Published on 10.02.2021
Research Acceleration
- Portrait
Obtaining a position as a research fellow at Inserm after a drastic selection and a very strong competition, is a new milestone in Marianna's career and research.
It is essential to be well prepared for this competition, both scientifically and mentally. I really want to tell the young researchers not to be discouraged, and that the fact that they are not laureates of the competition does not mean that their career and their research are not important and of high quality. You have to keep hanging on
This young Italian, after completing two post-doctoral fellowships on the innate immune response during sepsis and on inflammatory bowel diseases, joined the gut immunity laboratory at Imagine six years ago. She dedicates her research to the intestine, a key player in our immunity. Her project: to identify and characterize the genetic causes of inflammatory bowel diseases in order to improve diagnosis and management.
The team, led by Nadine Cerf-Bensussan at Imagine, seeks to elucidate the molecular mechanisms that prevent the intestinal barrier from functioning, particularly in inflammatory bowel diseases, including Crohn's disease and ulcerative colitis. They occur in about 1 in 1,000 individuals in Western countries, most often in young adults, and are generally the result of a complex interaction of genetic and environmental factors, pathological interactions between the microbiota and the immune system in genetically susceptible individuals.
Some rare but very severe cases of chronic inflammatory bowel disease may be the result of the alteration of a single gene essential to the proper functioning of the intestinal immune barrier or its regulation. These monogenic diseases most often begin in the first months or years of life. It is to these monogenic forms that Marianna dedicates herself to.
We are seeking to identify possible molecular causes for these monogenic disorders of the intestine. The rare genetic abnormalities identified almost all concern genes that are indispensable either for the regulation of the epithelial barrier, or for immune regulation, or both. We have thus identified several genes that were not yet associated with monogenic diseases. The identification of mutations in these genes has made it possible to propose targeted therapeutic strategies for these patients
"The project, which we started several years ago, focuses particularly on congenital diarrhea, whose causes could be found in epithelial cells. Using a cohort of children with diarrhea very early in development, we are modeling the genetic defect involved using the Crispr-Cas9 genetic scissor technique. Our objective is to establish a preclinical model to identify suitable therapeutic strategies for these pathologies, for which patients often have to remain on parenteral nutrition or wait for an intestinal transplant that will only be a partial response to their disease," concludes Marianna.