Module Details

Medical Genetics

MS0038

Course
Medical Genetics
Code
MS0038
Academic Year
2024/2025
Curriculum Year
2024/2025
Degree Programme
PHYSIOTHERAPY
Curriculum
000 - CORSO GENERICO
Course coordinator
Lecturers
Credits
2
Lecture Hours
20
Scientific Disciplinary Sector (SSD)
MED/03 - Medical Genetics
Course Type
Single-subject learning activity
Course Delivery
OBB - Obbligatoria
Year
1
Teaching period
Primo Semestre
Campus
NOVARA
Teaching language
Italian
Course Contents
The aim of the course is to provide the student with the instruments to understand the molecular basis of the human genetic diseases and to prepare the students for the genetic counselling to the family
Reference Texts
Chieffi. Biologia e Genetica. EDISES
Iolascon, Gasparini, Cocozza : Genetica Medica. Lineamenti. ed Idelson-Gnocchi,2005
Learning Outcomes
The aim of the course is to provide the student with the instruments to understand the molecular basis of the human genetic diseases and to prepare the students for the genetic counselling to the family
Prerequisites
A basic knowledge of cell biology and flow of genetic information is expected
Teaching Methods
Frontal lessons
Additional Information
Students with physical disabilities, Learning Disabilities or Special Education Needs can request specific services and tools via the Staff Sviluppo e Coordinamento Carriere e Servizi alle Studentesse e agli Studenti, consulting the University webpage: https://www.uniupo.it/en/services/services- students-physical-or-learning-disabilities Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects.
Assessment Methods
Written test.
The test includes about 25 multiple choice questions on the entire programm and one open question on family trees..
The overall evaluation will be achieved considering all the evaluation on the single question
Detailed Syllabus
--the human genome
-chromosome structure
-Cell reproduction: mitosis and meiosis.
Numerical and structural variations of the karyotype (polyploidy, aneuploidy, translocations, deletions and duplications).

The Mendelian laws and its applications.
Human Mendelian genetics: interpretation of genealogical t- rees, monogenic diseases and blood group genetics.

Sex chromosomes and sex determination.
Recombination.

Study of quantitative and multifactorial characters and complex diseases.
Expected Learning Outcomes
Students are expected to learn the basics about the structure and organization of the human genetic material and the laws that regulates its transmission in the families.
In particular, students are expected to achieve the skill for the genetic counselling for human genetic disease identifying the appropriate genetic tests and the inheritance risks
Moreover, students are expected to be able to apply the knowledge on the different genetic topics to design experiments and to critically discuss the results.
Finally, students are expected to learn skills to communicate the genetic topics
Last update:09-09-2026 00:14:31