Clinical Connection
Dr. Ess is a pediatric neurologist investigating the underlying mechanisms of cortical dysplasia, abnormal brain development, which can lead to clinical manifestations such as epilepsy and cognitive and behavioral disorders. Specifically, Dr. Ess studies the genetic disorder Tuberous sclerosis complex (TSC), which is characterized by benign tumors in the body, often in the brain, which cause seizures and behavioral problems. These tumors can be caused by mutations in the TSC1 or TSC2 gene, which encode tumor suppressing proteins. Patients born with mutations in both copies of these genes do not make their corresponding proteins, allowing cells to divide and grow uncontrollably (U.S. National Library of Medicine, 2019). Dr. Ess’s research lab uses mice and in vitro induced pluripotent stem cell models to study the molecular pathways of TSC1 and TSC2 during brain development with the goal of developing more effective clinical therapies.
Dr. Ess is also the director of the Tuberous Sclerosis Complex Clinic, which offers clinical care to children and teens with TSC.