Our lab studies genome protection using the BRCA2 protein as a model, exploring its role in breast cancer susceptibility. We found new partners of BRCA2 through interaction studies, including RNA helicases. BRCA2 deficiency leads to DNA-RNA hybrids accumulation, which we addressed with the RNA helicase DDX5 collaboration (Sessa et al EMBOJ 2021).

Our research focuses on understanding how mitochondrial bioenergetics contribute to various cellular functions. Mitochondrial metabolism goes beyond ATP production and plays roles in cell death control, immunity, and oncogenesis. Impaired mitochondrial function is linked to metabolic disorders. We study mitochondrial metabolism's role in skeletal muscle pathophysiology, particularly the formation of muscular tubular aggregates (TA) caused by chronic mitochondrial dysfunction. TA is associated with various disorders.

The laboratory's research focuses on understanding the role of autophagy, a cellular degradation process, in various biological contexts. Autophagy plays a crucial role in maintaining cellular homeostasis and protecting against diseases like cancer, inflammation, and neurodegenerative disorders. The lab specifically investigates the functions of different components of the autophagic machinery, such as ATG16L1, which have both canonical and unconventional roles.

Our research focuses on inborn errors of metabolism (IEM), a major group of rare diseases affecting approximately 1 in every 800 newborns. Using a multi-omic approach along with functional genomics, we identify genetic defects associated with IEM. We have also been involved in developing small chemical drugs to rescue the activity of mutant proteins causing IEM. We have generated cellular models from patients and healthy hiPSC for preclinical evaluation of these therapies.

Protein synthesis, also known as translation, is a fundamental process for life and an integral component of the Central Dogma of Molecular biology. It is also the most energetically demanding biosynthetic process in the cell. Consequently, the precision and synchronization of translation with both internal and external cues are imperative for cellular function. However, despite its significance, our understanding of how specific mRNA molecules are selectively translated and regulated remains limited.