Metabolism research at the Freiburg Center for Pediatrics encompasses basic and translational research focusing on genetic disorders of energy metabolism and is closely linked to patient care.
We are the national center of competency for the diagnostics and therapy of mitochondrial fatty acid oxidation disorders and glycogen storage diseases. In the field of mitochondrial fatty acid oxidation disorders, we focus on early risk stratification after newborn screening to implement a personalized therapy.
Our basic research aims to elucidate the pathophysiology of these disorders and disease phenotypes in mouse and cell models. We are especially interested in different endogenous compensatory mechanisms triggered by external stimuli such as dietary modifications, exercise and environmental effects that may modify disease phenotypes and contribute to complex genotype-phenotype associations.
We employ systems biology to investigate how single enzyme deficiencies impact multiple and distinct metabolic networks. In different projects we apply metabolomics and computational modelling to analyze metabolic networks and interactions between organelles.
Further information on our research themes is available under the specific Research Group pages below. The groups work in close collaboration.
Translational Metabolomics Core Facility
Our Translational Metabolomics Core Facility (headed by Dr. Luciana Hannibal) supports collaborative research projects with internal and external partners and works in close collaboration with the Proteomics Core Platform and the Genomics Core Facility (linked site in German) at the Medical Center, University of Freiburg.
Translational research projects include clinical and therapy studies. Clinical studies are performed in close collaboration with patient organisations.
Researchers and patients are welcome to contact us about clinical studies using the email address email@example.com.
Inborn errors of metabolism with a renal phenotype
Metabolism and Cofactor Enzymology
Karl Otfried Schwab