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.

There are no Kabuki syndrome specific treatments that address the root causes of the syndrome. Current therapies for Kabuki syndrome focus on addressing symptoms as they present in an individual. We are here to unlock life-changing treatments faster.

Looking for treatments? You're in the right place.

LEAP is how we unlock treatments for people around the world affected by Kabuki syndrome. With input from our community and advisory boards, we’ve identified our greatest needs, analyzed gaps in the research, and are now executing this roadmap to life-changing treatments. We’ve secured and designated over $2,000,000 to support LEAP so far. 

​Kabuki syndrome symptoms have been successfully treated in mice, and now is the time to drive research to treatments for all people with Kabuki syndrome.

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. We recommend starting here:

Download: Quick Start for Kabuki SyndromeDescargar en Español: Guía del Síndrome de Kabuki

Participate in Research

Patient-centered research is how we unlock brighter futures for people affected by Kabuki syndrome. To increase your access and ensure research priorities reflect your priorities, we partner with the world’s leading Kabuki syndrome doctors and investigators.

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

Current Opportunities

Resources for Researchers

We are the global hub of Kabuki syndrome research and collaboration. By providing grants, forming new partnerships, and hosting scientific symposiums, we are identifying and accelerating innovative therapeutic strategies for Kabuki syndrome.

Funding Opportunities and More

Kabuki Syndrome Foundation Impact

$2 Million
committed to research thanks to our donors
450
individuals connected during annual research conference
123
Kabuki syndrome researchers & clinicians in our network
Impact Reports