About KAT6A Foundation
The KAT6A Foundation was created in 2017 by parents of children identified with a mutation in the KAT6A gene. In 2020, we welcomed patients diagnosed with a KAT6B related genetic disorder to join our community since the genes are very closely related. Today, there are nearly 500 KAT6A/B patients diagnosed worldwide. We are a proud member of NORD and a recipient of a Rare as One grant by CZI (The Chan-Zuckerberg Initiative.)
Our mission is to support people and their families living with KAT6 disorders. It is imperative to raise funds to further research and identify possible treatments that could lead to a better quality of life. We aim to inform, raise awareness, and identify more individuals with KAT6A and KAT6B gene mutations. This enables researchers and clinicians the opportunity to discover more about these rare disorders and give our community greater consideration.
Each year our community comes together to celebrate Rare Disease Day. Our foundation spreads awareness on social media and in local press. Many parents do presentations in their child’s classrooms at school or virtually. We wear KAT6 t-shirts and zebra stripes to show solidarity with the Rare Disease community worldwide.