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.
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.
This September, our global, virtual event was attended by 212 families from 35 countries!
Pathway to Treatments: Families Fueling Kabuki Syndrome Research
The live webinar featured:
Keynote speaker Charlene Son Rigby, CEO of Global Genes, illustrated how patient advocacy groups make treatments possible – and how you can make a difference.
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:
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.
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.