Medical Genetics (2020/2021)

Course code
4S004560
Credits
6
Coordinator
Cristina Bombieri
Teaching is organised as follows:
Unit Credits Academic sector Period Academic staff
FUNDAMENTALS OF MEDICAL GENETICS 3 MED/03-MEDICAL GENETICS II semestre Cristina Bombieri
Giovanni Malerba
HUMAN GENETICS 3 BIO/13-EXPERIMENTAL BIOLOGY II semestre Cristina Bombieri

Learning outcomes

The course aims at providig competences of human medical and molecular genetics and of advanced technologies and methods used to study and analyse genetic diseases, with emphasis given to the role played by genetic factors, defined at different resolution levels, from chromosome to single nucleotide, in Mendelian diseases, complex traits and cancer development and in the individual drug response, as well as at helping students develop thier ability to critically assess genetic information and apply it to theoretical, experimental and professional contexts. Upon succesful completion of the course, the students will gain broad knowledge and skills to - understand principles and mechanisms responsible for the occurrence of the different kind of genetic diseases and of the individual variation to pharmacological treatment and of precision medicine, - understanding of genetic data analysis in single individuals, families or populations and to interpret results - critically assess genetic information and apply it to theoretical, experimental and professional contexts, - choose the most appropriate tools and techniques for genetic analysis and critically evaluate the results, - communicate effectively with all the parties involved in the use or development of bioinformatics tools applied to molecular diagnosis and scientific research in the medical genetic field, - carry out autonomously further studies within the bioinformatics tools for genetic analysis.