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
