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

KSF can help you find ways to contribute to research. Everyone can do something, and together we can drive life-changing treatments. You can reach out directly to the researchers using the contact info listed in their flyers:

NEW: See an Expert

  • KSOC, the Kabuki Syndrome Outcome measures and biomarkers Consortium, aims to develop Kabuki syndrome-specific tools that can measure the effects of potential treatments in future clinical trials.
    • Travel reimbursement is available.
    • Participants will travel to see an expert at one of four locations in North America.
    • Open internationally. Participants must speak/be spoken to primarily in English.

Virtual Opportunities from Home

In-Person Opportunities

Clinical Trials

More Rare Disease Research

Join Kabuki Count

How many people have Kabuki syndrome? If you have Kabuki syndrome or are a caregiver for someone with Kabuki syndrome, you can help answer this question. Join Kabuki Count by filling out the three-minute form.

So far, over 800 participants from 44 countries have joined Kabuki Count, the global Kabuki syndrome census! 11 Kabuki syndrome organizations from around the world have partnered to show our strength in numbers.

Kabuki Count is the fastest way to show our potential partners the number of families they can impact. 

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!

More Ways to Contribute to Research

In order to better understand the underlying causes of Kabuki syndrome and find new pathways and treatments, researchers are also conducting studies in their labs. Sample contribution is one of the best ways to support the research pipeline. Samples can be safely shipped across the US.

If you have a planned blood draw or procedure, please connect with a researcher who would greatly appreciate coordinating the collection of an “extra tube” or any tissue that would be “discarded.” During procedures, that precious sample is often thrown away. Email an institution today to make a difference. 

Email Kennedy KriegerEmail Roya Kabuki Initiative

Stay Informed

The Kabuki Syndrome Foundation connects patients and their families directly to research through our Annual Research Conference and by attending community events.

Sign up now so you don't miss our next live event!