Weekly Research Updates! - December 8, 2023

  • American Epilepsy Society Conference
    • Kit attended
    • I learned more about epilepsy and seizure research currently going on
    • I also met with researchers and rare disease advocates interested in our disorder
  • Research Roundtable 3
    • This event happened earlier today (December 8)
    • We had about 16 attendees
    • Here, we announced grant for translational science based on Patient Priority Survey
    • We also developed the beginnings of working groups
      • 1 group for patient-facing (like diagnostic and surveillance guidelines), 1 group for harder science
  • Overgrowth Syndrome Alliance (OSA) paper collaboration on seizures
    • We are working on submitting a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in Overgrowth intellectual disability disorders
    • We are using anecdotal data and registry data
  • We’re creating more iPSCs (research tools)
    • IPSCs are a tool for research, like mice but they are human cells
    • We sent out a survey to the Research community on which lines would be most helpful
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