We are proud to be part of an international collaboration to create updated Clinical Management Guidelines for Kabuki syndrome—in an effort to improve medical care and outcomes for people living with this complex condition.
The project is being led by Dr. Siddharth Banka, Professor of Genomic Medicine at the University of Manchester, and involves over 50 clinicians and researchers from across the globe. The guidelines will provide clear, evidence-based recommendations for clinicians across 14 clinical areas, from cardiology to immunology, ENT to neurology, and much more.
The culmination of this work takes place this May in Boston, where the Kabuki Syndrome Foundation will host a Consensus Meeting to finalise the guidelines. We’re thrilled that Sally Trewartha, Chair of Kabuki UK and mum to Harry, will be in attendance, representing the UK patient community alongside other global voices.
“It’s been amazing to watch this truly global collaboration take shape,” said Sally. “The effort going into these guidelines is extraordinary, and it’s brilliant to see it all coming together in Boston. As a parent, I know how important it is to have trusted, standardised information to guide medical decisions—we’re incredibly proud to be part of this initiative.”
Kabuki UK has been involved since the early stages. We began working closely with Dr. Banka in 2018, providing £10,000 in initial funding to support the foundation of the project. Since then, our community has continued to contribute expertise, time, and lived experience to help shape the guidelines.
We’re also proud to share that Kate Blackmore, Kabuki UK Trustee and ENT Consultant, is one of the contributing clinicians and is leading the Feeding, ENT and speech section of the guidelines. Additionally, Matthew McAndrew, a Kabuki UK community member and participant on KSF’s Research Committee, will be attending the Boston meeting as a lead on the Kidney and Genitourinary, Prenatal & Neonatal working groups, while also contributing to two other clinical themes.
“It’s a privilege to be part of this consensus effort,” said Matt. “As someone who lives this experience daily, I see just how critical these guidelines will be—not only to streamline care but to help clinicians make informed, consistent decisions. It’s collaborative efforts like this that bring us closer to the care our community deserves.”
The Clinical Management Guidelines are a major milestone for the global Kabuki syndrome community. For families and clinicians alike, they will offer an invaluable resource—providing clarity, consistency, and confidence in clinical decision-making, no matter where in the world a patient is diagnosed.
Kabuki UK is honoured to support and contribute to this critical initiative. We look forward to sharing more updates following the Boston Consensus Meeting.
