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
We are thrilled to invite you to the 4th Annual Kabuki Syndrome Foundation Research Conference to be held virtually on Friday, November 4, 2022. The Annual Conference is our hallmark event for the community and largest fundraising event that supports Kabuki syndrome research. Last year, we had over 345 participants from 20 different countries join our platform! While this year's format has been scaled down to one day, we anticipate just as many, if not more participants, as we bring together hundreds of Kabuki syndrome families from around the world, along with the key opinion leaders, researchers, clinicians, and biotechs working on this condition.
Significant progress has been made in Kabuki syndrome research and KSF is dedicated to delivering this information to the community during our annual conferences. With clinical trials in the pipeline, it is critical that families and individuals with Kabuki syndrome understand how important our role is in therapeutic development. Patients, caregivers, advocates, scientists, and clinicians must work together on the path to discovering effective treatments.
This is not a conference you will want to miss! There will be opportunities throughout the day for interactive Q&A, breakout sessions, flash talks, and networking. We understand that other commitments exist, but we encourage LIVE participation as there will be plenty of opportunities to engage with Kabuki syndrome experts and panelists. Plus, you won't want to miss learning more about the upcoming clinical trial! Registration is FREE and open to patient families, individuals with Kabuki Syndrome, researchers, clinicians, industry partners, and anyone interested in learning more about the current research landscape. Click here to see the program preview and register today!
Participate in research NOW! The 2022 Crowdsourcing Survey is open! In just 10 minutes, you can drive patient-centered research!
KSF uses this tool to better identify and accelerate clinical trials that are important to the Kabuki syndrome community. This survey works well on mobile but may be easiest on a laptop/desktop.
The results of our 2021 survey led KSF to award a $125K grant to create a tool to measure neurological symptoms in Kabuki syndrome in clinical trials. These new questions are also based on the community priorities identified in our 2021 survey.
Thank you to the 100+ participants who completed the survey! At this time, we will leave the survey open. We look forward to sharing the results!
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 disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, and skeletal abnormalities. A wide variety of additional symptoms affecting multiple organ systems may occur, and vary from one person to another.
To date, researchers have identified a mutation in one of two genes that leads to Kabuki syndrome. Males and females are affected equally and the syndrome is found in all ethnic groups. The incidence of Kabuki syndrome has been estimated to be at least one in 32,000 births in the general population. With increased availability of gene testing, it is expected that two or three times as many cases may be properly diagnosed. There is currently no cure for Kabuki syndrome.
Source: National Organization for Rare Disorders