Weekly Research Updates! - December 8, 2023

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