Research

Nonsense mutations transform a codon into a premature stop of protein translation and are the cause of 10% of cases of genetic diseases such as cystic fibrosis, Duchenne muscular dystrophy or hemophilia, and many forms of cancer. We are therefore at the interface between fundamental research and applied research. There is currently no treatment available for patients with these genetic diseases caused by a nonsense mutation.

Our goal is therefore to develop therapeutic approaches aimed at correcting nonsense mutations. For this, we are studying the mechanisms surrounding the recognition of premature termination codons and in parallel as a complementary way, we are looking for small molecules capable of correcting nonsense mutations. By using original screening systems, we test thousands of molecules or extracts from various libraries. The selected molecules are then validated on cellular and murine models carrying nonsense mutations and models of different pathologies such as cancer, cystic fibrosis or Duchenne muscular dystrophy.

The characterization of these molecules leads us to deepen our knowledge of the molecular mechanisms surrounding the recognition of premature termination codons. Because of our research theme with an applied aspect of interest for patients, we are supported by various organizations and patient associations that we would like to thank here.