Shine Syndrome Foundation

SHINE is an acronym that describes the common characteristics exhibited by children that suffer from a mutation in the DLG4 gene. DLG4 mutations inhibit the production of the protein PSD-95, which is crucial for brain development. Our kids are diagnosed with [s]leep disorders, [h]ypotonia and severe muscular developmental disorders, [i]ntellectual disability, [n]eurological disorders, and [e]pileptic brain seizures which often cannot be controlled with medication. Some of our kids cannot walk without assistance. Some are nonverbal and cannot communicate their wants and needs to their loved ones. Some cannot sleep for more than 2- or 3-hour increments at night. All our kids suffer from intellectual developmental delays, and many have severe cognitive disabilities. Some of our kids have daily epileptic seizures, and some experience cognitive regression resulting from brain damage from long-term seizure activity that cannot be controlled. SHINE Syndrome is a truly insidious genetic condition that destroys the quality of life of our children and their families. Research CAN enhance the human potential of our SHINE Syndrome children. HELP US by supporting research to develop therapies that CAN improve the lives of our kids and their families. DONATE TODAY to propel SHINE Syndrome research efforts forward!

We are a small community, and our families are doing all they can to raise funds through walk-a-thons, marathons, and other activities. Research is expensive. We are initiating this GoFundMe effort to raise $250,000 to support SHINE Syndrome research.

We’ve developed collaborative partnerships with research institutions around the world and begun funding efforts to study and develop therapeutic research pathways to increase PSD-95 protein production in our children. We’re co-funding an AAV9 gene therapy project at Hebrew University in Israel with HOPE for Harvey. We’re supporting an Antisense Oligonucleotide (ASO) project to modify gene expression with mRNA splicing at the cellular level. We’ve started a project to conduct a broader repurposed drug screen to identify existing drugs and molecules that can enhance the body’s use of the limited PSD-95 that is being produced and possibly enhance the body’s ability to produce more PSD-95 protein. We’re pursuing additional research initiatives. Additionally, we are planning a family conference in 2024 to gather all our families, researchers, and stakeholders together at a single research hospital location to further collaboration between researchers and to provide support for our families.

The SHINE Syndrome Foundation is a nonprofit organization founded in 2021. Our mission is to improve the quality of life for children and families impacted by SHINE Syndrome through supporting collaborative research among international medical professionals, nurturing a family community, and raising worldwide awareness.