On 22 May 2025, the Citrin Foundation and the University of Zürich—together with the UZH Foundation—announced the launch of a groundbreaking initiative: the world’s first center fully dedicated to translational research in urea cycle disorders (UCDs).

Located at the Children’s Research Center of the University Children’s Hospital Zürich, UCD Translational Center Universität Zürich – Citrin Foundation marks a transformative step in rare disease research. It’s designed from the outset to bridge the gap between scientific discovery and clinical application—turning promising research into real-world treatments.

With a CHF $10 million commitment over ten years from the Foundation, the Center is uniquely positioned to accelerate progress in UCDs. It is currently lacking curative therapies beyond liver transplantation. However, breakthroughs in therapeutic modalities, including gene therapy, are on the horizon. The challenge lies in translating these scientific advances into accessible, effective treatments.

By using citrin deficiency as a model disease, the Center aims to build a scalable model for translational research that addresses the broader family of urea cycle disorders. These rare conditions share overlapping metabolic pathways and clinical features—making them ideal for a unified, cross-disease approach that emphasizes clinical impact and scalability.

Led by Professor Johannes Häberle, a clinician scientist and a global expert in UCDs and inherited metabolic disorders, the Center will focus on high-priority translational research areas such as:

• Multi-omics biomarker discovery
• Liver metabolic function research
• Development of novel therapies, including gene therapy
• Clinical trial readiness

This milestone brings us ever closer to our ultimate goal: curing citrin deficiency, whilst also making a lasting impact on the wider rare disease landscape.

Links:
1. UCD Translational Center Universität Zürich