The course aims to give students an overview of genetic diseases, starting from their classification based on different types of genomic defects. At the end of the course, the following are considered relevant objectives: precise knowledge of the vocabulary of Genetics and its concrete application in genetic diseases; understanding the aspects characterizing the genetic diseases treated as an in-depth study, with particular attention to the clinical and molecular ones.
Course Prerequisites
Fundamentals of Biology and Genetics, if acquired during previous studies. The basics of Applied Biology constitute a starting point for understanding the topics proposed in the course. A brief reminder of them will complete these topics.
Teaching Methods
Lectures using Power Point presentations, made available to students in the teaching section on the KIRO platform.
Assessment Methods
Written exam consisting of 30 multiple-choice questions; each correct answer will be worth 1 point, and each incorrect answer will be worth 0 points. The materials used for the lessons are available on the Kiro-unipv platform, useful for completing exam preparation along with the recommended textbook.
Texts
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Contents
1- Introduction to the Genetics: the vocabulary of Genetics, the main macromolecules and the fundamentals of cells and chromosomes 2- Human chromosomes and cytogenetics, indications for karyotype analysis 3- Classification of genetic diseases 4- Chromosomal diseases: chromosomal abnormalities, aneuploidies and their cause, autosomal trisomies, chromosome structure abnormalities and phenotypic effect 5-Monogenic diseases: molecular causes and phenotypic effect; Mendelian inheritance and the basic terms: locus, allele, phenotype, genotype, dominant and recessive 6- Genetic tests
