MAY 12, 2016 3:00 PM PDT

Using big data to interpret genomes for diagnostics, therapeutics, and precision medicine

Speaker
  • Assistant Professor, Director of Clinical Genome Informatics, Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mou
    Biography
      r. Chen is Director of Clinical Genome Informatics (http://rongchenlab.org) at Icahn Institute of Genetics and Multiscale Biology. His research focuses on developing databases, genome repositories, and clinical applications to interpret personal genomes for clinical diagnosis, precision medicine, predictive disease risk, and novel therapeutics.

      Prior to Mount Sinai, he led the collaborative efforts at Stanford University to drive personalized medicine and clinical diagnosis on Mendelian and complex diseases using genome and exome sequencing. Dr. Chen also helped launch a startup company Personalis, which won the VA's contract for the Million Veteran Genome project.

      Dr. Chen has a broad interest in translational bioinformatics and genome interpretation, and has published over 80 papers in Lancet, Cell, Nature Biotechnology, Nature Methods, Science Translational Medicine, PNAS, AJHG, JCI, PLoS Genetics, PLoS Computational Biology, Genome Research, Genome Biology, Genome Medicine, and AJT. He holds numerous patents for software and databases on personalized medicine, diagnosis, and structure modeling.

    Abstract

    Millions of individuals have been sequenced or genotyped and linked with medical records, providing an exciting opportunity for therapeutic target discovery. My lab has been using a resilience approach to learn from success instead of failure, and analyzed hundreds of thousands of genomes with electronic medical records to drive target discovery for childhood Mendelian diseases, Alzheimer’s disease, and cardiovascular traits.

    I will describe how we analyzed 589,305 genomes and identified 13 genetic super heroes who carry fully penetrant childhood Mendelian diseases but are healthy in our recent resilience project, and how we decoded individuals who carry APOE e4/e4 risk variants but are resilient for Alzheimer’s disease. I will further describe how we analyzed individuals who have a loss of gene but carry favorable cardiovascular traits, identified potential therapeutic targets to lower fasting glucose levels, and validated the effects in mice.

    Learning objectives:

    • How to interpret genetic variants using 150,000 genomes from diseased and healthy cohorts, and variants with validated molecular functional impact from 30 million literature.
    • How to use resilient approach to interpret thousands of genomes with medical records for therapeutic target discovery.

    Show Resources
    You May Also Like
    SEP 10, 2020 9:00 AM PDT
    C.E. CREDITS
    SEP 10, 2020 9:00 AM PDT
    Date: September 10, 2020 Time: 9:00am (PDT), 12:00pm (EDT) Osmolality testing is relevant throughout the entire bioprocessing workflow. As customers look to refine mAb and gene therapy workf...
    OCT 29, 2020 6:00 AM PDT
    C.E. CREDITS
    OCT 29, 2020 6:00 AM PDT
    Date: October 29, 2020 Time: 6:00am (PDT), 9:00am (EDT), Chronic inflammation can occur as a result of a combination of genetic predispositions and environmental factors. Epigenetic modifica...
    NOV 18, 2020 8:00 AM PST
    C.E. CREDITS
    NOV 18, 2020 8:00 AM PST
    DATE: November 18, 2020 TIME: 08:00am PDT We develop and implement technologies to solve some of the major bottlenecks in biomedical research. In particular, we establish new imaging approac...
    NOV 16, 2020 8:00 AM PST
    C.E. CREDITS
    NOV 16, 2020 8:00 AM PST
    Date: November 16, 2020 Time: 8:00am (PST), 11:00am (EST) CRISPR screening has become the prime discovery tool in modern biomedical research and drug discovery. At the same time, most screen...
    C.E. CREDITS
    This drug development program is designed to create a family of broad-spectrum, pan-coronaviral drugs that respectively inhibit multiple key enzymes required for viral replication. By target...
    SEP 03, 2020 9:00 AM PDT
    C.E. CREDITS
    SEP 03, 2020 9:00 AM PDT
    DATE: September 3, 2020 TIME: 09:00am PT, 12:00pm ET xxx Learning Objectives: xxx Webinars will be available for unlimited on-demand viewing after live event. LabRoots is approved as a provi...
    Loading Comments...
    Show Resources
    Attendees
    • See more