The division of Human Genetics is an interdisciplinary unit of the Medical Faculty of the University of Berne and of the Department for BioMedical Research. Our main task is the analysis of hereditary diseases and genetic predisposition of multifactorial diseases on molecular level (gene, transcript, protein) in order to obtain correct diagnosis for patients, reliable carrier detection and prenatal diagnosis as well as to offer preventive procedures and prognostic information. Our research projects (supported by private foundations) are patient-oriented focusing mainly on lung diseases (cystic fibrosis, asthma), neuromuscular diseases (Duchenne muscular dystrophy, X-linked myotubular myopathy, mitochondrial diseases), liver diseases (hereditary haemochromatosis, Wilson disease), intellectual disability, autism spectrum disorders and the Möbius syndrome. The aim of our studies is to characterize the interaction between gene defects (genotype), epigenetic factors and clinical course (phenotype) in order to gain insight into the pathophysiology of the diverse diseases and to develop new prognostic tools as well as strategies for causal therapies. Moreover, we offer collaborations and support concerning mutation screening methods (Sanger sequencing and Next generation sequencing).
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