CCC's Science Outreach Manager
Stephanie Prince, MD, MSc, FRCR
Stephanie and her husband James have a daughter with a CHD2 pathological variant. She was diagnosed in January 2021 at the age of 4 during the Covid-19 pandemic after presenting with myoclonic seizures. Her daughter is the eldest of three children.
Stephanie is a Clinical Oncologist based in the United Kingdom. As the Science Outreach Manager, she hopes to combine her parent and medical knowledge to assist CCC in reaching out to academics and pharmaceutical companies to establish more research into CHD2. She believes that CCC's future research directions should include, among other things, gaining an understanding of how the CHD2 gene causes neurodevelopmental disorders, how other genes/proteins influence the function of CHD2, and how an understanding in this regard may ultimately lead to targeted treatments to improve seizure control and associated neurodevelopmental complications.