MEDICAL GENETICS
Stampa
Enrollment year
2020/2021
Academic year
2020/2021
Regulations
DM270
Academic discipline
MED/03 (MEDICAL GENETICS)
Department
DEPARTMENT OF BRAIN AND BEHAVIORAL SCIENCES
Course
NEUROPHYSIOPATHOLOGY TECHNIQUES
Curriculum
PERCORSO COMUNE
Year of study
Period
(01/10/2020 - 22/01/2021)
ECTS
1
Lesson hours
8 lesson hours
Language
Italian
Activity type
WRITTEN TEST
Teacher
Prerequisites
Good knowledge of Biology and Genetics, particularly to the physical and chemical aspects of the genome, its expression and about the variations it may present.
Learning outcomes
To know the role of Medical Genetics in its application to clinical practice, to know Mendel's laws and their meaning, to know the mode of transmission of Mendelian characters / pathologies in humans, to know how to design the crosses starting on the genotypes and to predict the risk of recurrence, knowing how to recognize the mode of transmission of pathologies in families through family trees.
Course contents
 Introduction to Medical Genetics
 Terminology of Genetics
 Character transmission: Mendel's 1st and 2nd law (main aspects)
 Genetic diseases and their classification
 Mendelian inheritance in humans: family trees as a method for studying the transmission of characters, and factors conditionning their passage through the generations
 Inheritance autosomal recessive, autosomal dominant, recessive associated with the X chromosome, dominant associated with the X chromosome: characteristics observable in family trees, assignment of genotypes in affected and unaffected persons, calculation of the recurrence risk.
Teaching methods
Lectures
Reccomended or required readings
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Assessment methods
Written exam with multiple choice quiz; problems relating to the interpretation of family trees
Further information
Sustainable development goals - Agenda 2030