Pyridoxine-Dependent Epilepsy
Ensuring every patient is diagnosed and treated at birth. Focused on improving clinical outcomes today and treatment advances for tomorrow.
Research Projects
Our lab conducts cutting-edge research projects that push the boundaries of knowledge and create real-world impact. Each project combines rigorous scientific methods with innovative computational approaches.
Glutaric Aciduria Type 1
We focus on understanding the natural history and the impact of metabolism on clinical outcomes. We aim to ensure advances in treatment are patient-centered.
Metabolic Epilepsies
We aim to understand the mechanism of metabolic epilepsies and to identify shared clinical outcome measures that can faciliate clinical trial designs.
Ethics and Genetics (ELSI)
Our research focuses on the intersection of genetics & ethics and equitable access to treatment for rare diseases