MENU
JUN 20, 2019 1:30 PM PDT

Rapid Variant Modeling in a Hospital Setting

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Associate Director of Clinical Genomics Research, Rady Children's Institute for Genomic Medicine
    Biography
      Matthew is the Associate Director of Clinical Genomics Research, Rady Children's Institute for Genomic Medicine, where he leads a lab that focuses on increasing the diagnostic rate by incorporating novel analysis methods of WGS data and close integration of in vivo model systems with the clinic. He first trained in next generation sequencing in 2005 at the BC Genome Sciences center where he wrote the first analysis packages for NGS ChIP-seq and RNAseq data. Subsequently, Matthew worked under Dr. Richard Gibbs at the Human Genome Sequencing center in Houston, Texas where he helped launch the first clinical exome sequencing tests.

    Abstract

    Implementing precision genomic medicine in the pediatric acute care setting has several challenges.  First, the diagnosis must be made quickly.  Second, the determination of pathogenicity must be accurate. Third, there must be a specific effective treatment for the child.  

    At Rady Children's institute for Genomic Medicine we have pioneered extremely rapid sequencing, combined with natural language processing of the electronic medical record, and automated analysis tools to help speed time to diagnosis.  We have also begun rapid modeling of variants of uncertain significance in animal model systems in order to interrogate their pathogenicity.  Finally, we can utilize these animal model systems to test different drugs to either establish a therapeutic regimen for the patients when therapies exist or to discover or repurpose existing compounds where there are no therapies.

    Learning Objectives: 

    1. Understand challenges to implementing precision medicine in an acute care setting
    2. Understand how model systems are critical for solving the 'VUS problem' 


    Show Resources
    You May Also Like
    APR 07, 2020 8:00 AM PDT
    C.E. CREDITS
    APR 07, 2020 8:00 AM PDT
    DATE: April 7, 2020 TIME: 8:00am PT, 11:00am ET This webinar sets out to establish why quality control is key to robust, reliable, reproducible science. We will look at best practice criteri...
    MAY 08, 2020 10:00 AM PDT
    C.E. CREDITS
    MAY 08, 2020 10:00 AM PDT
    DATE: May 8, 2020 TIME: 10:00am PT, 11:00am MT, 1:00pm ET The application of next generation sequencing to interrogate immune repertoires and methods in which these highly complex dataset...
    FEB 26, 2020 9:00 AM PST
    C.E. CREDITS
    FEB 26, 2020 9:00 AM PST
    DATE: February 26, 2020 TIME: 9:00am PST 3D cell culture and analysis and the study of organoids and spheroids are becoming more prevalent as a research method in publications as traditional...
    OCT 08, 2020 7:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    OCT 08, 2020 7:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: October 8, 2020 TIME: 7:00am PDT, 10:00am EDT, 4:00pm CEST How often do you pipette in your cell culture lab every day? Usually, we do it so often that we tend stop thinking about ho...
    JUN 17, 2020 1:30 PM PDT
    C.E. CREDITS
    JUN 17, 2020 1:30 PM PDT
    Understanding the complex interplay between a pathogen and the host response is important to developing effective vaccines and therapeutics. The nCounter® Analysis System and GeoMx®...
    JUN 09, 2020 3:00 PM CEST
    C.E. CREDITS
    JUN 09, 2020 3:00 PM CEST
    DATE: June 9, 2020 TIME: 6am PT, 9am ET, 3pm CEST The importance of disposable plastic consumables and their overall impact on the experimental workflow of qPCR has been taken into considera...
    Loading Comments...
    Show Resources