MEDICAL GENETICS
Stampa
Enrollment year
2021/2022
Academic year
2021/2022
Regulations
DM270
Academic discipline
MED/03 (MEDICAL GENETICS)
Department
DEPARTMENT OF MOLECULAR MEDICINE
Course
BIOMEDICAL LABORATORY TECHNIQUES
Curriculum
PERCORSO COMUNE
Year of study
Period
(04/10/2021 - 21/01/2022)
ECTS
2
Lesson hours
16 lesson hours
Language
Italian
Activity type
WRITTEN TEST
Teacher
MINELLI ANTONELLA (titolare) - 2 ECTS
Prerequisites
Good knowledge of Biology and Genetics in their basic contents, regarding the chemical and physical nature of the genetic material and its expression. The course program provides for a constant reminder of its.
Learning outcomes
To know well the use of fundamental genetic terms and the concepts associated with them. To know the role of Medical Genetics in its application to clinical practice. To know the classification of genetic diseases, their main aspects also in relation to genetic tests. Understand how Mendelian traits are transmitted through family trees, and, based on assigned genotypes, predict their recurrence risk. Tok know the structure of the human genome and its variations it and the possible links with phenotypes.
Course contents
Introduction to the course: the vocabulary of genetics. Genes, genomes and genetic variability. Genetic diseases and their classification. Methods of studying the transmission of Mendelian traits: genealogical trees Examples of monogenic diseases. Inheritance models: from the analysis of family trees to the assignment of genotypes to the calculation of the recurrence risk. Architecture of the human genome. Human genetic variations. Molecular basis of diseases.
Teaching methods
Lectures
Reccomended or required readings
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Assessment methods
Written/oral exam
Further information
Sustainable development goals - Agenda 2030