From 22–24 April 2026, the Citrin Foundation was pleased to attend The 3rd International Conference on Ureagenesis Defects and Allied Conditions 2026, held at The Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli, Italy.

The three-day conference brought together researchers, clinicians, and professionals from several countries to discuss recent advances in ureagenesis defects and allied conditions. The meeting provided an important opportunity for scientific exchange, collaboration, and connection across the field, with presentations and discussions spanning clinical research, disease mechanisms, therapeutic developments, and patient-centred perspectives.

The Citrin Foundation was grateful for the opportunity to contribute to the programme through three presentations, each highlighting a different aspect of our work to advance understanding, research, and patient engagement in citrin deficiency.

Insights from Lived Experience of Citrin Deficiency Patients

Explored whether patient experience could help to illuminate the functional and psychological consequences of underlying metabolic disruption. Presented findings from a patient-organisation-led qualitative survey of seven adults with CD, alongside other complementary data. Systematically eliciting patient experience can inform both research priorities and the development of fit-for-purpose patient-reported outcome measures (PROMs) grounded in disease biology.

Barbara Yu, Co-Founder and President

An Ecosystem Approach to Citrin Deficiency: Progress, Lessons Learned, and Remaining Gaps

Lessons learned to date, including the importance of proactively linking basic biology to preclinical validation to human studies, strategic selection and development of therapeutic approaches, sustained investment in infrastructure and clinical trial readiness, embedding patient-centred data and feedback into research prioritisation, and designing effective pathways to deliver treatments to patients.

Su Kit Chew, Senior Director of Translational Research and Partnerships

Beyond Advocacy: Co-Creating Citrin Deficiency Research with the Patient Community

Introduced a co-creation model to connect patients, clinicians, and academics around shared scientific goals. By organising and empowering a rare disease community, patient-led organisations can generate the infrastructure, data, and partnerships that enable the science. Presented this work to highlight what patient-led organisations can facilitate as co-creators in rare disease research.

Yurika Asami, Senior Patient Engagement and Research Program Officer

We are deeply grateful to the organisers, Nicola Brunetti Pierri and Leandro R. Soria, for hosting such an impactful and engaging conference. It was a valuable opportunity to take part in meaningful scientific discussions, foster new connections, and spend time with colleagues and friends across the field.

We look forward to continuing these conversations and building on the collaborations and insights shared during the conference.