First cycle
degree courses
Second cycle
degree courses
Single cycle
degree courses
School of Science
Course unit
SCP3056624, A.A. 2018/19

Information concerning the students who enrolled in A.Y. 2016/17

Information on the course unit
Degree course First cycle degree in
IF1839, Degree course structure A.Y. 2011/12, A.Y. 2018/19
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Number of ECTS credits allocated 7.0
Type of assessment Mark
Website of the academic structure
Department of reference Department of Biology
Mandatory attendance
Language of instruction Italian
Single Course unit The Course unit can be attended under the option Single Course unit attendance
Optional Course unit The Course unit can be chosen as Optional Course unit

Teacher in charge PAOLA BRAGHETTA BIO/13
Other lecturers DIANA CORALLO

ECTS: details
Type Scientific-Disciplinary Sector Credits allocated
Educational activities in elective or integrative disciplines BIO/13 Applied Biology 4.0
Educational activities in elective or integrative disciplines MED/03 Medical Genetics 3.0

Course unit organization
Period First semester
Year 3rd Year
Teaching method frontal

Type of hours Credits Teaching
Hours of
Individual study
Laboratory 1.0 16 9.0 No turn
Lecture 6.0 48 102.0 No turn

Start of activities 01/10/2018
End of activities 18/01/2019
Show course schedule 2019/20 Reg.2011 course timetable

Examination board
Board From To Members of the board
7 GENETICA MOLECOLARE E GENOMICA FUNZIONALE 2019-2020 01/10/2019 27/11/2020 BRAGHETTA PAOLA (Presidente)
TREVISSON EVA (Membro Effettivo)
6 GENETICA MOLECOLARE E GENOMICA FUNZIONALE 2018-2019 01/10/2018 30/11/2019 BRAGHETTA PAOLA (Presidente)
TREVISSON EVA (Membro Effettivo)
5 GENETICA MOLECOLARE E GENOMICA FUNZIONALE 2017/2018 01/10/2017 25/11/2018 BONALDO PAOLO (Presidente)
CORALLO DIANA (Membro Effettivo)

Prerequisites: Genetics, Cell biology, Molecular biology.
Target skills and knowledge: MOLECULAR GENETICS
The aim of the course is to provide the basic knowledge concerning the molecular bases of genetic disorders and the principal diagnostic techniques used for their diagnosis. Introductory frontal lessons will be followed by experimental seminars with practical examples about the analysis and the interpretation of genetic tests, functional studies for mutation validation and application of novel molecular techniques for the diagnosis of human genetic disorders.

Functional genomics is of key relevance in the so-called post-genomic era. Instead of providing a general overview of the different fields of studies and applications of functional genomics, this course is aimed at providing a detailed theoretical and experimental insight into one of the most relevant and advanced field in biotechnology: transgenic mice as a model for the functional dissection of genes in physiological and pathological conditions.
The course is organized into two distinct and complementary sections. The first part of the course will be devoted to the description of principles and applications of mouse transgenesis in biomedicine. Several topics will be discussed in detail, including embryonic stem cells for research and therapy, targeted gene inactivation, large scale mutagenesis in mice through gene trapping, RNA interference, genome editing. In the second part of the course, the different technologies for the production of transgenic mice will be analyzed in detail, also making use of movies and animations, and finally some specific examples of transgenic mice as models for distinct human diseases will be thoroughly discussed,
Examination methods: written test
Assessment criteria: The evaluation will take into account the acquired knowledge, the quality of presentation, the terminology and the integration capabilities of the student in discussing the topics explained during the course.
Course unit contents: MOLECULAR GENETICS
General aspects
Mendelian disorders
Techniques employed for mutation detection
Non Mendelian disorders
Cytogenetics and chromosomal anomalies
- Multifactorial disorders, pharmacogenomics
- Inherited predisposition to tumor development
- Prenatal diagnosis
- Experimental seminars: Sequence analyses. Novel diagnostic techniques: next generation sequencing: application in human molecular genetics. Methods for the validation of mutations: in silico analyses, homologous and heterologous expression systems, hybrid minigenes. Model organisms (yeast) for the functional characterization of mutations. Molecular techniques for the study of genomic rearrangements. Set up of molecular analyses. Estimate of genetic risk

- General aspects
- Transgenesis in mice: principles and applications
- Mouse ES cells
- “Gene targeting”: targeted gene inactivation for the in vivo study of gene function
- “Gene trapping”: large scale random mutagenesis for the in vivo study of gene function
- “Genome editing” and the new scenario for genomic engineering
- In vivo RNA interference
- The different technologies for generating transgenic mice
- Experimental lectures: some applications of knockout mice as a model of human inherited disorders: i) Collagen VI null mice, a model of muscular dystrophies; ii). Emilin1 null mice, a model of hypertension.
Planned learning activities and teaching methods: - Class lessons and lectures
- Interactive experimental seminars and discussion groups.
- Practical exercises (also in lab) concerning sequence analysis, use of bioinformatics tools, cytogenetic-molecular analysis.
Additional notes about suggested reading: Teaching material and scientific papers and reviews, provided during the lessons.
Textbooks (and optional supplementary readings)

Innovative teaching methods: Teaching and learning strategies
  • Lecturing
  • Laboratory
  • Working in group

Innovative teaching methods: Software or applications used
  • Moodle (files, quizzes, workshops, ...)

Sustainable Development Goals (SDGs)
Good Health and Well-Being