PHILADELPHIA-A $25 million gift from an anonymous donor to Penn Medicine and Children’s Hospital of Philadelphia (CHOP) will establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), accelerating collaborative research in genetic therapies for neurodevelopmental disorders. This gift will bolster the efforts of an interdisciplinary group of clinicians and scientists at Penn and CHOP, led by director Benjamin Prosser, PhD and co-directors Beverly Davidson, PhD and Ingo Helbig, MD. Dr. Prosser is an associate professor of Physiology at the University of Pennsylvania’s Perelman School of Medicine, who adjusted the focus of his research career when his own daughter, Lucy, was diagnosed shortly after birth in 2018 with a rare genetic neurodevelopmental disorder.
“ENDD offers hope to patients and families living with the many challenges of rare, genetic neurodevelopmental disorders,” said J. Larry Jameson, MD, PhD, executive vice president of the University of Pennsylvania for the Health System and dean of the Perelman School of Medicine. “This important gift will accelerate the progress of an extraordinary partnership between Penn and CHOP that demonstrates the power of collaboration and a commitment to finding cures. We are incredibly grateful to this donor, whose dedication to the advancement of research in this area is sure to create the launch pad for a new outlook for those diagnosed with these conditions.”
The gift was made in honor of the late television executive Daniel B. Burke whose son Stephen B. Burke served on the board of trustees at CHOP.
“We are extremely grateful for this visionary gift that supports our efforts to solve the unsolvable when it comes to rare diseases, improving our ability to translate new discoveries about potential therapies into clinical practice,” said Madeline Bell, President and CEO of Children’s Hospital of Philadelphia. “CHOP and Penn have systematically invested in integrated care programs for genetic epilepsies and neurodevelopmental disorders. This new center will fill the gap between the tremendous advances in early diagnosis and comprehensive clinical care and the development of new treatments for these patients.”
ENDD will initially focus on developing therapies for disorders related to mutations of the STXBP1 and SYNGAP1 genes – which are linked to abnormal brain function, intellectual disability, epilepsy, and motor and behavioral impairments – with the goal of expanding its efforts to other genetic neurodevelopmental disorders over time. ENDD strengthens an existing partnership between Dr. Prosser and Dr. Davidson, the Director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics and Chief Scientific Strategy Officer at CHOP and Professor of Pathology and Lab Medicine at Penn, and Dr. Helbig, a pediatric neurologist in the Department of Neurology at Penn and Division of Neurology at CHOP and the Director of Genomic Science at CHOP’s Epilepsy NeuroGenetics Initiative (ENGIN). Their joint work in the Center will target the development of anti-sense oligonucleotide (ASO), gene therapy, and CRISPR-based strategies for the treatment of NDD.
Dr. Prosser’s daughter Lucy was diagnosed with a rare, genetic neurodevelopmental disorder caused by a mutation of the STXBP1 gene. STXBP1-related disorders cause a range of symptoms, including seizures, developmental delays, intellectual disabilities, and movement disorders. There is no known cure or effective treatment.
Driven by a desire to help his daughter and the more than 5,000 children with STXBP1 disorders born each year worldwide, Prosser, an expert in cardiac molecular biology, launched a separate research arm in his lab focused on developing new therapies for STXBP1 and related disorders. He began collaborating with Davidson and Helbig, as well as other researchers and clinicians across Penn and CHOP, forming the ENDD Therapeutics Team.
“As a scientist and as a parent, I am incredibly grateful for this gift, which will propel our work forward with the hope of changing the course of these disorders,” Prosser said. “We have a rare opportunity with such a brilliant and dedicated team of scientists and clinicians at Penn and CHOP, who are motivated each day to make a difference for Lucy and children like her.”
Davidson, a world-renowned expert in gene therapy in neurological disorders, works to understand the molecular basis of childhood onset neurodegenerative diseases and the development of gene and small molecule therapies for treatment. Helbig, who serves as one of the directors of the Epilepsy Neurogenetics Initiative (ENGIN) at CHOP, has particular expertise in SYNGAP1 and STXBP1 and treats many children with these disorders, including Lucy Prosser. This unique combination of clinical knowledge, innovation in gene therapy, and the drive of a parent-scientist will accelerate the development of new therapies for neurodevelopmental disorders.