University of Chicago and IDefine Launch Rapid Response Research Program to Engineer First-of-its-Kind Molecular Therapy for Kleefstra Syndrome

The University of Chicago is developing a molecular therapy to boost protein levels in Kleefstra syndrome patients, targeting the root genetic cause.

By: AXL Media

Published: Mar 27, 2026, 11:08 AM EDT

Source: Information for this report was sourced from the University of Chicago.

Targeting the Root of a Rare Neurodevelopmental Disorder

Kleefstra syndrome (KLEFS) is a rare condition characterized by intellectual disability, developmental delays, and features of autism spectrum disorder. At its core, the syndrome is caused by "haploinsufficiency"—a genetic state where one of the two copies of the EHMT1 gene is missing or non-functional. This results in the brain producing only half the protein it needs for normal development. To combat this, the University of Chicago is launching a targeted therapeutic strategy designed to force the remaining healthy copy of the gene to work harder, effectively restoring the body’s protein levels to a functional range.

The Dickinson Lab: Programmable Translational Activation

The program is led by Dr. Bryan Dickinson, whose laboratory specializes in creating molecular "activators" that can be programmed to find and boost specific genetic transcripts. This technology has already shown significant success in treating other conditions, such as Dravet syndrome (a severe form of epilepsy). By applying this "translational upregulation" platform to Kleefstra syndrome, the Dickinson lab hopes to create a highly specific tool that targets only the EHMT1 transcript, minimizing the risk of off-target effects that often plague broader genetic therapies.

A Six-Month Sprint Toward Clinical Milestones

The initial phase of this partnership, supported by a grant from IDefine – The Kleefstra Syndrome Foundation, is set for a rapid six-month timeline. During this period, researchers will focus on: