JUN 20, 2019 01:30 PM PDT

Rapid Variant Modeling in a Hospital Setting

Speakers
  • 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' 


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