Genetics and Molecular Biology

General skills The course deals with the study of inheritance as it occurs in human beings. The main goal of the course is to provide students with an in-depth knowledge of human genomic structure and function, and causes and consequences of “normal” and pathological diversity at the DNA level. The course includes classroom lessons during which the knowledge about the genomic structure and variability will be applied to the resolution of typical genetic counseling cases. During the course students will learn to use databases and browsers related to human genetics. The course requires knowledge of Mendelian genetics and population genetics, and basic knowledge of statistics and probability theory. Specific skills A) Knowledge and understanding - Deep knowledge of human genome structure and function - Knowledge of the human genetic diversity, how it originates and how it impacts on phenotypic expression and genome evolution - Knowledge and understanding of different inheritance pattern - Knowledge and understanding of the genetic basis of the most important hereditary disease - Knowledge and understanding of the peculiarities of the methods used in human genetic mapping B) Ability to apply knowledge and understanding - Be able to use specific terminology - Be able to interpret pedigrees in genetic counseling cases - Be able to give a statistical weight to observations - Be able to find and select the correct tools (e.g. variant databases, genome browsers etc) for deepening knowledge C) Making judgements Through the in-depth analysis of many cases, the student will acquire critical judgement skills D) Communication skills - During the lessons, students will be encouraged to communicate and interact with the teacher and other students on forensic topics E) Learning ability - Learning the specific terminology - Be able to make the logical connections between the topics covered - Be able to identify the most relevant topics and to pursue independently the study of advanced topics in human genetics