IDefine Joins Multi-Foundation Research Collaboration with Johns Hopkins to Advance Novel RNA Therapeutic Platform

FOR IMMEDIATE RELEASE

IDefine Joins Multi-Foundation Research Collaboration with Johns Hopkins to Advance Novel RNA Therapeutic Platform

Collaborative effort will evaluate a shared approach for restoring gene expression across multiple rare neurodevelopmental disorders

ATLANTA, GA – July 23, 2026 – IDefine – The Kleefstra Syndrome Foundation today announced its participation in a collaborative research initiative led by COMBINEDBrain and Johns Hopkins University (JHU) to evaluate a novel RNA-based therapeutic platform designed to increase gene expression in rare neurodevelopmental disorders.

The initiative brings together five rare disease organizations — IDefine, the Koolen-de Vries Syndrome Foundation (KdVS Foundation), MED13L Foundation, DLG4 SHINE Foundation, and DYRK1A Syndrome International — to support research led by Jeff Coller, Ph.D., Bloomberg Distinguished Professor of RNA Biology and Therapeutics at Johns Hopkins University and professor of molecular biology and genetics at the Johns Hopkins University School of Medicine. By pooling resources and expertise, participating organizations aim to evaluate a shared therapeutic approach that may have relevance across multiple patient communities.

“This collaboration reflects our commitment to pursuing innovative research opportunities for individuals and families affected by Kleefstra syndrome,” said Geoff Rhyne, co-founder and CEO of IDefine. “By working alongside other rare disease organizations that share a common biological mechanism, we can support research that would be difficult to pursue independently while helping advance knowledge that may benefit multiple patient communities.”

The project focuses on disorders associated with haploinsufficiency, a condition in which a single functional copy of a gene does not produce enough protein to support normal function. Because many rare neurodevelopmental disorders share this underlying biology, researchers have an opportunity to evaluate therapeutic approaches that may have applications across multiple conditions.

The research will evaluate poly(A)-mimetic technology, known as “mRNA boosters,” developed in the Coller laboratory. Designed to enhance expression from a patient’s existing functional gene copy, the platform has demonstrated the ability to increase expression of multiple genes associated with neurodevelopmental disorders in both cellular and animal models. Researchers will now assess its potential to restore gene expression in patient-derived cellular models representing participating disorders.

The initiative is being coordinated through COMBINEDBrain, a consortium of rare disease organizations working together to accelerate therapeutic development through shared research, data and resources.

About IDefine

IDefine is the leading nonprofit patient advocacy organization dedicated to supporting individuals and families impacted by Kleefstra syndrome and accelerating the development of treatments and a cure. Founded in 2020 by parents of children diagnosed with the condition, IDefine brings urgency, determination, and a deeply personal commitment to advancing research and improving outcomes. The organization funds and drives critical research, builds collaborative partnerships with clinicians, researchers, and industry, and fosters a strong, connected community so no family faces Kleefstra syndrome alone. Through its efforts, IDefine is helping to advance scientific understanding and move the field closer to meaningful therapies and, ultimately, a cure. For more information, visit https://www.idefine.org/.