509946 - THE ROOTS OF DISEASE I

courses

ID:

509946

Duration (hours):

56

CFU:

SSD:

GENETICA MEDICA

Year:

2025

Date/time interval

Secondo Semestre (02/03/2026 - 12/06/2026)

Course Objectives

The overall objective of the course is to make the student able to: recognize the pathogenic mechanisms associated with human genetic diseases; have a broad vision of Mendelian and complex diseases; make genotype-phenotype correlations. As learning outcomes, we expect to train a future biotechnologist able to effectively apply the basic elements of human/medical genetics in both diagnostic and esearch settings. Laboratory activity will allow students to put into practice the theoretical notions acquired during the lectures of the course, but above all it provide the opportunity to directly "touch" the activity carried out by a modern biotechnologist in the diagnostic/research context.

Course Prerequisites

Good knowledge in the field of general and molecular biology and human genetics: mitosis and meiosis; structure and function of DNA and RNA; protein synthesis; genes and chromosomes; structure and function of genes; structure, function and organization of chromosomes; Mendel's laws of Inheritance; patterns of inheritance (dominant/recessive/x-linked); genetic mutations and pathogenetic mechanisms associated with diseases (GoF, LoF, dominant-negative).

Teaching Methods

Frontal lessons. The teaching material will be made available to the students; the lessons will be organized in such a way that all the topics are supported by practical examples, demonstrating how the topic under discussion may have a practical application in their future professional activity. Teacher-students interaction will be stimulated as much as possible. Laboratory. Hands-on sessions in which students will be directly engaged in a molecular laboratory context.

Assessment Methods

Attendance of lectures is strongly recommended. Lectures (3CFU). The exam can only be taken by those who have passed the laboratory module. Written exam lasting 30 minutes consisting of 20 multiple choice questions (5 answer options, only one correct; no penalty for incorrect answers; 1.6 points each correct answer). Evaluation scale 0-31 (30 with honors) The student will have to demonstrate not only the knowledge of the topics covered, but also the ability to link them. The result of the exam will be published on Esse3 (where the acceptance/refusal can be done by the student). Laboratory (2 CFU). Attendance of lab activities: it is mandatory to attend at least the 75% of the lab hours. Evaluation scale: pass/fail grading. Students who do not pass the laboratory module will have to take a supplementary exam (e.g. written report on lab activities).

Texts

Strachan and A. Read, Human Molecular Genetics, 2018, Garland Science, ISBN 9780815345893 A. Read and D. Donnai, New Clinical Genetics 4, 2020, Scion, ISBN 9781911510703

The program will cover different topics in the field of human and medical genetics: pathogenetic mechanisms in human genetic diseases; interpretation of genealogical trees; imprinting disorders and epigenetics; cryptical structurals variants; mitochondrial disorders; incomplete penetrance; mosaicism and reversion phenomena; non-coding DNA; cancer genomics; spliceopathies. Laboratory. Students will be personally involved in achieving a molecular diagnosis in real clinical cases by applying the main molecular techniques used in a medical genetics laboratory, such as: DNA extraction, amplification by PCR, electrophoresis on agarose gel and subsequent Sanger sequencing.