We aim at the identification of the causative genetic variants for heritable phenotypes. We study primarily hereditary diseases, but also other heritable traits such as morphology or coat color. Domestic animal breeding practices in closed populations with a limited degree of inbreeding favor the expression of new recessively inherited traits. On the one hand, these can be desirable traits. On the other hand, inbreeding increases the risk for recessively inherited diseases. Therefore, close monitoring for new inherited diseases is of special importance when breeding purebred animals. The elucidation of genetic defects enables the development of genetic testing and sustainable breeding programs to avoid the birth of further affected animals. This line of research therefore directly contributes to improved animal health and welfare. At the same time, results from our research also provide insights into gene functions, which may have important implications for basic biomedical research and human medicine.
New technologies such as genome wide association studies (GWAS) and whole genome sequencing (WGS) enabled revolutionized genetic research during the last years. Sequencing the genomes of individual patients represents an element of precision medicine. Such cutting-edge approaches may already enable more precise diagnoses and individually tailored treatment options.