About Us

The KAT6 Foundation proudly funds and supports international research
by connecting families to current research studies.

The KAT6A Foundation was founded in 2017 by a handful of parents of children identified with mutations on their KAT6A gene. At the time, there were less than 50 known KAT6A cases. In the span of 5 years, our numbers have expanded to over 370 known KAT6A cases worldwide. In 2020, the KAT6A Foundation began fostering connections with the KAT6B community and in 2022, we formally became the KAT6 Foundation, an organization devoted to understanding mutations in both KAT6A and KAT6B genes. Today, there are more than 500 known cases of KAT6 syndromes worldwide, and we expect our numbers to continue to grow.

We are the only 501(c)(3) nonprofit organization founded to support the international KAT6 community.

Our Mission

The KAT6 Foundation supports individuals and their families who are living with KAT6A and KAT6B syndromes around the world. We advance scientific research aimed at developing treatments, and spread awareness of KAT6 syndromes so they can be more easily identified, treated, and studied.

Driving Research

David Geffen School of Medicine, USA - stem cell research on KAT6A and KAT6B, which continues to develop (2017 – present)
Technion Institute, Israel - multiplex analyses of the molecular pathophysiological mechanisms underlying the KAT6 syndromes (2018 – present)
Walter and Eliza Hall Institute of Medical Research, Australia - KAT6A and KAT6B mice studies are underway with the future goal of potential treatments being tested (2018 – present)
Murdoch Children’s Research Institute, Australia - international speech study on KAT6A and KAT6B individuals (2019 – present)
National Organization for Rare Disorders (NORD) and KAT6 Foundation, USA - the KAT6A/KAT6B Patient Registry is the largest study to research KAT6A and KAT6B gene mutations. The KAT6A/KAT6B Patient Registry creates a platform for patients around the world to share information about KAT6A and KAT6B syndromes. Its purpose is to build an international resource to be used by scientists in future research (2019 – present)
Chan Zuckerberg Initiative, USA - the KAT6 Foundation was chosen as part of the Chan Zuckerberg Initiative: Rare as One Network — a group of 30 patient-led organizations that are accelerating research and driving progress in the fight against rare disease (2020 – present)
Centro Andaluz de Biología del Desarrollo (CABD), Spain – a study of precision personalized medicine in KAT6 syndromes (2020 - present)
Center for Regenerative Medicine (CREM), USA - the KAT6 Foundation and collaborators have established the first patient-derived induced Pluripotent Stem Cells (iPSC) bank for KAT6A and KAT6B variants (2022 - present)
Kennedy Krieger Institute, USA – pilot study of Cognition and Neurobehavior in KAT6 Syndromes (2022 – present)
Rare Diseases: Models & Mechanisms Network (RDMM), Canada- the first study involving fly models to investigate the neurological implications of KAT6A and KAT6B gene mutations (2022 - present)

Assisting Families

The KAT6 Foundation established its Empowered Grant in 2020 to provide funding for assistive equipment, technology and therapies to individuals diagnosed with KAT6A and KAT6B syndromes.

Our advocacy team helps caregivers navigate the educational and medical systems to make informed decisions and obtain optimal services and care for their child.

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Bringing Families Together

The KAT6 Foundation is the official sponsor of the International KAT6A & KAT6B Conference. We have hosted three international conferences in conjunction with Johns Hopkins in Baltimore, Maryland. The goal of the annual conference is to solidify KAT6A and KAT6B research internationally. Each conference enables open dialogue between families, clinicians, and researchers and provides a platform for the KAT6 community to expand its network.

Raising Awareness

We strive to support individuals with KAT6A and KAT6B syndromes by raising awareness and advocating for inclusion and acceptance worldwide:

We are active on social media, in the press, and in our communities.

We proudly celebrate International Rare Disease Day on the last day of February each year.

The KATwalk is our largest awareness and fundraising event. We walk for a brighter tomorrow!

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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Our Mission

Driving Research

Assisting Families

Bringing Families Together

Raising Awareness

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Rare As One Network – Cycle 1 Impact Report

Call for Research Proposals

Attention Researchers

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