As a Pediatrician I was privileged to encounter children with rare unknown liver and gastrointestinal disorders. In close collaboration with Andreas Janecke and Lukas Huber we further characterize these “new” diseases applying next generation sequencing and cell culture models including organoids derived from hepatic and intestinal stem cells. In the last years we are able to unravel the molecular basis of five congenital enteropathies such as Microvillus inclusion disease and congenital sodium diarrhea.
Identification and functional characterization of gene defects in patients with rare inborn errors of metabolism