Kabuki Syndrome Foundation to Host Monthly Global Research Meeting to Facilitate Treatment Development

During our annual Medical & Scientific Advisory Board meeting, we secured commitment from the global leaders in Kabuki syndrome research to engage in monthly meetings open to all researchers and clinicians with an interest in Kabuki syndrome.

On February 8, 2024, the Kabuki Syndrome Foundation (KSF) virtually hosted the annual meeting of our Medical & Scientific Advisory Board (MSAB). This meeting served as a catalyst for collaboration and brought together brilliant minds dedicated to overcoming challenges in Kabuki syndrome research and treatment development. A particularly major milestone was the commitment of our MSAB members and representatives to meet virtually on a monthly basis, in a lab update-style meeting hosted by KSF. 

All researchers and clinicians with an interest in Kabuki syndrome are invited to this monthly lab meeting; institutions will present updates on a rotating basis. This collaboration underscores the foundation’s critical role in facilitating a cooperative approach among the world’s leading researchers and clinicians in discovering treatments for Kabuki syndrome. Thanks to the Kabuki Syndrome Foundation, they will now be working closer together than ever before. 

The annual meeting has also propelled a series of strategic resolutions based around KSF’s LEAP roadmap to treatments.

By establishing priorities such as developing clinical trial endpoints, understanding therapeutic windows, and elucidating the molecular basis of the syndrome, KSF is paving the way for accelerated therapeutic discoveries. The foundation’s dedication to enhance collaboration through gathering researchers and aggregating resources and reagents streamline research efforts, ensuring that advancements are efficiently shared within the community. Collaboration is critical to accelerating progress in rare disease research.

Separately, the commitment to convene the first-ever in-person meeting of MSAB members to finalize comprehensive, evidence-based clinical management guidelines in 2025 will be a momentous milestone to improving patient care for all individuals affected by Kabuki syndrome. This event underscores KSF’s pioneering role in not just fostering research collaboration, but also in directly enhancing the quality of life for those affected by Kabuki syndrome through improved clinical practices.

Dive into the 2024 MSAB Meeting Agenda

Throughout the interactive MSAB meeting, we explored new ways of working together and are poised to pave the way to an exciting era of progress and possibility. Key segments and outcomes of the meeting included:

  • Identifying the Challenges & Gaps in Kabuki Syndrome (KS) Therapeutic Discovery
    • Advisors shared their biggest barriers to treatment discovery in KS and during an anonymous vote, members selected their top three responses. The resulting priorities were: (1) developing clinical trial endpoints and outcome measures; (2) understanding the therapeutic window of KS; and (3) increasing understanding of the molecular basis of KS.
      • Interestingly, in 2023, (1) endpoints and outcome measures and (2) increasing understanding of the molecular basis of KS were also voted as the top research priorities. 
      • Our annual collaborative Discovery Grant addresses these two priorities. In 2023, we also launched KSOC, the Kabuki Syndrome Outcome measure and biomarker Consortium. The focus of KSOC over the next two years is to develop three potential biomarkers for use as clinical trial endpoints.
  • Enhancing Collaboration Among the KS Research Community
    • We explored avenues for fostering stronger collaboration between all stakeholders and discussed innovative approaches to leverage resources and expertise to ensure research advancements are shared and unnecessary duplication of work is reduced. 
      • KSF will begin hosting monthly virtual scientific meetings for researchers and lab/clinic staff to facilitate knowledge exchange. Attendees will be invited to share relevant updates and discuss solutions to challenges that they are facing in their research.
      • Additionally, advisors were committed to sharing submitted manuscripts (or pre-prints) alongside a summary that highlights the project’s relevance to the KS community with KSF. 
      • KSF will identify, aggregate, and distribute a guide to key current research resources and reagents (e.g. mouse models) so that academic and industry scientists can use them to advance KS research quickly. 
      • When available, KSF will share KSOC data collection protocol so that they may be referenced to facilitate standardized data collection and future research.
  • Updating the Clinical Management Guidelines
    • All advisors in attendance are willing to attend an in-person meeting in 2025 to finalize the new clinical management guidelines.
    • KSF will organize an in-person meeting for this global collaboration that will result in improved clinical care recommendations for everyone with Kabuki syndrome. 
  • Collaborating with Our Rare Disease Cousins
    • We discussed current opportunities for collaboration with related disease foundations and research communities.
    • KSF will continue to support and share projects that capitalize on shared characteristics within the rare disease community.

These outcomes represent tangible steps towards a future where effective treatments for Kabuki syndrome are within reach, demonstrating KSF’s unwavering commitment to those affected by this condition.

For further information or to join the monthly lab meetings, researchers and clinicians are encouraged to contact Dr. Clara Tang by emailing