Research Opportunities
We need you! Expanding our knowledge of DLG4 Synaptopathy and finding potential treatments relies on participation from the community in research initiatives. Please take a moment to review the programs here and consider providing information and samples to researchers.
Children’s Hospital of Philadelphia wants to enroll 25 families in a genotype/phenotype study to better understand DLG4 phenotypes. It is open to all families (adults & children) diagnosed with DLG4 Synaptopathy. Participation involves a 15-minute virtual call with a researcher & access to medical records. It is available to US & International families. If you are interested in participating please email Stacy Guzman at guzmans@chop.edu.
COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers. They will also collect several online surveys to be completed by caregivers.
Sample collection happens regularly at conferences throughout the U.S. Visit the CombinedBrain website for more details, or contact Laura Palmer for information on how to participate.
Ongoing Programs
Aside from the initiatives above, participation in registries is also very important to understanding SHINE Syndrome and finding help for patients. If you have not already, please visit the Registry page and enroll in Simons Searchlight, CoRDS, and Ciitizen.