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Résumé :

A discovery of novel ultra-rare genetic variants of a given gene in patients is an exciting opportunity to better understand the disease and potentially to find appropriate therapy. Often the path is straightforward and the functional consequences of the variants could help explainimg the pathophysiology. Other cases are particularly challenging with traps to fall in at every step of the discovery process. I will illustrate the process of discovery and its methodological and conceptual challenges using the example of variants of the genes of the innate immune complement system and their role for the pathophysiology of severe kidney disease. ​

https://www.cea.fr/drf/irig/Pages/Animation-scientifique/seminaires/2023_Roumenina.aspx

Contact : odile.rossignol@cea.fr