Our group studies genetic mechanisms underlying different human pathologies. We aim to introduce evolutionary and functional genomics in medical reasearch to facilitate disease understanding and promote personalized medicine. We use methods at the crossroads between molecular biology and bioinformatics.
Gene conservation in mammals is currently our best predictor of whether or not a DNA sequence contributes to disease development. Comparative genomics contributes to the identification of genes underlying shared traits which are ancestral to mammals. Introducing evolutionary pressures to quantify the involvement of a gene in specific adaptations can be a valuable tool for human genetics risk score assessments and personalized medicine.
We are using computational approaches for de novo genome assemblies, gene annotation, evaluation of natural selection, differential gene expression and splicing analyses. We have created R-shiny applications to improve large data analyses of collaborators without programming background. We have a long standing collaboration with the bioinformatics group of Dr. Janet Kelso from Max Planck Institute of Evolutionary Anthropology.
Identification of novel disease-causing genes
In collaboration with medical geneticists and especially with Prof. Jamra and Prof. Lemke, we have delineated several mendelian disorders. Our team further focuses on understanding the molecular mechanism underlying these disorders using molecular biology techniques to manipulate the gene and identify affected biological pathways in different model organisms.