Almost 20% of genetic diseases originate from a post-transcriptional misregulation of gene expression that is often caused by splicing, RNA editing or translation defects. The knowledge of parameters involved in these misregulations at the molecular level can help understanding these diseases and finding out new ways of treatment. Example of diseases we investigate the molecular mechanism of, are Spinal Muscular Atrophy (SMA), Myotonic Dystrophy (DM) or Amyotrophic Lateral Sclerosis (ALS). Our key technique to investigate structurally these mechanisms is the Nuclear Magnetic Resonance (NMR) spectroscopy which allows us to solve the structures of key protein-RNA complexes, which we combine in an interdisciplinary approach with a range of cell-culture, biochemical, biophysical and computational techniques.
Since 2014, our lab is part of the SNF NCCR RNA and Disease which aims at understanding more generally the role of RNA in disease.