Our Research
Our research aims at unveiling novel aspects of biological processes while positively impacting the lives of people affected by rare diseases.By studying them, 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.
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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 functionally validate the pathogenetic relevance of patient mutations. They also make it possible to develop appropriate biological models for further studying the mechanisms underlying the genetic cause.
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.
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.
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.
Zebrafish as a model
There is no need to present this animal model whose use in biomedical research is widespread.
Its incredible accessibility at the earliest stage of embryogenesis, its transparent and rapid development and its ease of use make it a model of choice for functional genomics studies.
Our laboratory takes advantage of the advantages of this biological model and combines them with others, in vitro and in vivo, with the aim of unveiling new aspects of the biology of rare diseases
Our Main Ongoing Projects
They support our research endeavours,
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