Published May 22, 2025

Key Insights

  • The Citrin Foundation and University of Zürich have established the world’s first center dedicated to translational research in urea cycle disorders with a CHF$10 million commitment over ten years.
  • Led by Professor Johannes Häberle, the center will focus on biomarker discovery, liver metabolic function research, novel therapy development including gene therapy, and clinical trial readiness.
  • The initiative aims to bridge the “valley of death” between laboratory discoveries and clinical applications for rare metabolic diseases that currently have no curative treatments beyond liver transplantation.

The Citrin Foundation and the University of Zürich have launched the world’s first center dedicated exclusively to translational research in urea cycle disorders (UCDs). Hosted at the Children’s Research Center of the University Children’s Hospital Zürich, this groundbreaking initiative represents a strategic approach to bridging the gap between scientific discovery and clinical application in rare metabolic diseases.

With a substantial CHF$10 million commitment over ten years from the Citrin Foundation, the “UCD Translational Center Universität Zürich – Citrin Foundation” aims to overcome the persistent challenges that have historically prevented promising laboratory discoveries from reaching patients with rare diseases.

“The science is moving fast—but unless we build the infrastructure to carry it forward, patients won’t see the benefit,” said Barbara Yu, Co-Founder and President of Citrin Foundation. “This Center brings together the right people, the right environment, and the long-term commitment needed to bridge that gap.”

 

Addressing the Translational Gap in Rare Diseases

Urea cycle disorders, a group of rare genetic conditions affecting the body’s ability to remove nitrogen from the bloodstream, currently have no curative treatments beyond liver transplantation. While scientific advances in rare disease research are progressing rapidly, the translation of these discoveries into effective therapies remains challenging.

 

The new center is specifically designed to address what experts call the “valley of death”—the critical gap between laboratory discoveries and clinical applications. This gap is particularly pronounced in rare diseases due to fragmented research systems, geographically dispersed patient populations, limited funding, and lack of coordinated strategy.

Professor Johannes Häberle, the Center’s Director and a globally recognized expert in urea cycle disorders, emphasized the importance of this approach: “We’ve made enormous scientific strides in recent years, but to make a difference for patients, we need to bring discovery and delivery closer together. This Center is structured to do exactly that—through rigorous science, thorough clinical understanding, global collaboration, and shared commitment.”

Strategic Research Priorities

The Center will employ a comprehensive translational strategy that addresses the full spectrum of urea cycle disorders, using citrin deficiency—a complex, monogenic condition—as a starting point. The research program will focus on four high-impact priorities:
  1. Multi-omic biomarker discovery
  2. Liver metabolic function research
  3. Development of novel therapies, including gene therapy
  4. Clinical trial readiness
This approach leverages the overlapping metabolic mechanisms and clinical profiles shared across urea cycle disorders, creating opportunities for cross-disease applications despite the small patient populations affected by each individual condition.

A Model for Rare Disease Research

Beyond its immediate focus on urea cycle disorders, the Center aims to establish a blueprint for effective translational research in rare diseases more broadly. By integrating discovery, development, infrastructure, and patient engagement into a coordinated ecosystem, the initiative offers a potential model for addressing similar challenges across the rare disease landscape.

“This Center exemplifies how science should serve medicine: by ensuring discoveries are not only made but applied meaningfully,” said Professor Sir John Walker, Nobel Laureate and Chairman of the Scientific Supervisory Board at Citrin Foundation. “What is being built here in Zürich has the potential to transform the way we think about translating complex biology into clinical solutions.”

Yen How Tai, Co-Founder of Citrin Foundation, added: “This Centre is a blueprint for how rare disease research can and should work. We’re combining focused science with systems thinking, and making the long-term investment needed to align discovery, infrastructure, and patient voices from the start.”

Global Collaboration and Leadership

The Center’s official launch event in Zürich on May 22, 2025, will bring together international leaders in translational research, science, medicine, and rare disease advocacy, including:
  • Barbara Yu and Yen How Tai, Co-Founders of Citrin Foundation
  • Professor Johannes Häberle, Center Director
  • Professor Sir John Walker, Nobel Laureate and Chairman of the Scientific Supervisory Board at Citrin Foundation
  • Professor Kimitoshi Nakamura, Director of the Center of Excellence for Citrin Deficiency at Kumamoto University, Japan
This international participation underscores the Center’s commitment to fostering global collaboration in addressing the challenges of rare disease research and treatment development.

 

Institutional Strength and Support

The Center benefits from the institutional support of the University Children’s Hospital Zürich, one of Europe’s leading centers for pediatric and metabolic medicine, and the University of Zürich Switzerland’s largest university and a prominent institution in biomedical research.

The hospital’s state-of-the-art facilities and strong background in metabolic diseases provide an ideal environment for the Center’s ambitious research agenda, while the university’s commitment to interdisciplinary innovation and academic excellence offers a solid foundation for long-term success.

As new therapeutic modalities, including gene therapy, emerge on the horizon for urea cycle disorders, the Center is positioned to play a pivotal role in translating these scientific advances into meaningful clinical solutions for patients with these rare but devastating conditions.

MedPath Press Release Article: https://trial.medpath.com/news/520a6b8f8d43f98f/citrin-foundation-and-university-children-s-hospital-zurich-launch-pioneering-center-for-urea-cycle-disorders-research