Acquire mastery in the use of fundamental genetic terms and concepts associated with them; know the role of Medical Genetics in its application to clinical practice; know the classification of genetic diseases, with special reference to monogenic diseases. The objective of these will be the in-depth study of Mendelian forms (family trees, reconstruction of crosses based on genotypes, prediction of the risk of recurrence).
Course Prerequisites
Good knowledge of Biology and basic Genetics, in particular regarding the chemical and physical nature of genetic material, its expression and the variations it may present.
Teaching Methods
Lectures using Power Point presentations, made available to students in the section dedicated to teaching on the KIRO platform.
Assessment Methods
ASSESSMENT METHOD: Written exam with 30 multiple-choice quizzes, including questions related to the interpretation of family trees. Each quiz has four possible answers, with only one correct answer. A precise indication will be given if two correct answers are given. Only correct answers will count towards the final grade; points will NOT be deducted for incorrect answers (kirotesting).
Texts
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Contents
EXAM PROGRAM
Introduction to the course: Medical Genetics, its subject matter, objectives, and applications Genetic vocabulary and key aspects of cell divisions related to chromosome segregation Classification of genetic diseases In-depth study of monogenic diseases Mendelian inheritance disorders: Mendel's contribution, his studies, and the results obtained Pedigrees as a way to study the transmission of human traits Inheritance models: from pedigree analysis to genotype assignment to calculation of recurrence risk Examples of diseases transmitted according to autosomal and sex-linked, dominant, and recessive patterns.
