Biologia molecolare e genetica

The goal of the course is to describe the genetic mechanisms underlying the transmission of Mendelian characters to identify the inheritance of diseases in humans evaluating the reproductive risk through the study of family trees. The course is also aimed at providing the future medical doctor with the tools to understand the molecular mechanisms at the basis of the main genetic disorders involving genes, and chromosomes, and the use of novel diagnostic tests.
These skills will allow the patient to be directed to more specific diagnostic and clinical investigations, to assess the inheritance risk of pathological trait, and / or identify the liability to a specific disorder, reducing environmental risk through appropriate lifestyles

At the end of the course the student should be able to draw a family tree, distinguishing the different types of inheritance, indicate the possible genetic and environmental factors in multifactorial diseases, classify mutations involving genes and chromosomes, describe the most common genetic disorders, and be able to calculate the frequency of a disease gene in a population, evaluating the presence of healthy carriers. The student must also have understood, the main strategies used in cytogenetic-molecular diagnosis, applied in pre- and post-natal genetic counseling