Driving research to find Kabuki syndrome treatments faster.

The Kabuki Syndrome Foundation’s mission is to advocate for individuals with Kabuki syndrome by finding treatments that will improve their lives. KSF drives patient-centered research through fundraising and collaboration with partners across the globe.

What is Kabuki Syndrome?

Kabuki syndrome is a rare, genetic disorder that affects multiple systems of the body. Kabuki syndrome is found equally across genders, ethnicities, and geographies. The gene mutations that cause Kabuki syndrome have been identified and provide potential treatment pathways.

Therapies in Development

KSF is defining and driving the therapeutic roadmap for Kabuki syndrome. With the guidance of our Medical and Scientific Advisory board, we are identifying and funding priorities based on our community’s unmet needs.

​Kabuki syndrome symptoms have been successfully treated in mice, and KSF has a plan to find therapeutics for everyone with Kabuki syndrome. Now is the time to drive research for all people with Kabuki syndrome.

Kabuki Syndrome Research

Research Opportunities

Research is what makes the treatment of Kabuki syndrome symptoms possible. We partner with the world’s leading Kabuki syndrome doctors and researchers to increase your access and accelerate research.

Together – across type 1 and 2, from mild to severe – we can find treatments faster.

Learn More

Just Diagnosed? Start Here.

We understand the intense range of emotions that comes with a diagnosis and we’re here to help. KSF is led by parents and family members of children with Kabuki syndrome, and we network with adults with Kabuki syndrome.

Here you’ll find information, resources, community support, and stories of our joy and hope.

For Families

Kabuki Syndrome Foundation Impact

$125K
awarded in research grants
450
individuals connected during annual research conference
71+
new research participants enabled in 2022
Impact Reports