Research is the key to understanding and treating the symptoms of Kabuki syndrome.

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: The Roadmap to Treatments for Kabuki Syndrome

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 thrilled to share that we've secured and designated over $2,000,000 to support LEAP. Every dollar counts as we aim to raise $3,500,000 over the next two years.

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L: Learn more about Kabuki syndrome.

KSF is awarding collaborative Discovery Grants aimed at identifying new therapeutic opportunities, disease-causing targets, and pathways.

Funding needed: $600,000

E: Enable collaboration between patients, researchers, and clinicians.

The Kabuki Syndrome Outcome measures and biomarkers Consortium (KSOC) is a new collaborative clinical research study created, funded, and led by the Kabuki Syndrome Foundation to develop tools that can help take potential therapeutics to human clinical trials.  This consortium includes Boston Children’s Hospital, Johns Hopkins Medicine & Kennedy Krieger Institute, SickKids Hospital, and Seattle Children’s Hospital.

KSF hosts an annual Scientific Symposium to enable knowledge sharing and acceleration of therapeutic development.

Funding needed: $1.8 million

A: Accelerate therapies from the lab to patients.

By funding and supporting promising therapeutics, meaningful translational research, and patient enrollment in clinical trials, KSF is accelerating therapies from the lab to patients.

Funding needed: $1 million

P: Prepare for clinical trials as a community.

KSF is preparing for clinical trials by identifying, engaging, and empowering patients to participate in research. We create accessible resources and events for our community and build bridges between the research and families. 

Kabuki Count is a global census project led by KSF to show our potential partners the number of families they can impact. Participants will be notified of studies and clinical trials they are potentially eligible to join. We are building a research-ready network of families and organizations interested in helping people with Kabuki syndrome live their best lives.

Funding needed: $100,000

How Our Community Drives Our Actions

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.

Why Patient & Family Participation is Critical

Patient-Centered Research

Patient-Centered Research

Dr. Brittany Simpson highlighted the importance of patient-centered research at our 2021 Research Conference.

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KSF's Crowdsourcing Surveys

KSF's Crowdsourcing Surveys

In 2022, your participation in KSF’s survey led to the planned expansion of the dietary clinical trial. Sign up so you don’t miss future opportunities! 

2022 Results
Your Role in Clinical Trial Design

Your Role in Clinical Trial Design

Dr. Adam Hartman from the NIH illustrates why patients and their families are key to clinical trial design at our 2022 Research Conference.

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Clinical Trial Development

Clinical Trial Development

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 2023 conference presentation.

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What is Kabuki Syndrome? And How Could It Be Treatable?

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.