The aim of the foundation is to act as a catalyst for research, platform for collaboration and funding center for projects related to the processes and effects of GNB1 Syndrome.
Current projects
These are some of the exciting projects currently underway related to the GNB1 gene and G Protein function.
Awareness Campaign
The Foundation is currently raising awareness of GNB1 in an effort to build a registry of affected individuals, improve diagnosis and promote GNB1 research.
Here are some links to the most important research papers describing the clinical profile of GNB1 Syndrome and the function of the affected G Protein pathway.
Germline De Novo Mutations in GNB1 Cause Severe
Neurodevelopmental Disability, Hypotonia, and Seizures