News Kleefstra Syndrome 2026 Family and Scientists Conference in Massachusetts Katerina Tzimourta, August 19, 2026August 21, 2026 From August 6 to 9, 2026, families, clinicians, researchers, and people who...
Research New study links the EHMT2 gene to Kleefstra syndrome Katerina Tzimourta, July 9, 2026August 21, 2026 Researchers have identified seven new variants of EHMT2 in individuals with clinical and molecular features resembling Kleefstra syndrome type 1. The discovery may help investigate some unexplained cases, but it does not change the diagnosis or care of individuals with a confirmed EHMT1 disorder.
Research Study Links Skill Loss in Kleefstra Syndrome to Astrocytes and Investigates Response to Olanzapine Katerina Tzimourta, June 30, 2026August 21, 2026 An international study combined observations from 54 individuals with Kleefstra syndrome type 1 with experiments on human cells and mouse model brain tissue. In 16 individuals who had received olanzapine, indications of functional improvement were recorded in some cases, but no randomized clinical trial was conducted and the findings do not establish a treatment.
News New two-year preclinical program for EHMT1 gene replacement Katerina Tzimourta, June 14, 2026August 21, 2026 IDefine and UT Southwestern announced a collaboration of approximately $310,000 to study the feasibility and safety of EHMT1 gene replacement targeting the central nervous system. The program is preclinical: there is no human trial or efficacy result.
Research The first molecularly confirmed diagnosis of Kleefstra syndrome in Rwanda Katerina Tzimourta, April 22, 2026August 21, 2026 A 15-month-old child with developmental delay and hypotonia becomes the first person in Rwanda…
News New research on potential drug repurposing for Kleefstra syndrome Katerina Tzimourta, April 9, 2026August 21, 2026 IDefine and Unravel Biosciences plan to collect nasal RNA samples from 20 individuals and use computational models to prioritize potential drug candidates. This is an observational collection of molecular data and preclinical discovery, not a drug trial.