Research of pathogenic mutations in the human genome through the study of consanguineous families

In this thesis I present my work towards the better understanding of recessive disorders in consanguineous families and the discovery of new genes responsible for autosomal recessive disorders. The introduction provides the background that made these studies possible and describes the progress that happened the last 15 years in our understanding of the human genome and the technological and analytical technologies and tools that have been developed that enabled the scientific community to devise new strategies for the identification of novel recessive genes. At the second part a selection of 6 papers is provided from my work in: i) the demonstration of the capacity of our method to identify pathogenic mutations and the further understanding of the burden these diseases represent for the populations that practice consanguinity, ii) the development of new bioinformatics tools necessary for the analysis of these families in order to take full advantage of the newest technologies and iii) specific examples of genes where we have identified a new gene for intellectual disability, identified a gene responsible for thrombocytopenia similar to a model organism and finally the identification of a novel phenotype of a gene, most probably due to a different pathogenetic mechanism. The last section provides some perspectives about the future of the research in the domain both from the aspect of genomics and consanguinity