We are a translational research laboratory focused on inborn errors of metabolism such as pyridoxine-dependent epilepsy, glutaric aciduria type I, and vitamin B6 metabolism. We investigate the genetic, molecular, and cellular basis of these conditions using zebrafish as a principal model. This work is focused on understanding the role of accumulating metabolites in disease pathology. We aim to leverage our understanding of biochemistry in order to develop novel therapeutic approaches and improve relevant clinical outcomes.
We are also committed to scientist – advocate collaborations with the goal to ensure scientific advances are relevant and patient-centered. We partner with families, clinicians, and scientists to study the natural history of these neurologic disorders and the impact of therapies on clinical outcomes.