The University of Chicago Department of Chemistry, in partnership with the advocacy organization IDefine – The Kleefstra Syndrome Foundation, announced on Mar. 26 the launch of a targeted research program to develop a potential therapeutic strategy for Kleefstra syndrome.
Kleefstra syndrome is a rare neurodevelopmental disorder caused by haploinsufficiency of the EHMT1 gene. This genetic condition leads to intellectual disability, autism spectrum features, and developmental delays. The new six-month project aims to address this root cause by using molecular tools designed to restore essential protein levels in the brain.
Principal Investigator Bryan Dickinson will lead the effort. The Dickinson lab plans to use their existing technologies for programmable translational activation of endogenous transcripts, which have previously shown success targeting other genes such as SCN1A in Dravet syndrome. Their goal is to develop EHMT1-targeted activators as a possible therapeutic approach for individuals affected by Kleefstra syndrome.
The initiative is supported by a grant from IDefine and represents an early but important step toward future treatments for the Kleefstra community. The project will focus on building a programmable platform that could be adapted for other rare diseases characterized by similar genetic imbalances.
If successful, this phase will provide critical data needed for next steps such as testing neurons derived directly from patients and developing clinical delivery methods.
