WDFY3/Bchs molecular pathways and involvement in brain size
Started in March 2021
Mutants of WDFY3/Bchs can affect brain size and cause a moderate neurodevelopmental disorder. To understand the underlying molecular mechanism we will create Drosophila mutants, which we will molecularly and morphologically characterize.
Mechanisms of lipid accummulation
Started in August 2021
As part of the Collaborative Research Center 1052 funded by DFG at the University of Leipzig we are working towards a better understanding of lipid accummulation mechanisms. We joined efforts with Dr. Antje Garten's group and we are using lipomas as model for lipid accummulation. At the same time we are collecting data on patients with PTEN germline variants who develop lipomas and adipose tissue redistriution. Our group aims to develop methods that allow the integration of a comparative genomics framework for a better genotype-phenotype association and identification of novel genes involved in lipid accummulation.
Do synonymous variants show a functional impact?
Started in June 2023
While the direct impact of synonymous variants might be subtler than non-synonymous variants (that alter the amino acid sequence), their effects on various cellular processes are increasingly being recognized. We aim to better understand this field and use large human genomic datasets and computational analyses to uncover the broader implications of synonymous genetic variants in disease susceptibility.