Clinical metabolomics and metabolic diagnostics
Metabolomics, genetic metabolic disease, diagnostics
Research aim
Our research, focusing on metabolic disturbances, aims to improve diagnostics, to enable treatments, and to contribute to the development of novel therapies. The impact extends from individual patient care to a broader understanding of human disease.
About us
Our goal is to unravel the intricate biochemical mechanisms underlying (genetic) diseases, improving diagnostics, treatment, and preventive strategies. Our approach is multidisciplinary, combining molecular biology, biochemistry, mass spectrometry, metabolomics, and data science.
We partner with clinicians, companies, and experts in related fields.
Our focus is on:
• PLPHP deficiency, a vitamin B6-responsive genetic epilepsy, is only partly understood. Using different models, including zebrafish and yeast, we investigate its molecular mechanism.
• Defects in the malate aspartate shuttle impact energy metabolism. We investigate the broader metabolic consequences and potential treatments by metabolomics and fluxomics in cellular models and patient samples.
• For hereditary anemias, including pyruvate kinase deficiency and sickle cell disease, we develop new methodologies to improve diagnostics and prognostics and to monitor effects of treatment.
• In chronic fatigue, exercise intolerance and post exertional malaise (including ME/CFS and long Covid) we study disturbances of metabolism. We pay specific attention to glutamine and glucose as carbon sources for energy production in immune cells.
We advance diagnostics by untargeted metabolomics to identify metabolic signatures, enabling early detection, personalized treatments, and a deeper understanding of disease mechanisms. Data analytics, including algorithms, aids in diagnostic pattern recognition and biomarker discovery.