The Kabuki Syndrome Foundation drives research and treatment development, while fostering a global community of families, clinicians, and researchers to improve the lives of people with 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.
Kabuki INSIGHTS is the research registry and data hub for the global Kabuki syndrome community. Sponsored by the Kabuki Syndrome Foundation, Kabuki INSIGHTS was designed to ensure the lived experiences of individuals with Kabuki syndrome and their families can help inform treatment development and clinical care.
Adults with Kabuki syndrome and caregivers can participate completely from home by completing surveys, and in some countries, by connecting their medical records.
Each participant sheds light on the daily challenges, health changes, and needs of people with Kabuki syndrome of all ages. These key details can help researchers develop treatments and plan impactful clinical trials.
There are now nine potential treatments in development for Kabuki syndrome, and it is our mission to advance them from the lab to clinical trials. We are dedicated to funding the most impactful research and empowering families with knowledge, resources, and hope for a healthier future.
Learn more about therapeutic development and how we’re accelerating it together.
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.
With KSF, you will find information, resources, community support, and stories of our joy and hope. We recommend starting here:
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.
