News New RNA research approach aims to increase EHMT1 protein Katerina Tzimourta, March 30, 2026August 21, 2026 The University of Chicago and IDefine announced a six-month collaboration to develop molecular tools that could help cells produce more EHMT1 protein from the functional copy of the gene. This is very early-stage laboratory research, with no human data or available treatment.
Research What Do We Now Know About the Early Developmental Milestones in Kleefstra Syndrome? A New Study of 100 People Katerina Tzimourta, March 13, 2026August 21, 2026 When does a child with Kleefstra syndrome usually start to sit up? When do they take their first…
Research The first international clinical guideline for Kleefstra syndrome Katerina Tzimourta, February 12, 2026August 20, 2026 An international team of 43 experts and patient representatives from 15 countries has published the first comprehensive, evidence-based clinical guideline for EHMT1-related Kleefstra syndrome. The 66 recommendations organize diagnosis, routine monitoring, multidisciplinary care, and lifelong support.
Research New study from China broadens the genetic picture of Kleefstra syndrome Katerina Tzimourta, December 12, 2025August 21, 2026 A major new study from mainland China adds important information on the genetics and…
News Active family participation has begun in the longitudinal study on Kleefstra syndrome Katerina Tzimourta, October 25, 2025August 21, 2026 Families have begun participating in Boston Children’s Hospital’s longitudinal natural history study for Kleefstra syndrome. The research will follow up to 30 individuals aged 2–21 years for three years, without testing any drug or other treatment.
Research Greek study describes two new genetic mutations of EHMT1 and highlights the broad spectrum of Kleefstra syndrome Katerina Tzimourta, August 18, 2025August 20, 2026 Two children with the same diagnosis can have a very different course. In Kleefstra syndrome...