Abstract
This lecture will be devoted to the presentation of discoveries concerning the genetic causes of monogenic diseases, with emphasis on mutations responsible for serious pathologies. It will recall Mendelian principles of trait transmission, with examples such as achondroplasia, or skeletal dysplasia associated with short stature. We'll explore the latest methods, such as whole genome sequencing, for locating the genes responsible, and discuss the interplay between rare and frequent mutations in disease development. Finally, we will discuss the contribution of systems approaches, such as transcriptome sequencing and proteomics, to clinical genetics.
