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A Collège de France - CNED coproduction

Abstract

Human genetics analyzes the contribution of genes to fundamental questions " Where do we come from ? What are we ? Where are we going ?  It is also a medical discipline that aims to help prevent or treat diseases whose causes lie at least partly in individual variations in the gene sequence, particularly those where mutations in a single gene are the primary cause. These diseases are individually rare, but have a major cumulative impact in terms of physical, sensory and mental handicaps, and premature mortality.