Skip to Main Content

About the Lab

Gleeson Lab

Our lab is interested in understanding the mechanisms involved in the development of the mammalian brain and in developing treatments for diseases previously considered untreatable. Children with neurodevelopmental disease present a challenge to medicine, because scientists understand so little about how the brain functions that most conditions are considered untreatable, and most children are left without a specific diagnosis.

One of the ways to uncover mechanisms of disease is through studying the genetic factors necessary for brain development in humans. Our laboratory seeks to identify genes involved in the development of the brain from study of these special patients. We investigate the mechanisms of disease for genes that we and others identify as disrupted in patients. Finally, using a combination of animal and stem cell models, we seek to develop new treatments for pediatric brain disease.

Our recent work has uncovered several pediatric brain diseases that were previously considered untreatable to have obvious points of treatment. We described mutations in the BCKDK gene in patients with autism and epilepsy that predict that they should respond to simple nutritional supplementation of branched chain amino acids. We described mutations in the MTOR, AKT3, PIK3CA genes in patients wth hemimegalencephaly that predict they should respond to medications inhibiting the mTOR pathway. We described mutations in the AMPD2 gene in patients with a form of neurodegeneration that predict that they should respond to simple nutritional supplementation with an over-the-counter supplement AICAR. We are excited to find these potentially treatable conditions in patients hiding in our clinics, and hope that the research field can help us move forward to developing treatments for what were previously considered untreatable conditions.

To learn more about Dr. Gleeson and his research, please click on the following links:

HHMI Investigator Website

Hear Joseph Gleeson's presentation on neurodevelopmental disorders

See a short video on what the lab is up to

Learn where Gleeson Lab alumni are now