We’re inviting families with a loved one diagnosed with Ring 20 to join a research study at the Children’s Hospital of Philadelphia (CHOP) aimed at uncovering the genetic and epigenetic mechanisms behind this condition. What sets this study apart is our use of long-read sequencing technologies, which allow us to see parts of the genome that are missed by standard commercial tests. This approach gives us a much clearer and more complete picture of the genome, especially when it comes to detecting complex structural changes like ring chromosomes.
We are currently enrolling families. Participation includes providing fresh blood samples (and optionally, a skin biopsy) from your child and biological parents. Visits can be in person at CHOP, or we can coordinate with your child’s neurologist for remote participation. Your involvement could help drive new discoveries that bring us closer to improved diagnostics and treatments for Ring 20.
If you’re interested in participating, please email rimgcresearch@chop.edu.
For patients with known ring 20 syndrome who want to see Dr Mark Fitzgerald, please fill out the below form:
https://www.chop.edu/centers-programs/epilepsy-neurogenetics-initiative/contact
Mark P. Fitzgerald, MD, PhD, FAES
Assistant Professor of Neurology
Perelman School of Medicine | University of Pennsylvania
Division of Neurology | Children’s Hospital of Philadelphia
Medical Director, Epilepsy Neurogenetics Initiative
3401 Civic Center Blvd.
Philadelphia, PA 19104