In 2022 our community partnered with Dr. Caitlin Hudac and Dr. Nicolò Pini to complete the first ever EEG collection for MED13L Syndrome at the Simons Searchlight meeting in Baltimore. Nineteen MED13L children participated, giving us our earliest look at how attention and brain activity develop differently in MED13L.
At the 2025 Family and Research Conference in Boston, families helped us take a major step forward. The research team successfully collected EEG data from 28 MED13L participants, making this one of the largest EEG datasets for any rare neurodevelopmental disorder.
This new grant funds a full year of analysis and scientific work on these EEG recordings. The goal is to develop biomarkers which are measurable signs inside the brain that show how MED13L affects attention, sensory processing, and development. Biomarkers are crucial for future treatments because they allow researchers to:
- Detect changes earlier than behavior alone
- Measure whether a therapy is working
- Make clinical trials faster, safer, and more precise
Thanks to the commitment of MED13L families in 2022 and 2025, we now have the foundation to build the first EEG based biomarkers for MED13L Syndrome and accelerate the path to future therapies.
