From 2nd–6th September 2025, over 2,000 attendees from across the globe came together in Kyoto, Japan to exchange knowledge and inspire progress in the field of inherited metabolic diseases at the International Congress of Inborn Errors of Metabolism (ICIEM). The Citrin Foundation had a strong presence throughout the meeting, reflecting our commitment to advancing our mission to find a cure for citrin deficiency and to drive innovation in the rare disease field. The highlights below showcase some of the key moments where our work and collaborations made a meaningful impact.
The conference opened with an inspiring keynote lecture by Professor Sir John Walker, Nobel Laureate in Chemistry (1997) and Chairman of the Citrin Foundation’s Scientific Supervisory Board. His talk, “My Life in the Mitochondria,” traced his pioneering research on ATP synthase—which earned him the Nobel Prize—and reflected on a lifetime of scientific dedication.
We were especially honoured that Professor Walker highlighted his involvement in the discovery of the citrin protein, which first sparked his interest in citrin deficiency. His words reaffirm the important connection between his groundbreaking work and the Citrin Foundation’s mission: to advance research, raise awareness, support patients, and develop effective treatments for citrin deficiency worldwide.
The Citrin Foundation proudly organised a landmark symposium exploring how one inborn error of metabolism—citrin deficiency (CD)—can serve as a model for global translational innovation. Co-chaired by Professor Kimitoshi Nakamura and our Co-Founder and President, Barbara Yu, the session brought together leading experts from Japan, Europe, and the United States.
Speakers addressed diverse and pressing themes, including:
- Understanding Citrin Deficiency Within the Spectrum of Liver Metabolic Diseases and Urea Cycle Disorders – Johannes Häberle
- Metabolic Flux Analysis and New Biochemical Insights in Citrin Deficiency – Marc Hellerstein
- Correcting Genetic Liver Diseases by Prime Editing – Gerald Schwank
- The Status of Adult Patients with Citrin Deficiency in Japan – Jun Kido
- Proteomic Approaches to Newborn Screening for Citrin Deficiency – Yoichi Wada
- Financial Realities and the Way Forward for Novel Therapies in Rare Diseases – Barbara Yu
This multidisciplinary dialogue underscored citrin deficiency’s potential to bridge basic science, emerging therapies, and real-world patient care.
At a conference plenary session, Barbara Yu co-hosted with Marshall Summar, M.D., to welcome Professor Marinka Žitnik (Harvard University), a world leader in applying AI to biomedical science.
Professor Žitnik’s lecture, “Empowering Biomedical Research with AI Scientists,” captured the imagination of attendees. The Citrin Foundation also convened a closed-door roundtable with Professor Žitnik and an international group of leading clinicians and researchers.
Key themes included:
- The potential of AI to transform the study of inherited metabolic disorders, including citrin deficiency
- Opportunities for AI to accelerate drug discovery, clinical translation, and patient care
- Collaborative pathways to harness cutting-edge technologies for meaningful breakthroughs
We are deeply grateful to Professor Žitnik and all participants for contributing to this forward-looking exchange.
As part of the satellite meetings to ICIEM, the 6th International Symposium on UCDs brought together the global research community to share discoveries, strengthen collaborations, and inspire the next generation of investigators.
The meeting, co-hosted by the National Urea Cycle Disorders Foundation (NUCDF) and UCDC, was co-chaired by Andrea Gropman and Tresa Warner. The Citrin Foundation was proud to serve on the organising committee.
In a joint session, Barbara Yu (Citrin Foundation) and Tresa Warner (NUCDF) presented “Innovative Therapies: Patients’ Expectations.” This session highlighted the need to integrate scientific progress with patients’ lived experiences, ensuring that new therapies are shaped by patient-centered innovation.
The symposium was a deeply enriching and collaborative event, reinforcing the global commitment to advancing therapies for UCDs and related metabolic disorders.
