Skip to main content

Conference Program

Subpage Hero

Loading

Platform Presentations - Clinical Genetics and Therapeutics Session A

14 Mar 2024
Venue: MTCC
Meeting Room: 718
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical Genetics
  • Secondary Categories:
    • Clinical Genetics
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.

O14 - A polygenic score for height to distinguish between children with idiopathic and pathologic short stature
O03 - Vosoritide Increases Growth Velocity in Hypochondroplasia: Phase 2 Trial Results
O27 - Utility of cfDNA in comprehensive genomic profiling of complex vascular anomalies: informing decision making in medical therapy
O28 - The Utility of Genetic Testing in Adults with Chronic Kidney Disease: A Systematic Review and Meta-analysis
O42 - Development of an anti-sense oligonucleotide therapeutic targeting RhoBTB2-related Epileptic Encephalopathy
O09 - Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program
 

Agenda

  • Anna CE. Hurst, MD, MS, FACMG
  • John Shelley, MS
    A polygenic score for height to distinguish between children with idiopathic and pathologic short stature
    4:15 PM – 4:30 PM
  • Andrew Dauber, MD, MMSc
    Vosoritide Increases Growth Velocity in Hypochondroplasia: Phase 2 Trial Results

     
    4:30 PM – 4:45 PM
  • Dong Li, PhD
    Utility of cfDNA in comprehensive genomic profiling of complex vascular anomalies: informing decision making in medical therapy
    4:45 PM – 5:00 PM
  • Clara Schott, PhD candidate
    The Utility of Genetic Testing in Adults with Chronic Kidney Disease: A Systematic Review and Meta-analysis

     
    5:00 PM – 5:15 PM
  • Thomas J. LaRocca, MD PhD
    Development of an anti-sense oligonucleotide therapeutic targeting RhoBTB2-related Epileptic Encephalopathy
    5:15 PM – 5:30 PM
  • Cassia Williams-Rogers, BS
    Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program
    5:30 PM – 5:45 PM

Sponsors