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Conference Program

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Industry Platforms

14 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 714/16
Laboratory Genetics & Genomics , Clinical Genetics and Therapeutics
  • Accredited:
    • Not Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O34 - Utility of Targeted RNA Analysis in Neurological Disorders
O31 - The Landscape of Variant Reclassification: Learnings from over 2 Million Classified Variants in over 3.6 Million Individuals
O33- Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation
O32 - Ensemble Prediction of the Impact of Missense Variants Substantially Decreases VUS Rate in Genetic Testing
O30- REKLAIM, a First in Human Phase Ib Clinical Trial of FBX-101 (AAVrh10.GALC) Intravenously administered after UCBT for Infantile Krabbe Disease

Agenda

  • Yuan Ji, PhD, MBA, FACMG
  • Shoji Ichikawa, PhD
    Utility of Targeted RNA Analysis in Neurological Disorders
    11:30 AM – 11:45 AM
  • Britt A. Johnson, PhD
    The Landscape of Variant Reclassification: Learnings from over 2 Million Classified Variants in over 3.6 Million Individuals
    11:45 AM – 12:00 PM
  • Mark J. Kiel, MD PhD
    Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation
    12:00 PM – 12:15 PM
  • Robert Kueffner, PhD
    Ensemble Prediction of the Impact of Missense Variants Substantially Decreases VUS Rate in Genetic Testing
    12:15 PM – 12:30 PM
  • Maria L. Escolar, MD, MS
    REKLAIM, a First in Human Phase Ib Clinical Trial of FBX-101 (AAVrh10.GALC) Intravenously administered after UCBT for Infantile Krabbe Disease
    12:30 PM – 12:45 PM

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