Congratulations to David Pietri on the acceptance of his thesis!

At IGBMC, David Pietri worked on Amyotrophic Lateral Sclerosis (ALS), or Charcot’s disease. Mainly caused by an abnormal expansion of GGGGCC repeats in the C9ORF72 gene, this is the third most common neurodegenerative disease. The protein produced by the mutated gene then forms a complex with two others: SMCR8 and WDR41, two proteins of unknown function.

To better understand the molecular functions of this complex and to solve its structure was the main goal of the PhD student’s project. This allowed for the discovery of the involvement of C9ORF72 in the regulation of a recently described mechanism of biogenesis of newly-formed lysosomes: the Autophagic Lysosome Reformation. Revealing a new partner for the C9ORF72 complex as well as a novel function, David Pietri explained the dysfunction of lysosomes that could explained the neurodegeneration observed in Charcot’s disease, which could open new therapeutic leads.

Want to know more about David Pietri’s work ? Here you can access his thesis : https://theses.fr/s269943

During his time with us, the young researcher was able to develop crucial skills in molecular and cellular biology as well as in data analysis.

David Pietri’s thesis was made possible through the support of our health and biology platforms (Proteomics, Flux cytometry, cell culture…). The PhD student also collaborated with Patrick Schultz’s team for the cryo-EM structure determination of the C9ORF72-SMCR8-WDR41 complex.

Thanks to the Association pour la recherche sur la Sclérose Latérale Amyotrophique for their support!

David Pietri’s will soon begin a post-doctoral contrat at the Fraunhofer Center for Manufacturing innovation in Boston. He will join the Christine McBeth’s team to work on the development of biomedical instruments and devices.