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.
KSF is here to partner with you and help people with Kabuki syndrome reach their greatest potential. We are guided by our roadmap to treatments: LEAP for Kabuki Syndrome, that keeps your needs at the center. Together we CAN find treatments faster.
LEAP is how we unlock the brightest future possible for people with Kabuki syndrome. We identified our community's greatest needs, analyzed gaps in current research, then created a plan that addresses those gaps and enables treatment development for people with Kabuki syndrome around the world.
We are raising $3.5 million over the next two years to address our community's unmet needs. Every dollar counts.
Donate TodayKSF is awarding collaborative Discovery Grants aimed at identifying new therapeutic opportunities, disease-causing targets, and pathways.
KSF is establishing a consortium among Boston Children’s Hospital, Johns Hopkins Medicine & Kennedy Krieger Institute, SickKids Hospital, and Seattle Children’s Hospital to create and validate tools that can assess the efficacy of treatments and improve our chances of success. Stay tuned for participation details.
KSF is hosting an annual Scientific Symposium to enable knowledge sharing and acceleration of therapeutic development.
By funding and supporting promising therapeutics, meaningful translational research, and patient enrollment in clinical trials, KSF is accelerating therapies from the lab to patients.
KSF is driving the validation of several outcome measures, supporting and exploring optimization of patient registry efforts, improving diagnostic methods, and creating accessible resources for our community.
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.
