Human Genetics

We are broadly interested in the genetic and molecular basis of human diseases. We analyze family pedigrees and search for genetic causes of inherited disorders. A multitude of technologies are applied to help families to understand the molecular basis of their diseases. Among others, these technologies include up to date sequence analysis (Next Generation sequencing and Sanger sequencing), linkage, and homozygosity mapping. Different techniques originating from molecular biology, cell culture and therapy development are used to study the diseases and identify treatment possibilities.

Our research focuses on the clinical group of neurosensory diseases, which include several different eye diseases, retinal dystrophies and hearing deficits. Retinal dystrophies and hearing deficits are among the most heterogeneous diseases known so far, e.g. retinal diseases include more than 20 different clinical diagnoses and are caused by mutations in over 200 genes. Only about 60% of the cases can be explained by the known disease-associated genes, implicating that additional genetic causes are to be discovered. Nevertheless, genetic heterogeneity and clinical variability are obstacles for the identification of disease-associated genes. To overcome these obstacles, Next Generation Sequencing is the method of choice and enables the analysis of all genes in parallel.

Figure legend: The complexity in retinal diseases. Retinal degenerations are associated with mutations in over 200 different genes. Several clinical diagnoses can be distinguished. Many genes cannot be associated with a clear genotype-phenotype correlation and, consequently, mutations in these genes may cause different phenotypes in patients.