You are central to finding treatments.

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: The Kabuki Syndrome Consortium

  • 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 Ways to Contribute to Research: Share a Sample

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.

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.

In the United States:
Kennedy Krieger (Baltimore, Maryland)
Roya Kabuki Initiative (Boston, Massachusetts)
Cincinnati Children’s (Cincinnati, Ohio)

In Italy:
Fondazione IRCCS Casa Sollievo della Sofferenza, Dr. Giuseppe Merla
University of Trento, Dr. Alessio Zippo via Daniela Michelatti

Samples can be safely shipped within the country where they are collected. We look forward to expanding this list.

Have a Question? Contact Us.

Stay Informed

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

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