Epilepsy and Neuro-developmental disorders (NDD) are often caused by genetic mutations that lead to haploinsufficiency, or a loss-of-gene function. Mutations that cause haploinsufficiency of neurodevelopmental genes affect over 200,000 births each year, and commonly result in congenital malformations, intellectual disability, epilepsy and motor and behavioral impairments. While symptomatic treatments exist, for most conditions there are no treatments that directly correct the reduced levels of the haploinsufficient gene.
To tackle this issue, we’re thrilled to announce the formation of the ENDD Therapeutics Team, a multi-disciplinary group of investigators focused on developing new therapies for these intractable conditions. The core labs include the Prosser and Heller Labs at Penn and the Davidson Lab at CHOP. We also work closely with Debbie French and the Human Pluripotent Stem Cell Core at CHOP to develop iPS-models of NDD and test novel therapies, and with Dr. Ingo Helbig, a neurogeneticist at CHOP, as our clinical consultant.
The group is focused on developing anti-sense oligonucleotide (ASO), small molecule, and CRISPR-based strategies for the treatment of NDD, with our initial focus on STXBP1- and SYNGAP1-related disorders. The ENDD team is supported by collaborations with the pharmaceutical and biotechnology sector, private foundations including the Syngap Research Fund and STXBP1 Foundation, and philanthropic efforts.