ID:
500455
Duration (hours):
25
CFU:
2
SSD:
GENETICA MEDICA
Year:
2025
Overview
Date/time interval
Primo Semestre (01/10/2025 - 16/01/2026)
Syllabus
Course Objectives
The educational objectives of the course are: to make the student able to know the basic mechanisms of modes of inheritance and human diseases; to assess whether a disease has a genetically determined background; to have a broad view of Mendelian genetic diseases but also of complex diseases with multifactorial etiology, in the context of the complete familial pedigree. As learning outcomes, we expect to train a future clinician who has the ability to apply the basic elements of medical genetics in his or her clinical practice, in the modern context of precision medicine.
Course Prerequisites
Basic concepts of general biology, with special reference to the structure of the eukaryotic cell, DNA, RNA and proteins. Concepts of DNA replication, DNA transcription and mRNA translation (protein synthesis).
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 illustrated by practical examples that demonstrate to students how the topic under discussion may have a practical application in their future in their professional activity. Teacher / students interaction will be stimulated as much as possible. During the lessons the student will learn the utility of several bionformatic tools useful in clinical genetics. Furthermore, scientific papers will be provided for in-depth analysis of the main topics of the course.
Assessment Methods
The exam can only be taken by those who have attended at least 75% of the class hours. 45-minute written exam consisting of 31 multiple-choice questions (4 answer choices, one correct; no penalty for incorrect answers; one point for each correct answer). Grading scale 0-31 (30 with honors). The outcome of the exam will be posted on Esse3 (where acceptance/rejection can be done by the student). by the student). Regarding registration, students should register directly in their personal area. Only one final grade, which represents the weighted arithmetic average between the grades obtained in all the exams of the integrated module, will be reported in the student's record.
Texts
New Clinical Genetics, fourth edition: A guide to genomic medicine A. Read and D. Donnai (Scion Pulishing Ltd)
Contents
Basic genetic nomenclature; concepts of mutation, variant and polymorphism; pedigree design; inheritance of monogenic traits, Mendel's laws; autosomal dominant, autosomal recessive, X-linked transmission; concepts of penetrance, expression, anticipation, fitness, mosaicism, phenocopy, imprinting, de novo mutations; dynamic mutations; genetic and allelic heterogeneity; oligogenic inheritance; mitochondrial DNA and inheritance; karyotype and chromosomal classification; numerical and structural chromosomal aberrations; multifactorial inheritance, quantitative traits, threshold effect; interpretation of family trees.
Course Language
English
More information
Office hours: by appointment. Please email: enzamaria.valente@unipv.it
Degrees
Degrees
MEDICINE AND SURGERY
Single-cycle Master’s Degree (6 Years)
6 years
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People
People
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