2024 SUDEP GRANT AWARD WINNER

Dr. Danielle Molinari Andrade, MD, MSc, FRCPC

Professor of Medicine, University of Toronto

Krembil Clinician Investigator, Krembil Research Institute

Grant Project: Predicting which Dravet syndrome patients are at higher risk for complications like SUDEP, psychosis, or heart problems, enabling personalized treatment.

Project Summary: Patients with Dravet syndrome (DS) not only experience seizures but also face intellectual disabilities, autism, movement problems, daily activity challenges, and a high risk of sudden death in epilepsy (SUDEP). While mutations in the SCN1A gene are the primary cause, variations in other parts of the genome likely contribute to these diverse symptoms. This project aims to explore the genome-wide factors influencing seizures and non-seizure comorbidities in DS patients.

Key Goals:

• Conduct a deep clinical evaluation of adults with DS, focusing on seizures, motor issues, psychological symptoms, and heart problems.

• Assess genetic variations across the genome and their link to specific symptoms in DS patients.

Deliverables:

• Identification of genetic markers linked to specific non-seizure symptoms.

• Publication of findings in scientific journals and presentations.

Impact: This study will help predict which DS patients are at higher risk for complications like SUDEP, psychosis, or heart problems, enabling personalized treatment. Findings will also support precision treatment trials and inform further research by sharing genome-wide data with other researchers.