Learning outcomes of the course unit
Students must know basic principles of mendelian inheritance in man as well as of complex traits. Students must also know basic mutational events, both at gene and chromosomal level, and their phenotypic consequences. They have to know main molecular procedures for genetic testing in clinical settings and the importance of genetic counselling.
Student must have basic knowledge in biology and human genetics.
Course contents summary
Topics include review of basic human genetics, elementary probability, pedigree and segregation analysis, cytogenetics, empirical risks, and counseling practice with examples of common disorders, Mendelian genetics, conventional as well as recent developments and discoveries, principles of dysmorphology, biochemical and molecular genetics (genetic testing), teratogenesis and cancer genetics, prenatal diagnosis, genetic couselling, genetics screening, and ethical legal issues. Principles of gene therapy.
Dallapiccola B, Novelli G. Genetica medica essenziale. Minotauro Ed.2006