Dlg4 Research Fund

The Dlg4 Research Fund is a U.S.-based nonprofit organization dedicated to finding specific treatment options and a cure for individuals affected by DLG4-related Synaptopathy. Its mission involves building a collaborative network of patients, families, and researchers to advance medical understanding and treatment of this rare genetic disorder.

Mission and Objectives

The organization's primary objective is to develop effective treatments and potentially a cure for DLG4 patients. This goal is achieved by fostering collaboration among patients, families, and researchers worldwide. The Dlg4 Research Fund aims to create a robust support system that enhances the quality of life for those impacted by DLG4-related conditions.

History and Structure

As of early 2023, the organization was led by a board of directors that included President Payal Patel, along with Sabrina Merchant, Kruti Dajee, and Sonam Arneja. Despite its focus on DLG4, it merged with the SHINE Syndrome Foundation in early 2024 to form the DLG4 SHINE Foundation. However, the Dlg4 Research Fund was initially established separately in pursuit of its mission.

Activities and Impact

While specific details on the current activities of the Dlg4 Research Fund are limited due to its merger, the organization's mission aligns with broader efforts to advance research and support for rare genetic disorders like DLG4. These initiatives typically include funding research studies, promoting awareness about the condition, and advocating for patient needs within the medical community.

Merger with DLG4 SHINE Foundation

In February 2024, the Dlg4 Research Fund combined its assets and operations with the SHINE Syndrome Foundation to become the DLG4 SHINE Foundation. This merger aimed to streamline efforts and enhance the impact of their combined resources in supporting families and advancing research for DLG4-related Synaptopathy.

DLG4-Related Synaptopathy

DLG4-related Synaptopathy is an ultra-rare disease caused by mutations in the DLG4 gene, located on the 17th chromosome. The condition is characterized by a range of symptoms, including sleep disturbances, hypotonia, intellectual disabilities, neurological disorders, and epilepsy—often referred to using the acronym SHINE. Research into this condition focuses on gene therapy, iPSC line development, and natural history studies to identify potential treatments.

The Dlg4 Research Fund, through its contributions and subsequent merger, has played a crucial role in supporting these research efforts and enhancing community support for families affected by DLG4-related Synaptopathy.