Integrative omics: A novel approach to unravelling the complexity of STXBP1 encephalopathies
Awardee: Wendy Gold
Institution: The University of Sydney
Grant Amount: $75,460.00
Funding Period: February 1, 2024 - January 31, 2025
Summary:
The paucity of any disease modifying therapeutic entering the clinic for STXBP1 is largely due to an incomplete understanding of the complex underlying disease pathophysiology and function of STXBP1 and the lack of useful clinical biomarkers. Clinical biomarkers can predict disease state, disease severity, and treatment efficacy and have the potential to enable earlier diagnosis, support novel treatments, and serve as surrogate outcome measures of improvement in key characteristics of disease and associated comorbidities in clinical trials. Through a multi-disciplinary, integrative “omics” analysis of patient blood samples, we aim to identify clinical biomarkers, disease drivers, and therapeutic targets that will contribute to improved clinical monitoring, treatment options, and outcomes for STXBP1 encephalopathies.