Parent-Led Community Initiative

Understanding the ARID5B Gene

A newly identified genetic condition linked to the ARID5B gene is behind unexplained developmental delays, intellectual disability, and speech difficulties in children worldwide. Research is just beginning — and parent awareness is critical to accelerating it. Join the community to drive change.

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Our Story
Parents turning urgency into action

This initiative was founded by parents of children diagnosed with ARID5B-related neurodevelopmental disorder. Faced with a rare condition and a limited research landscape, we came together with one goal: accelerate the path from discovery to treatment. We are not waiting. We are building the community, raising awareness, and connecting families, clinicians, and researchers who can make a difference.

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Parent-Led

Founded and driven by families living with ARID5B disorder every day

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Community First

Connecting parents, clinicians, and researchers across the world

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Research Focused

Committed to accelerating scientific understanding and treatment

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Awareness Driven

Helping families find answers sooner through shared knowledge

Overview
What is ARID5B?
ARID5B (AT-Rich Interaction Domain 5B) is a transcription factor gene that plays a critical role in cell growth, differentiation, and metabolism. Variants in this gene have been linked to several significant conditions, drawing growing interest from the research community.

Recent studies have identified neurodevelopmental disorders and other conditions associated with ARID5B mutations, characterized by developmental delays, intellectual disability, and speech difficulties. This discovery highlights the urgent need for further research to understand the underlying mechanisms and develop effective treatments.
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Gene function

ARID5B encodes a DNA-binding protein involved in transcriptional regulation, development, and cell proliferation.

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Disease associations

[Placeholder: describe conditions linked to ARID5B, e.g. ALL, metabolic disease, or other areas of study.]

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Chromosomal location

Located on chromosome 10q21.2. Part of the ARID family of proteins, defined by the AT-rich interaction domain.

Publications
Research papers & articles
A curated collection of key publications on ARID5B. Add or remove entries to reflect the papers most relevant to your work.
Neurodevelopmental 2026
ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes
van Heesbeen HJ, Rabouhi N, Gouronc A, Preto A, Rousseau J, Charbonneau J, et al. — eLife (Reviewed Preprint)
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Genetics 2025
ARID5B-related neurodevelopmental disorder (PubMed)
View full citation and abstract on PubMed — PMID 41510154
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