Eric Marsh, MD, PhD, is an attending pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP). He specializes in diagnosing and treating children with neurodevelopmental disorders (including Rett Syndrome), developmental epilepsies, epilepsy, infantile spasms syndrome and malformations of cortical development.
Dr. Marsh’s philosophy of care centers around helping families feel heard and informed.
“It’s important that families are listened to, their concerns are taken seriously and the issues and conditions they face are explained to them to the best of our abilities,” he says.
In addition to his role at CHOP, Dr. Marsh is an Associate Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania and Clinical Director of the Penn Orphan Disease Center
Dr. Marsh has long been fascinated by the workings of the brain and how its billions of neurons can lead to neurological diseases when not functioning properly. This interest has driven his research into genetic epilepsies and genetic neurodevelopmental disorders.
“Understanding these disorders can lead to a better grasp of how the brain works and can lead to novel treatments and cures for these conditions,” he says.
Much of Dr. Marsh’s research focuses on mutations in the ARX gene, which cause epilepsy and other diseases. He is also studying the clinical presentations of Rett syndrome, Dravet syndrome and Lennox-Gastaut syndrome, CDKL5 syndrome and related disorders, and is involved in a number of clinical trials for novel therapeutics.
“There is an emergence of cell-, RNA- and DNA-based therapies as well as pathway-directed pharmaceutical approaches to treating these difficult to treat conditions,” he says. “I feel that a better clinical understanding of these conditions using new technologies to track and monitor neurological function will allow for novel therapies to improve patients’ lives.”
