News The Hellenic Alliance of Rare Patients at the 2026 TIF Katerina Tzimourta, September 1, 2026September 8, 2026 The Rare Diseases Greece (RDG) is participating once again in the Thessaloniki International Fair (TIF), bringing to the center of public discussion the voice of people living with rare diseases and…
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 working on the development of new treatments gathered in Waltham, Massachusetts for the North American Kleefstra Syndrome Family Conference + Scientific…
News New two-year preclinical program for EHMT1 gene replacement Katerina Tzimourta, June 14, 2026August 21, 2026 A new research project is attempting to answer a fundamental question about Kleefstra syndrome: can a functional copy of EHMT1 be delivered in a controlled and acceptably safe manner to the appropriate cells of the central nervous...
News New research on potential drug repurposing for Kleefstra syndrome Katerina Tzimourta, April 9, 2026August 21, 2026 A new collaboration seeks to limit the very large number of potential drug substances that could be studied for Kleefstra syndrome, using RNA from individuals with the diagnosis and computational models. IDefine and…
News New RNA research approach aims to increase EHMT1 protein Katerina Tzimourta, March 30, 2026August 21, 2026 A new research project is attempting to address Kleefstra syndrome as close as possible to its molecular cause: the insufficient amount of functional EHMT1 protein. The Department of Chemistry at the University of Chicago and IDefine...
News Active family participation has begun in the longitudinal study on Kleefstra syndrome Katerina Tzimourta, October 25, 2025August 21, 2026 A family report published by IDefine on October 19, 2025, confirmed that the longitudinal study on the natural history of Kleefstra syndrome at Boston Children’s Hospital has now moved past the planning stage…