To drive research efforts that show promise to treat or cure Kabuki syndrome through fundraising, knowledge-sharing, and collaborating with researchers around the world.
The Kabuki Syndrome Foundation
Annual Research Conference
Friday, November 4, 2022
Conference recordings are now available on the event platform! Re-watch your favorite segment or catch up on anything you missed in the same platform we used for the livestream. Full presentations and Research Recruitment opportunities can also be found in the platform. Already registered? Log in here:
Please click here if you have not yet registered:
Finding treatments is going to take all of us, and we hope you feel more empowered to
participate in research - in whatever form fits your family.
450 participants from over 35 countries have joined, and all are welcome! Access the platform to see these presentations and more: HOPE clinical trial update, flash talk and deep dives from key researchers focused on Kabuki syndrome, educational tips and parent panel, and an inspiring panel of six adults with Kabuki syndrome. KSF is providing the latest updates on research - driving and sharing the path to clinical trials and treatments that matter. Finding treatments is going to take all of us. Join us - your participation is critical!
THANK YOU TO OUR 2022
RESEARCH CONFERENCE SPONSORS
Telehealth appointments with neurological expert Dr. Jacqueline Harris, Kennedy Krieger Institute available at this time:
Due to a state of emergency order, KKI is supporting telehealth appointments for individuals who are not able to come to Maryland - regardless of insurance coverage. If interested, please schedule with Dr. Harris as soon as possible. Dr. Harris is advocating to continue telehealth appointments, but this is yet to be determined.
Call 888-554-2080 or click below to schedule.
Kabuki Syndrome Foundation Awards $125,000 for Development of Neurological Assessment Tool for Clinical Trials
ORYZON Starts Preclinical Collaboration on Kabuki Syndrome with Kennedy Krieger Institute and Johns Hopkins University
KSF is working closely with Dr. Jacqueline Harris to prepare the Kabuki syndrome community for this
clinical trial. We will share more details as they become available.
KSF WALL OF ACCOMPLISHMENTS
It’s time to brag! Share your achievements with the community!
We all know that people with Kabuki syndrome are warriors. Despite the many challenges they face, they continue to amaze with their milestones and achievements. We want to celebrate those moments with the community. Maybe it was eating solids for the first time, taking those first steps, riding a bike, reading a book, or singing a song. Share milestone moments on the KSF Wall of Accomplishments! We guarantee that joy will be felt by others, especially newly diagnosed families.
Q&A PANEL OF ADULTS WITH KABUKI SYNDROME
Many caregivers of young children with Kabuki Syndrome are overwhelmed by the early medical and/or developmental challenges their child experiences, making it difficult to envision their child's trajectory into adulthood. The video below showcases a collection of incredible adults with Kabuki Syndrome who share their personal journey. We are so inspired by this group's self advocacy and accomplishments and know it will spread inspiration to all families in our community!
WHAT IS KABUKI SYNDROME?
Kabuki syndrome is a rare, multi-system genetic disorder characterized by multiple life-altering symptoms including varying degrees of intellectual disability, distinctive facial features, and other cardiac, immune, neurological, growth and skeletal symptoms. Severity and occurance of symptoms may vary from one person to another. There is much more to learn about Kabuki syndrome. And there is hope!
As we accelerate research towards treatments and a cure,
we look forward to sharing all we learn with you. Join us!