SME0594 - HUMAN GENETICS

The course in Human Genetics aims to provide first-year medical students with the fundamental knowledge of the biological mechanisms underlying heredity and genetic variation in humans. Through an introduction to the principles of molecular and classical genetics, the course is designed to help students understand how genetic information is organized within the human genome, how it is transmitted across generations, and how it may contribute to the development of pathological conditions.
During the course, the main molecular processes that regulate gene function will be presented, including DNA replication, transcription, and translation, as well as the basic mechanisms involved in the regulation of gene expression. Particular attention will be devoted to the principles of human inheritance, the interpretation of pedigrees, and the different patterns of transmission of genetic diseases. The course will also introduce the major types of genetic mutations and chromosomal abnormalities, highlighting their role in the origin of genetic disorders.
Another goal of the course is to provide students with an initial overview of the applications of genetics in medical practice, including the basic principles of genetic diagnosis, screening, and genetic counseling. By the end of the course, students should be able to understand the fundamental concepts of human genetics and apply them to the interpretation of simple genetic problems and basic clinical cases, thereby establishing the foundations for further study in the field of medical genetics.