Each unique person is part of our community’s power to drive research – no matter if your medical chart says “mild” or “severe” or type 1 or 2 or both. Your story and your samples matter.
The Kabuki Syndrome Foundation will provide the tools and access you need to partner with researchers. We are guided by our bold roadmap, active Medical and Scientific Advisory Board, and your most pressing needs. We have charted a path to find treatments, and we need you to join us. Together we CAN.
KSF is defining and driving the roadmap to treatments for Kabuki syndrome. With the first commercial clinical trial expected to start this year, now is the time for the most important push forward in Kabuki syndrome research.
We have a goal of raising $5 million over the next three years to address our community's unmet needs.
Donate TodayWe must identify and explore new therapeutic pathways that could improve quality of life for everyone with Kabuki syndrome. By awarding grants that fund promising translational research, we can find more options.
KSF is establishing and maintaining infrastructure that enforces collaborative research to end siloed work that causes delays. By establishing a consortium and organizing a scientific symposium, we are enabling data and knowledge-sharing that will accelerate therapeutic development and optimize clinical trial design.
Impactful clinical trials require the Kabuki syndrome community, scientists, and clinicians to work together. KSF is working with all to understand, organize, and optimize the role each of us has in successful trials.
KSF is committed to driving patient-centered research – scientific progress that meets the community’s priorities as defined by the community.
KSF’s crowdsourcing surveys are designed to be very short, easy to complete, and incorporate input from our community, advisory board, and industry experts. By asking the right questions, we can readily understand and share community opinions to keep patients at the center of research efforts.
Dr. Brittany Simpson highlighted the importance of patient-centered research at our 2021 Research Conference.
In 2022, your participation in KSF’s survey led to the planned expansion of the dietary clinical trial. Sign up so you can participate in the new 2023 survey later this year!
Dr. Adam Hartman from the NIH illustrates why patients and their families are key to clinical trial design at our 2022 Research Conference.
Dr. Jacqueline Harris is preparing for the HOPE clinical trial with ORYZON. Learn how we can all support and will all benefit from this phase of research in her conference presentation.
Thankfully, two genes that cause Kabuki syndrome have been identified. Symptoms have been successfully treated in mice, and KSF has a plan to find therapeutics for everyone with Kabuki syndrome.
