Abstract
Human genetics analyzes the contribution of genes to the 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 for which mutations in a single gene are the primary cause - diseases that are individually rare, but whose cumulative impact is major in terms of physical, sensory and mental handicaps, and premature mortality.
