This Rare Epilepsy Partnership Award is co-funded by the Kleefstra Syndrome Foundation
Kleefstra Syndrome is a rare genetic disorder caused by changes in the Euchromatic Histone Methyltransferase 1 (EHMT1) gene, which is crucial for brain development. While most research has focused on neurons (the brain’s signal-transmitting cells), new evidence suggests that microglia—the brain’s immune cells—may also play a key role in the disease.
Microglia support brain health by cleaning waste and regulating inflammation, and the EHMT1 gene is especially active in these cells. It remains however unclear whether in Kleefstra syndrome microglia contribute to symptoms like seizures.
Researchers believe microglia may protect against brain overactivity that leads to seizures but can become harmful under stress. The goal of this project is to better understand how microglia interact with neurons in Kleefstra Syndrome and how this interaction affects abnormal brain activity caused by EHMT1 mutations. The team will use advanced cellular models to understand these interactions. By developing and characterizing these models extensively, the team aims to create a reliable system to test new treatments for seizures in Kleefstra Syndrome, including repurposing existing drugs. This work could lead to breakthroughs in managing symptoms and improving the quality of life for individuals with Kleefstra Syndrome.
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