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.
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.
LEAP is the roadmap to unlocking treatments for Kabuki syndrome on an accelerated timeline. Watch the first LEAP webinar on our YouTube.
In the second webinar, our research team shows how gene mutations cause the symptoms of Kabuki syndrome. We’ve simplified the science so you can get involved in finding treatments.
LEAP into Learn with us and you’ll see how the science relates to ongoing research and potential treatments. Our research team illustrates how gaps in research can prevent us from finding treatments. See how KSF is closing the gaps with our Discovery Grant and how your donations make a difference.
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.
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.
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.
