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

To improve the quality of life for people with a rare disease – from diagnosis, to clinical management, to treatments, and even a cure – patient and family participation in research is critical. You can do more than wait for change, you can drive Kabuki syndrome research forward with us.

Current Opportunities

We connect families to impactful research studies and future clinical trials around the world. Everyone can contribute in some way, and together we can drive life-changing treatments. You can reach out directly to the researchers using the contact info listed in their flyers:

Participate from Home

  • Kabuki Count is the global patient census designed to drive research and notify patients of new studies and clinical trials.
    • OPEN INTERNATIONALLY.
    • Available in English, Spanish, and French.
    • Be counted in less than 3 minutes at Kabukicount.com
  • Katz Saliva Study aims to better understand how variants in the KMT2D or KDM6A gene impact the brain. Participants are asked to provide saliva samples.
    • Available in English only at this time.
    • Complete the interest form to get started.
  • GestaltMatcher aims to shorten the diagnostic process for Kabuki syndrome and other rare diseases using an AI program that can recognize condition-specific facial features. Participants are asked to upload photos via phone or computer.
    • OPEN INTERNATIONALLY.
    • Available in English and German. 
    • Complete the interest form to get started.

More Research

Join Kabuki Count

The more individuals with Kabuki syndrome we can document, the more attractive our rare disease becomes to pharmaceutical companies, biotech firms, research institutions, clinicians, government funding, and donors — all of whom we need to move treatments forward! 

If you have Kabuki syndrome or are a caregiver for someone with Kabuki syndrome, join Kabuki Count by filling out the three-minute form. So far, over 1,300 participants from 69 countries have joined Kabuki Count.  Explore our data insights here.

Be Counted¡En Español!En français!

Connect with Experts

Healthcare providers familiar with Kabuki syndrome may be closer than you think. Explore the list of experts or watch past live events.

Clinics & PartnersKSF Video Library

Latest Updates

View All

Kabuki Syndrome Foundation Launches Kabuki INSIGHTS to Support Future Treatment Development

Research platform designed to help researchers better understand Kabuki syndrome, strengthen clinical trial readiness, and inform future treatment development. NORTHBROOK, IL, UNITED STATES, October 1, 2026 — Today, the Kabuki Syndrome Foundation (KSF) announced the launch of Kabuki INSIGHTS (INtegrated registry Study for Insights into Genetics, Health & Therapeutic Strategies in Kabuki syndrome). Kabuki INSIGHTS … Continued

See More

KSF Launches Kabuki INSIGHTS: The Kabuki Syndrome Registry and Data Hub

The Kabuki Syndrome Foundation is proud to announce the launch of  Kabuki INSIGHTS, a global research registry and data hub for people with Kabuki syndrome and their families. Kabuki INSIGHTS brings together patient- and caregiver-reported information to support research, improve understanding of Kabuki syndrome over time, and inform future clinical and therapeutic efforts. Each person … Continued

See More

Global Community in Action! The Kabuki Syndrome Collective

This is the September edition of The Kabuki Syndrome Collective, the Kabuki Syndrome Foundation’s newsletter for our global community. Sign up below to receive future editions in your inbox. Kabuki syndrome families, researchers, clinicians, and the KSF team have been taking action in communities and professional networks around the world lately. Now, we’re getting ready … Continued

See More