New Research, Global Calendar, and Marathon Running – The Kabuki Syndrome Collective
This is the April 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.
—
It’s been an impactful month across the Kabuki syndrome community, with new research updates, global milestones, and inspiring family-led efforts. Here are the top updates:
Research Update: KSF Scientific Symposium Summary
You can now explore a summary of the research presented at our Kabuki Syndrome Scientific Symposium. More than 60 attendees engaged in 13 presentations, nearly half of which were funded, designed, or conducted in collaboration with the Kabuki Syndrome Foundation (KSF).
The meeting also highlighted significant progress that is paving the way for more accurate diagnosis, improved care, and future clinical trials.
This work doesn’t stop at the Symposium. Through funding opportunities and ongoing outreach, such as our quarterly newsletter for researchers and clinicians, KSF continues to connect the global community and accelerate progress in Kabuki syndrome research.
Kabuki Count: Global Census Reaches 1,545!
We’re celebrating a major milestone in our global community: Kabuki Count has grown to include 1,545 families across 75 countries!
Kabuki Count is our global census and contact registry, powered by KSF and supported by 10 partner groups around the world. Each person counted is one more family connected to trusted resources, community, and research opportunities. This growing dataset also demonstrates the strength of our community and supports collaboration with researchers.
If you have Kabuki syndrome or are a primary caregiver, we invite you to join so that you can be notified of events, research opportunities, and more that may be specific to your location, age, or Kabuki syndrome type. Join in 3 minutes in English, Spanish, or French.
Fuel the Future Spotlight: Father-Son Run Barcelona Marathon
Last month, Kabuki syndrome parent David and his son Matthias took on the Barcelona Marathon in support of KSF as part of our Fuel the Future campaign.
They ran in honor of Matthias’s brother, Côme, who was diagnosed with Kabuki syndrome at age 2 after a challenging early childhood that included multiple hospitalizations and surgeries. Through it all, he has remained a bright light for his family. As David shares, Côme is “a wonderful teacher of life and love, a ray of sunshine, and a constant source of strength.”
Community-driven fundraising like this powers the work of KSF: advancing research toward treatments, creating resources for families, and strengthening the global Kabuki syndrome community.
You don’t need to run or host an event to support KSF. Create your virtual fundraiser in minutes and share it via social media, text, or email. Our team is available for one-on-one support at any time.
Global Community Calendar
May 15, 2026
NORD Living Rare – Denver, Colorado, US
Join Mackay Gunn, mom to Brody and KSF’s Director of Development, at this free event designed to connect and educate rare disease patients and caregivers. See the details and register with NORD, the U.S.-based National Organization for Rare Disorders.
May 30
Stichting Kabuki Syndroom Family Day – Limburg, Netherlands
June 27
Kabuki UK’s Family Day – Warwickshire, England
July 11
Kabuki Karnival – Mukwonago, Wisconsin, US
Save these dates:
July 16
KSF Virtual Webinar for Families – details coming soon!
July 18
PNW Kabuki Syndrome Family Picnic – Seattle, Washington, US
Oct. 23
Kabuki Syndrome Awareness Day – Worldwide
Nov. 16
KSF Quest for a Cure Gala – New York, New York, US
Do you have an upcoming event for Kabuki syndrome families? Let us know!
—
Thank you for being part of our growing community.
If you have a question for our team, please contact us. We’d love to hear from you.