My research group focuses on advancing translational genomic medicine to better understand and treat neurodevelopmental and neurogenetic disorders.

We have used genome sequencing to investigate the genetic contributions to conditions like autism spectrum disorder (ASD), illuminating the genetic architecture of ASD, and creating opportunities for mechanistic understanding and therapeutic advancement.

We also integrate cutting-edge genomics with clinical medicine, aiming to bridge the gap between laboratory discoveries and patient care. We have piloted innovative methods to bring genomic technologies to diverse clinical settings, such as piloting genome sequencing as a replacement for newborn screening and employing rapid exome sequencing in neonatal intensive care units.

Finally, a major focus of our work is on precision therapies for rare neurological diseases. We pioneered the use of antisense oligonucleotides (ASO) to create personalized therapeutic options for patients with unique genetic mutations. Through collaborations with academia, industry, patients, and regulators, we are dedicated to building an open, shared ecosystem for precision genetic medicine, allowing genetic conditions to be treated at their source.