Skip to main content

Conference Program

Subpage Hero

Loading

Platform Presentations - Biochemical/Metabolic and Therapeutics

14 Mar 2024
Venue: MTCC
Meeting Room: 701
Biochemical/Metabolic and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Metabolic Genetics
  • Secondary Categories:
    • Metabolic 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.
P002 - Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes
O39 - The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s Guidance on Classification of IDUA Variants for Mucopolysaccharidosis Type I
O15 - Human endometrial organoid model implicates G6PD-dependant metabolism as a potential targetable pathway in ARID1A mutant gynecological cancers
O17 - Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency 
O26 - Analysis of Patient-Reported Outcomes and a Functional Assessment from 3-year Nitisinone Treatment Trial in Patients with Alkaptonuria
O37 -Elucidating The Metabolic Signature of Krabbe Disease in Plasma Using Untargeted Metabolomics 
 

Agenda

  • Sarah H. Elsea, PhD, FACMG
  • Emily Groopman, MD, PhD
    Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes
    4:15 PM – 4:30 PM
  • Jennifer Goldstein, PhD, CGC
    The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s Guidance on Classification of IDUA Variants for Mucopolysaccharidosis Type I

     
    4:30 PM – 4:45 PM
  • Forouh Kalantari, MS, PhD Candidate
    Human endometrial organoid model implicates G6PD-dependant metabolism as a potential targetable pathway in ARID1A mutant gynecological cancers
    4:45 PM – 5:00 PM
  • Meena Sethuraman, BS
    Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency 
    5:00 PM – 5:15 PM
  • Kathryn Spears, BA
    Analysis of Patient-Reported Outcomes and a Functional Assessment from 3-year Nitisinone Treatment Trial in Patients with Alkaptonuria
    5:15 PM – 5:30 PM
  • Rachel Wurth, MS, MLS ASCP(CM)
    Elucidating The Metabolic Signature of Krabbe Disease in Plasma Using Untargeted Metabolomics 
    5:30 PM – 5:45 PM

Sponsors