UCD Translational Center
Universitäts-Kinderspital Zürich
Lenggstrasse 30
8008 Zürich
Universitäts-Kinderspital Zürich
Lenggstrasse 30
8008 Zürich
Harnstoffzyklusstörungen
Das Kinderspital Zürich ist europaweit die einzige Institution, welche molekulargenetische Untersuchungen für alle Harnstoffzyklusstörungen anbietet. Auch dazu forschen die Wissenschaftlerinnen und Wissenschaftler am Kinderspital Zürich. Verwendet werden verschiedene Expressionssysteme zur Charakterisierung von natürlich auftretenden Mutationen. Diese Analysen dienen als Basis für neue Behandlungsansätze.
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
Harnstoffzyklus-Störungen (UCDs)
Harnstoffzyklus-Störungen (UCDs) sind eine Gruppe seltener, monogener Erkrankungen, die die Fähigkeit des Harnstoffzyklus beeinträchtigen, Ammoniak aus dem Körper zu entfernen und einen effizienten Redoxstoffwechsel in den Mitochondrien aufrechtzuerhalten. Ammoniak ist ein toxisches Nebenprodukt des Proteinabbaus, und Störungen in diesem Zyklus können zu einer Anreicherung von Ammoniak im Blut führen, was eine Hyperammonämie zur Folge hat. Darüber hinaus können UCDs zu weiteren metabolischen Störungen führen, die lebenslange Komplikationen verursachen. Unsere Forschung konzentriert sich auf die Verbesserung der Diagnostik und die Entwicklung neuer therapeutischer Ansätze für UCDs. Wichtige Forschungsschwerpunkte sind:
- Diagnostik
- Behandlungsstrategien
- Gentherapien
- Forschungsmethoden und Modellsysteme
Research Projects
Diagnostics
We are identifying novel biomarkers to diagnose UCDs more quickly and accurately and assess the biochemical state of patients using pathway flux studies.
Treatment
We are investigating how anaplerotic agents such as nutritional supplements can support the formation of urea and the energy metabolism in cells with a dysfunctional urea cycle.
Gene therapy
There is currently no cure for UCDs. We are developing therapies to correct the underlying genetic defect of UCDs to restore a normal liver function in patients.
Research methods
In order to investigate UCDs, accurate model systems are needed. We are working to define cell lines or animal models that faithfully recapitulate the metabolic defects observed in UCD patients.
Team Urea Cycle Disorder
UCD Translational Center - Universität Zürich - 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.
Research Projects UCD_TC
OMICS STUDY
The main goal of this study is to uncover disease-specific biomarkers by analyzing blood samples collected from CD patients using both targeted and untargeted metabolomics, proteomics, lipidomics, and transcriptomics.