Human Molecular Genetics

The main objective of the course is to provide advanced information on the genetic basis of human disease, to understand the impact of new knowledge on the genome in the study of human molecular genetics and to acquire knowledges on fundamentals of vertebrate developmental biology and the main signaling pathways that, if altered, lead to defects in tissue and organ formation

After completing the course, the student will have knowledges on specific issues related to the analysis of the human genome, the basics of the developmental biology and the molecular basis of genetic diseases . In particular, the student should know: the fundamentals of molecular pathology, the main steps of the embryo development, the signaling pathway involved in the development, the most commonly used techniques in molecular diagnosis of genetic diseases, and the main approaches for the genetic analysis of Mendelian and complex characters.