KSF Attends ERN-ITHACA 2025 Board Meeting Focused on Strengthening Global Collaboration for the Rare Disease Community

Progress in rare disease happens fastest when patients, clinicians, and researchers build solutions together, not in silos. This principle shaped the conversations and learning at the ERN-ITHACA Board and Research Meetings held in early December in Bergen, where the Kabuki Syndrome Foundation joined colleagues from across Europe for three days of discussion, shared experience, and collective problem-solving.

An Overview of the Board Meeting

The meeting opened with a strong focus on the role of patient communities. Rather than being seen only as contributors, patients and families were recognized as partners who help shape priorities in both care and research. This set the tone for the entire week and reinforced the central message: collaboration is what allows meaningful progress to happen.

Groups shared successes and challenges across care pathways, communication tools, and educational support for children with neurodevelopmental conditions. A consistent theme emerged. Families bring essential expertise that clinical and research teams depend on, and their lived experience ensures that systems of care and research priorities remain aligned with real needs.

Building Better Data, Together

Data – and how it can be collected, curated, and shared more effectively – was a central theme throughout the meeting. Across rare conditions, communities are grappling with similar questions: How do we gather meaningful data without overburdening families and clinicians? How do we ensure quality and consistency across countries and clinical settings? And how do we make sure the data truly serve both care and research?

Speakers emphasized the importance of FAIR data principles (Findable, Accessible, Interoperable, Reusable) and highlighted natural history studies and patient registries as the backbone of rare disease research globally. The shared learning across disorders emphasized how crucial international collaboration is for building robust, interoperable datasets that accelerate discovery.

Care Pathways and Support

Many sessions focused on how care pathways and support services can better address the needs of individuals with neurodevelopmental conditions and their families. Discussions included models that integrate medical care with education, mental health, and broader family wellbeing – reflecting a growing recognition that effective rare disease care must be holistic and coordinated.

These cross-country examples showcased how collaborative learning can drive practical improvements in support systems worldwide.

Celebrating ERN-ITHACA’s Leadership in Clinical Guidelines

ERN-ITHACA’s Guidelines Working Group shared progress on several new clinical guideline projects, representing years of coordinated effort across multiple expert centres. Developing high-quality guidelines for rare conditions is an inherently complex, multi-year process, and their achievements demonstrate what is possible through strong, coordinated, international collaboration.

As we continue advancing the Kabuki Syndrome Clinical Management Guidelines in collaboration with Dr. Siddharth Banka at the University of Manchester, it is encouraging to see such impactful work across the ERN-ITHACA network and to learn from the structures and processes that have supported these successes.

Moving Forward Together

The final day of the meeting highlighted ongoing research collaborations, from diagnostic pipelines and functional genomics to detailed genotype–phenotype studies across a broad range of rare disorders. These sessions reinforced the tremendous value of shared scientific infrastructure and collective problem-solving.

The ERN-ITHACA meeting showcased the strength of global collaboration – patient groups, clinicians, and researchers working side-by-side to advance understanding, improve care, and strengthen outcomes for rare disease communities worldwide.

We are grateful for the opportunity to participate and to connect with so many dedicated partners. We look forward to deepening these relationships as we continue building international pathways that benefit individuals and families living with Kabuki syndrome.