A medical molecular geneticist specialized in structural variants, repetitive regions and rare neuromuscular disorders. The development and application of new diagnostic methods and uncovering novel mutational mechanisms lie in the center of my work.
Variants in the Y-box binding protein 3 ( YBX3 ) gene have been connected to Nemaline myopathy. To better understand the impact of these variants, we are working on localization and interaction studies of the wild-type protein and the variants. Part of the work was performed collaboration with Stephan Lange's group at the University of California San Diego and is now continued as part of a Masters thesis project.
Titin and nebulin, two gigantic sarcomeric proteins, both contain segmental duplication regions in their sequences, and harbor both normal and pathogenic copy number variation. These blocks are challenging to analyze by both Comparative Genomic Hybridization array methods - therefore we are developing ddPCR based assays for the analysis of these regions. The method is under validation, and will be subject for a manuscript in the near future.