Linking SETBP1-HD EEG Biomarkers to Clinical Profiles

MDBRSETBP1
Written By Million Dollar Bike Ride

Awardee: Caitlin Hudac

Institution: University of South Carolina

Grant Amount: $88,740.00

Funding Period: February 1, 2024 - January 31, 2025

Summary:

A better understanding of how the brain works in SETBP1 haploinsufficiency disorder (SETBP1-HD) will be helpful to predict what treatments will be most successful. We will collect data and build biological markers (or “biomarkers”) that will capture how individuals with SETBP1-HD focus and learn about the world. Our biomarkers use electroencephalography (EEG) to record brain electricity across the head from over 100 recordings sites on a wet cap. We will collect data from an additional 25 participants with SETBP1-HD using mobile EEG data collection. Critically, this study will be the first to link these brain biomarkers to language, cognitive, and attention clinical profiles. This project will produce valid and reliable biomarkers that can be used as outcome measures to improve treatment and interventions and progress clinical trials.

Million Dollar Bike Ride
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pH-dependent mechanisms of disease caused by TBC1D24 mutations
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Clinical trial readiness through longitudinal disease reconstruction in TBC1D24-related disorders