Methods in Genetics and Human Genomics

A.Y. 2024/2025
6
Max ECTS
48
Overall hours
SSD
BIO/18
Language
Italian
Learning objectives
The course aims to provide the educational and methodological bases that allow to understand the normal and pathological genetic variability in humans. Another aim of the course is to provide basic knowledge of the structure of the human genome and the molecular mechanisms underlying the processes that regulate gene expression.
Expected learning outcomes
At the end of the course, the student will have acquired:
- the most recent methods of cytogenetics and analysis of the structure of the human genome;
- the theoretical and conceptual bases of human genetics and of genetic diseases
- the main molecular mechanisms related to the control of gene expression
Single course

This course can be attended as a single course.

Course syllabus and organization

Single session

Responsible
Lesson period
Second semester
Course syllabus
- Cytogenetics. Fish assay
- Hybridization methods, Southern/Northern.
- Microarrays.
- GWAS.
- Applications of PCR
- Mathods based on amplification
- Forensic Genetics
- NGS methods
- Structure of the human genome
- Function of the human genome
- Methods of genetic engineering
- Genome Editing
- RNA interference.
- Epigenetics
- Imprinting
- Cell reprogramming
- Monogenic Diseases
- Principles of cancer genetics
Prerequisites for admission
Basic knowledge of statistics, principles of biophysiscs, molecular and cellular biology, genetics and biochemistry
Teaching methods
Lessons are in presence. Slides will be provided through the Teams room "Metodologie di Genetica e Genomica Umana".
Teaching Resources
- "Human molecular Genetics" T. Strachan, A. Read.
- "Human molecular genetics" J.J.Pasternak Zanichelli
Assessment methods and Criteria
Exam will be written with open questions.
BIO/18 - GENETICS - University credits: 6
Lessons: 48 hours