In early 2023, a $25 million gift from an anonymous donor to Penn Medicine and Children’s Hospital of Philadelphia (CHOP) established 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 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.
Learn more about the study & how to sign up here. Read the full news release here and watch a special interview with Drs. Prosser and Helbig below.
Important Links:
- Sign up for the study – SYNGAP1 Natural History Study at ENDD/CHOP
- Other ProMMiS sites collaborating with CHOP – Children’s Hospital of Colorado and Stanford
- Initial press release, February 7, 2023 – $25 Million Gift to Penn Medicine and Children’s Hospital of Philadelphia Establishes Center for Epilepsy and Neurodevelopmental Disorders (Penn Medicine News)
- Need financial assistance? – ENDD Travel Assistance Program
- ¿Necesita ayuda financiera? – Programa de Asistencia de Viaje ENDD en Espanol
- Flying with your Syngapian is difficult – consider contacting Air Charity Network as an option to a flying commercial.
- Once you have visited a ProMMiS site, please complete a short set of caregiver surveys through RARE-X to add valuable information that researchers cannot capture during clinic visits. See cureSYNGAP1.org/RAREX for more details!
Learn More:
- January 10, 2025 – Get Motivated to participate in ProMMiS: First SYNGAP1 Family From Poland Goes To CHOP! (blog, Beata Tarasiuk)
- October 7, 2024 – CHOP ENDD SYNGAP1/STXBP1 Clinic Turns 1! (blog, Sara Driscoll, Jaclyn Sliger, and Rachel Frayne)
- January 16, 2024 – 2024 Updates to the SYNGAP1 Natural History Study at CHOP (blog, Sydney Stelmaszek)
- October 17, 2023 – 2024 Update on SYNGAP1 Research Projects at ENDD, University of Pennsylvania (webinar #93, Michael Boland, PhD)
- July 11, 2023 – STXBP1 and SYNGAP1 Natural History – Reflections after Day 1 of ENDD Clinic (blog, Sarah Ruggiero with CHOP)
- July 10, 2023 – What to Expect when You’re Preparing to Visit the SYNGAP1 Natural History Study (blog, Sydney Stelmaszek)
- June 11, 2023 – Natural History Study at Children’s Hospital of Philadelphia is a Natural Win for SRF & SYNGAP1! (blog, Sydney Stelmaszek)
- May 19, 2023 – This is the ENDD of excuses. Sign up for the CHOP ENDD Study – SYNGAP10 Episode 105 (SYNGAP10 podcast, Mike Graglia)
- April 27, 2023 – A Data-Driven Approach to Reconstructing Disease Trajectories in SYNGAP1-related disorders (webinar #72, Jillian McKee, MD, PhD)
- 2022 Hotel Info – New Rates.pdf
- The ENDD/CHOP team:
