Research Approach

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.

GNB1 Syndrome research library

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

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global
developmental delay in humans 

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

The Expanding Roles of Gβγ Subunits in G Protein–Coupled Receptor Signaling and Drug Action