Mastering the use of fundamental genetic terms and the concepts associated with them, with particular regard to the genome, the variations caused by the various genetic diseases. Recognize the different models of Mendelian inheritance through the study of family trees and the characteristics of the non-Mendelian forms examined. Correctly identify the different levels of investigation of the genetic, molecular or chromosomal material and the potential of the associated tests. Understand and know the indications for the examination of chorionic villi or amniocytes in invasive prenatal diagnosis and the applications of prenatal screening. Mastering genetic tests and laboratory protocols applied in prenatal diagnostics (non-invasive and invasive)
Course Prerequisites
Good knowledge of Biology and Genetics in their basic contents, in particular regarding the chemical and physical nature of the genetic material and its expression. The development of the program foresees a constant reminder.
Teaching Methods
Lectures
Assessment Methods
LEARNING ASSESSMENT METHOD: Written exam with 17 multiple-choice questions and one open-ended questions (specifically related to the two course modules) requiring complete but concise answers. The questions will also address the interpretation of family trees. Only correct answers will count toward the final score; incorrect answers will NOT deduct points.
Texts
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Contents
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 and an in-depth look at monogenic diseases Mendelian inheritance disorders: Mendel's contribution, his studies, and the results obtained Family trees as a way to study the transmission of human traits Inheritance models: from family tree analysis to genotype assignment to calculating recurrence risk Examples of diseases transmitted according to autosomal and sex-linked, dominant, and recessive patterns. Non-Mendelian Monogenic Inheritance: Mitochondrial Inheritance, Dynamic Mutation Diseases Chromosomes: Structure, Overview of the Main Chromosomal Abnormalities Causing Specific Syndromes, Indications for Chromosome Analysis Karyotype and Karyotyping, Banding Techniques Conventional and High-Resolution Cytogenetics Molecular Cytogenetics: Characteristics and Potential of FISH and Array-CGH
