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MCRI is Seeking Participants for New KAT6A Research Study

Biomarker discovery in KAT6A for translation into clinical trials For KAT6A syndrome and other neurodevelopmental disorders, researchers are starting to understand the dysregulated cellular processes affecting neurons and their supporting cells. The Chromatin Disorders Research Team at Murdoch Children’s Research Institute is currently using a mouse model, alongside human cortical neurons to study gene expression […]

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A Story of Strength, Resilience, and Gratitude

  In August 2021, after years of specialist appointments, genetic testing, and searching for answers, our world changed when my son, Christopher, was diagnosed with KAT6B syndrome, a rare genetic neurodevelopmental disorder. From birth, we knew he was different. He was a beautiful baby, but as he grew, developmental delays, coordination struggles, and communication difficulties […]

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Rare As One Network – Cycle 1 Impact Report

We are delighted to share that the Chan Zuckerberg Initiative’s, Rare As One Network Cycle 1 Impact Report, is now live on CZI’s website. The report includes our foundation’s individual and collective accomplishments during and after the grant period (2019-2023). Additionally, we are excited that the report and its key findings were published on December […]

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Make a Difference

Help us support people and their families living with KAT6A and KAT6B syndromes. Your donations will fund vital research into KAT6A and KAT6B gene mutations and provide assistive equipment, technology, and therapies to families through our Empowered grants. All donations are tax deductible in the US and go to KAT6 Foundation, a nonprofit 501(c)(3).


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  • KAT6 Foundation
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  • support@kat6a.org

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