This track showcases breakthrough technology in genomic sequencing, application of next-generation sequencing technology and interpretation of genomic information for clinical applications and personalizing medicine.
Day 1 | Day 2 | Download Brochure
Wednesday, May 29
13:00 Registration
13:40 Chairperson’s Remarks
Marcel Dinger, Ph.D., Associate Professor, Head of Genome Informatics, Garvan Institute for Medical Research, The Kinghorn Cancer Center
13:50 Genomic Profiles of Asian Cancer Phenotypes
Patrick Boon Ooi TAN, M.D., Ph.D., Associate Research Professor, Institute for Genome Sciences & Policy
The incidence of cancer in Asia is rising, and in some countries cancer has already become the number one cause of disease-related mortality. However, cancers such as gastric, liver, and certain lymphomas which are frequently observed in Asia have significantly lower incidence rates in the West, likely reflecting population differences in lifestyle, environmental exposures, and distinct host susceptibility profiles. In this talk, I will describe our efforts to apply genomic analyses to a variety of Asian-specific cancer conditions, and how these technologies can rapidly illuminate new genes and gene variants related to cancer development and drug response.
14:10 Complexity of Mammalian Transcription Regulation as Analyzed in the ENCODE and FANTOM Projects
Piero Carninci, Ph.D., Director, Division of Genomic Technologies, RIKEN Center for Life Science Technologies
Cap-analysis gene expression (CAGE) detects simultaneously mRNA and noncoding RNA promoters and expression level. In the ENCODE project, CAGE has been instrumental to map active genomic regions, correlate chromatin marks to promoter activity and to identify subcellular localization of non-coding RNAs, providing hints to understand their function. In the FANTOM5 project, CAGE has provided the most comprehensive map of promoter, non-coding RNAs and regulatory regions in the large panel of human and mouse primary cells and tissues so far analyzed.
14:30 Whole Genome and Exome Sequencing in the Clinic: Lessons Learned
Marcel Dinger, Ph.D., Associate Professor, Head of Genome Informatics, Garvan Institute for Medical Research, The Kinghorn Cancer Center
We have recently established a genome sequencing facility that aims to provide clinical-grade whole genome and exome sequencing and interpretation to clinicians. In this presentation, I will provide an overview of our analyses to date, as well as discuss what we have learnt through this process, in terms of the technical, informatic, regulatory and ethical challenges that have been overcome and the challenges for clinical genomics in the future.
14:50 Q&A with Session Speakers
15:00 Refreshment Break in the Exhibit Hall with Poster Viewing
» KEYNOTE SESSION
16:00 Chairperson’s Remarks
Marcel Dinger, Ph.D., Associate Professor, Head of Genome Informatics, Garvan Institute for Medical Research, The Kinghorn Cancer Center
16:10 Sequencing the Faroe Islands – From Sequencing to Societal Implementation and Personalized Health
Bogi Eliasen, Program Director, FarGen, Ministry of Health, Faroe Islands
The FarGen project proposes to implement routine whole genome sequencing in healthcare for a whole society of 50,000 people, the Faroe Islands. The vision is to provide a cornerstone for optimal individualized healthcare with emphasis on prevention as well as treatment, cost effectiveness and democratic implementation on the road to personalized health with empowered citizens. It is also to provide a foundation and resource for national and international research and to develop a genomic healthcare model that has national and global compatibility and be a part of the development of precision medicine and personalized health.
16:40 Implementing Clinical and Research Trio Whole Genome and Exome Sequencing for Diagnosis of Rare Diseases
Jimmy Lin, M.D., Ph.D., MHS, Founder and President, Rare Genomics Institute; Research Instructor, Washington University St. Louis
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the US and globally, we have coordinated and facilitated NGS projects for rare disease. We will summarize what we learned from all these sites for the entire process from consent, sample collection, library prep, sequencing, bioinformatics, interpretation, counseling, and clinical reimbursement.
17:10 Panel Discussion: Genomics-Driven Precision Medicine
Moderator:
Nandita Mullapudi, Ph.D., Principal Scientist & Group Leader - Next Gen Sequencing Lab, Genotypic Technology Pvt Ltd
Panelists:
Bogi Eliasen, Program Director, FarGen, Ministry of Health, Faroe Islands
Jimmy Lin, M.D., Ph.D., MHS, Founder and President, Rare Genomics Institute; Research Instructor, Washington University St. Louis
Piero Carninci, Ph.D., Director, Division of Genomic Technologies, RIKEN Center for Life Science Technologies
Marcel Dinger, Ph.D., Associate Professor, Head of Genome Informatics, Garvan Institute for Medical Research, The Kinghorn Cancer Center
17:30 Dinner Short Course Registration
8:00 – 20:00 Dinner Short Courses (Separate Registration Required)
Day 1 | Day 2 | Download Brochure