The DLG4 SHINE Foundation will participate in a collaborative research initiative led by COMBINEDBrain and Johns Hopkins University (JHU) to evaluate a novel RNA-based therapeutic approach for rare genetic disorders.

The research will explore whether a technology known as poly(A)-mimetic technology, or “mRNA boosters,” can increase expression of PSD95,the protein causing DLG4 SHINE Syndrome.

The initiative brings together five rare disease organizations — DLG4 SHINE Foundation, IDefine, the Koolen-de Vries Syndrome Foundation (KdVS Foundation), MED13L Foundation, and DYRK1A Syndrome International — to support research led by Jeff Coller, Ph.D., Bloomberg Distinguished Professor of RNA Biology and Therapeutics at Johns Hopkins University and professor of molecular biology and genetics at the Johns Hopkins University School of Medicine. Dr. Coller’s laboratory developed the mRNA booster platform, which is designed to enhance gene expression from the single functional copy of the DLG4  gene.

For individuals with SHINE Syndrome, the goal of this research is to explore whether increasing expression from the single functional copy of DLG4 could be a therapeutic strategy. The platform has previously demonstrated the ability to increase expression of other genes associated with neurodevelopmental disorders in both cell and animal models of those disorders. This research will now evaluate its potential application to DLG4.