enables the detection of molecular signatures that can be employed to determine appropriate treatment strategies that will positively impact medical outcomes.
11:45 RNA Editing – The Neo-Gold Rush of Diversity?
Robert Braun, Ph.D., Associate Director/Chair of Research, The Jackson Laboratory
RNA editing is a process that modifies RNA nucleotides and changes the efficiency and fidelity of the central dogma. Recent advances in sequencing have enabled the genome-wide identification of RNA editing sites in mammalian transcriptomes. We have demonstrated that tissue-specific canonical RNA editing (A-to-I and C-to-U) occurs in the mouse, and report that high-confidence canonical RNA editing sites can cause non-synonymous amino acid changes and are significantly enriched in 3? UTRs, specifically at microRNA target sites, suggesting both regulatory and functional consequences for RNA editing.