Laboratory of Pediatrics

Our work encompasses a wide range of metabolic diseases, including:

• Glycogen storage diseases
• Pediatric cholestatic liver diseases
• Fatty acid oxidation disorders
• Cystic fibrosis
• Obesity-and ageing-related metabolic disorders (i.e. fatty liver, glucose intolerance, insulin resistance)
• Cardiovascular diseases (i.e. atherosclerosis)
• Cancer

Research Approach

To investigate the etiology of these complex diseases and explore their molecular foundations, we employ a translational research approach that integrates human and mouse models and apply computational biology to investigate metabolic processes and their dysregulation across various pathological conditions.

Research Focus

Our key areas of investigation include:

• Nutrient sensing mechanisms
• Regulation of glucose and lipid metabolism
• Immuno-metabolism cross-talk
• Early-life nutritional influences on metabolic disease risk
• Intracellular trafficking processes
• Bile acids in health and disease
• Microbiome-mediated interactions in disease development
• Mathematical modeling of metabolic pathways and disease processes

Our methodologies include:

• Population- and family-based human studies
• Mouse models generated through embryonic stem cell targeting and CRISPR/Cas9 technology.
• Stable isotope technologies in both human and mouse models,
• In vitro and ex vivo cell systems
• Advanced characterization techniques such as molecular biology methods, proteomics, single-cell genomics, and
• Bioinformatics to analyze and interpret large datasets
• Computational modeling using mathematical models and computational simulations 

Through this comprehensive research strategy, the Laboratory of Pediatrics strives to advance our understanding of metabolic health and disease, paving the way for innovative diagnostic tools and therapeutic interventions.

Our facilities

• Transgenic Mouse Clinic for Ageing Research
• Interfaculty Mass Spectrometry Center (IMSC)