STXBP1 Gene Research

With Dr. Ben Prosser

A pivot from the heart.

From the lab of Dr. Ben Prosser

Although Dr. Benjamin Prosser’s lab focuses primarily on cardiac research, that changed when his infant daughter was diagnosed with STXBP1 encephalopathy, a rare gene-based neuro-developmental condition that causes epileptic seizures.

He realized his research experience could help others with genetic epilepsy syndromes. He dedicated part of his lab to neuroscience research and partnered with the Epilepsy Neurogenetics Initiative Clinic at Children’s Hospital of Pennsylvania.

Dr. Prosser and his team are working to develop genetic or pharmacological interventions that correct for deficiencies in the STXBP1 gene to facilitate more normal function.

A window on brain cells

Neuronal activity in brain cells generated from a patient with a genetic neurodevelopmental disorder.

“Peering deep into the heart and brain unveils elegant complexity and new therapeutic possibilities.”

At Penn Medicine’s Prosser Lab, Dr. Benjamin Prosser leads research teams that focus on cardiac mechanobiology to develop new therapies for heart disease. And recently an arm of his lab has been dedicated to genetic therapies for neurodevelopmental disorders of the brain.