Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society

Abstract

Differences of Sex Development (DSD) represent a set of congenital diseases in which the development of chromosomal, gonadal, or anatomical sex is atypical. Current knowledge allows molecular diagnosis in only about 50% of patients. New mechanisms of gene regulation are emerging in novel causes of DSD and explaining different phenotypes caused by the same gene mutation. The identification of the molecular causes of DSDs increases the knowledge of gonadal determination mechanisms. In this project, we will use new resources to address the human genome in order to (1) identify new candidate genes as the cause of 46, XY DDS and 46, XX DDS by sequencing the entire exome; (2) to investigate the role of epigenetic mechanisms (methylation and miRNA) in the etiology and phenotype modulation of patients with DSD 46, XX and 46, XY. (AU)