150 individuals with Kabuki syndrome, either type 1 (KMT2D) or type 2 (KDM6A), of all ages, from diverse backgrounds around the world, and with a molecularly confirmed genetic diagnosis were able to join this first cohort of KSOC. They could receive travel reimbursement and optional same-day clinic appointments with an expert. KSOC was designed to serve our community while developing needed tools for Kabuki syndrome clinical trials.
Research coordinators at each institution helped families schedule their research appointment, optional clinical appointment, and discuss travel reimbursement. Before and during your appointment, families interacted with multiple professionals, including the research coordinator, neuropsychological expert, and data collection scientists.
Each individual involved in KSOC is key to its success and so appreciated. We would also like to sincerely thank the funders of KSOC who have made this project possible.
The Consortium Director, Dr. Clara Tang manages and is the main point of contact for KSOC, ensuring that the projects are on track. Dr. Tang also serves as KSF’s Chief Scientific Officer.
The KSOC Steering Committee includes:
- Dr. Bruce Bloom, KSOC Chair and KSF Chief Collaboration Officer
- Dr. Margaret Adam, Seattle Children’s Hospital & University of Washington*
- Dr. Evdokia Anagnostou, Holland Bloorview Kids Rehabilitation Hospital*
- Dr. Olaf Bodamer, Roya Kabuki Program at Boston Children’s Hospital*
- Dr. Jacqueline Harris, Kennedy Krieger Institute & Johns Hopkins University*
- Dr. Brittany Simpson, St. Jude Children’s Research Hospital & Le Bonheur Children’s Hospital
- Dr. Rosanna Weksberg, SickKids & University of Toronto*
- Tara Ghandour, a funding party representative
These individuals make up the decision-making party of KSOC, providing overall leadership and direction for the consortium. *You will see one of these Kabuki syndrome expert researcher-clinicians when you attend the KSOC appointment.
The KSOC Advisory Board includes:
- Dr. D. Winston Bellott, Whitehead Institute, Massachusetts Institute of Technology
- Dr. Hans T. Bjornsson, University of Iceland & Johns Hopkins University
- Dr. David Genevieve, Montpellier University
- Dr. Barbara Handelin, 90 / 10 Institute, former-CEO of Audacity Therapeutics
- Dr. Tjitske Kleefstra, Radboud University
These clinicians and researchers, as well as pharmaceutical and biotechnology experts, are using their expertise to help KSOC develop outcome measures and biomarkers. They offer valuable advice from outside the organization.
