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Related Experiment Video

Updated: Jun 10, 2025

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A roadmap to cure CHD2-related disorders.

Stephanie Prince^1,2, Emily Bonkowski³, Christopher McGraw^4,5

¹Coalition To Cure CHD2, Dallas, TX, USA.

Therapeutic Advances in Rare Disease

|October 11, 2024

Summary

Coalition to Cure CHD2 is advancing research for CHD2-related disorders, focusing on a roadmap to a targeted cure. Identifying CHASERR gene dosage sensitivity offers a promising therapeutic target for these rare neurodevelopmental conditions.

Keywords:

CHASERR CHD2 DNA Methylation Developmental and Epileptic Encephalopathy (DEE)epilepsy long noncoding RNAs rare disease

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Published on: August 8, 2022

Area of Science:

Genetics
Neurodevelopmental Disorders
Rare Diseases

Background:

CHD2-related disorders (CHD2-RD) are genetic conditions caused by pathogenic changes in the CHD2 gene, a chromatin remodeler.
These disorders manifest as treatment-resistant epilepsy, intellectual and developmental delays, autism, and neurodevelopmental regression.
Currently, no targeted therapies exist for CHD2-RD, with haploinsufficiency being a primary disease mechanism.

Purpose of the Study:

To outline a strategic roadmap for developing targeted therapies and ultimately a cure for CHD2-related disorders.
To identify and leverage potential therapeutic targets, such as the CHASERR gene, to address CHD2 gene dosage sensitivity.
To foster collaboration between patient advocacy, the scientific community, and affected individuals to accelerate research.

Main Methods:

Developing and studying CHD2 models (cellular and animal) to understand disease mechanisms.
Identifying and defining patient populations for research and clinical trials.
Testing emerging therapeutic approaches and establishing reliable biomarkers and measurable outcomes.

Main Results:

Identification of CHASERR gene deletion in individuals with CHD2-RD establishes CHD2 dosage sensitivity.
CHASERR gene is recognized as a potential therapeutic target for modulating CHD2 levels.
A comprehensive 'Roadmap to Cure CHD2' has been established, guiding research priorities.

Conclusions:

Despite research challenges, significant progress is being made toward a cure for CHD2-RD.
Targeting CHD2 gene dosage via regulators like CHASERR presents a viable therapeutic strategy.
Continued research and community engagement are crucial for improving outcomes for individuals with CHD2-RD and their families.