Miriam Schmidts ORCiD

Faculty of Medicine and Medical Center – Center for Pediatrics and Adolescent Medicine, Pediatric genetics Division

RESEARCH: Human Genetics, Developmental Biology, Signal Transduction, Cell Biology, Ciliopathies, Kidney Diseases, Skeletal defects, Neurodevelopmental Diseases

METHODS: NGS, Gene editing, Transcriptomics, Proteomics (collaboration with Oliver Schilling. Pathology, University Hospital Freiburg), Metabolomics (collaboration with prof. Spiekerkötter), EM (in external collaboration)

TECHNOLOGIES: CRISPR/Cas gene editing vectors, NGS

Anna Köttgen ORCiD

Faculty of Medicine and Medical Center – Institute of Genetic Epidemiology

RESEARCH: Genetic determinants of Metabolite Levels, Metabolite Transport Proteins, Metabolite handling in Kidney, Inborn Errors of Metabolism, Complex metabolic Diseases, Pharmaco-metabolomics

METHODS: Population-scale genetic screens, whole-exome sequencing, multi-Omics data integration (e.g., metabolomics and genomics), non-targeted metabolomics by MS, statistical data analysis of (non-)targeted MS and NMR metabolomics, pathway analysis