Samarut, Eric

In September 2020, I was recruited as a researcher at the Research Center of the University of Montreal Hospital Center (CRCHUM) and as an assistant professor at the University of Montreal (faculty of Medicine, department of Neurosciences). As an independent investigator, my research aims to unveil novel aspects of biological processes while positively impacting the lives of people affected by rare diseases. By studying these disorderly contexts under the prism of functional genomics, we elucidate new aspects underlying their biology, particularly regarding gene function in vivo. These studies thus improve our fundamental scientific knowledge at molecular, cellular, tissue and physiological levels. Rare genetic diseases constitute an urgent, unmet medical need. The lack of study on these diseases places patients in an impasse on multiple scales: a diagnostic impasse by not knowing the cause of their disorder and a therapeutic impasse by facing an often-incurable illness. Functional genomics studies, like those we are developing in our laboratory, can help meet these needs at different levels, from studying the genetic causes of pathology to developing therapeutic strategies. Our research program tackles multiple of these needs: (1) In collaboration with international clinicians and geneticists, we study the pathogenicity of rare genetic variants in relevant biological models. This work makes it possible to validate the pathogenicity of patient mutations functionally. They also make it possible to develop appropriate biological models for further studying the mechanisms underlying the genetic cause; (2) Investigating disease biology is critical in understanding a disease's molecular and cellular substratum. In addition, these studies make it possible to highlight molecular or signalling targets that can constitute actionable levers for developing therapeutic strategies. In particular, we study the non-canonical functions of genes involved in human pathologies, which can help open up new preclinical development avenues; (3) Our functional genomics work can help validate the involvement of a specific molecular target in a pathological process. In addition, this work helps to understand how pharmacological or genetic modulation of the activity and function of these targets can modulate a particular phenotype in vivo; (4) Translational biological models, which replicate the genetic background of a patient or a patient population, can make it possible to test the response to different treatments. We are working on translational, in vivo approaches to develop such models in the context of rare genetic diseases.