Urea Cycle Disorders (UCDs)

Urea Cycle Disorders (UCDs) are a group of rare, monogenic disorders that affect the ability of the urea cycle pathway to clear ammonia from the body and to maintain an efficient redox metabolism in the mitochondria. Ammonia is a toxic byproduct of protein metabolism, and alterations in the urea cycle can lead to its accumulation in the blood, resulting in hyperammonemia. Additionally, UCDs can lead to metabolic disturbances that cause lifelong complications. Our research aims at improving diagnosis and developing new therapeutic approaches for UCDs. Key areas of investigation include: 

  • Diagnostics including functional pathway analysis
  • Treatment strategies
  • Gene therapies
  • Research methods and model systems

Research Projects

Stethoskop
Erste-Hilfe-Koffer
Icon Tablettenblister pink
Forschung

Publications

Our Team

Team Leader

Post Doctoral Fellows

PhD Students

Laboratory Technicians

Nadia Zürcher

BSc
Nadia
Zürcher

Wissenschaftliche Mitarbeiterin
Stoffwechselkrankheiten
Urea Cycle Disorders
Veronique Rufenacht

MSc
Véronique
Rüfenacht

Wissenschaftliche Mitarbeiterin
Stoffwechselkrankheiten
Labor Stoffwechsel
Urea Cycle Disorders
Erica Faccin UCD

MSc
Erica
Faccin

Wissenschaftliche Mitarbeiterin
Stoffwechselkrankheiten
Urea Cycle Disorders

Resident physician in pediatrics

Lara Schönig UCD

Dr. med.
Lara
Schöning

Assistenzarzt
Urea Cycle Disorders

UREA CYCLE DISORDERS TRANSLATIONAL CENTER UNIVERSITÄT ZURICH - CITRIN FOUNDATION

Urea Cycle Disorders Translational Center aims to change the landscape of research by translating innovative therapies from the laboratory bench to the clinic, focusing on providing new treatments perspectives that could help, give hope and improve the quality of life of patients suffering from any of the urea cycle disorders. The center has been stablished through the collaboration of the University of Zürich & Citrin Foundation, under the auspices of the UZH Foundation and hosted at the Children’s Research Center of the University Children’s Hospital Zurich.

UCD TRANSLATIONAL RESEARCH PROJECTS

UCD Translational Center Team

Director

Johannes Häberle

Prof. Dr. med.
Johannes
Häberle

Leitender Arzt
Fachbereichsleitung Stoffwechsellabor
Stoffwechselkrankheiten
Labor Stoffwechsel
Schwerpunkte: Angeborene Stoffwechselkrankheiten, Neonatologie, Intensivmedizin

Clinical Program Manager

Pei Jin Lim

Dr. sc. nat.
Pei Jin
Lim

Senior Scientist
Labor Stoffwechsel
Forschungsgebiet: Hereditary diseases of the connective tissue (Osteogenesis Imperfecta, Ehlers-Danlos Syndrome); Urea Cycle Disorders

Researcher

Roman Iwasaki UCD

PhD
Roman
Iwasaki

Postdoctoral Researcher
Stoffwechselkrankheiten
Urea Cycle Disorders

Clinical Research Coordinator

Juliana Wild UCD

Dr. med.
C. Juliana
Wild

Wissenschaftliche Mitarbeiterin
Stoffwechselkrankheiten
Urea Cycle Disorders

Alumni

PostDocs

Georgios Makris, 2022-2024
Gabriella Allegri, 2014-2019
Carmen Diez-Fernandez, 2014-2018 
 

PhD Students, graduating

Georgios Makris, 2022
Liyan Hu, 2015 
 

Medical students, graduating

Semih Kayhan, 2022
Andrea Wicht, 2022
Matthias Lauber, 2021
Nina Hediger, 2018
Olivia Wellauer, 2016
Caroline Unsinn, 2016
Corinne Inauen, 2016
Fabienne Stoller, 2015
Corinne Rüegger, 2014
Cécile Balmer, 2014
Rita Kretz, 2011