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We are pleased to support seven new studies advancing our understanding of KAT6A and KAT6B syndromes. These projects address disease mechanisms, model development, potential therapies, and biomarkers—laying critical groundwork for clinical trials. 1. Development of Antisense Oligonucleotide Drugs for KAT6 Syndrome Principal Investigator: Sookyung Kim, MD-PhD candidate Institution: University of Massachusetts Chan Medical School This study explores […]
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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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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 […]
Read MoreHelp 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).
