First cycle
degree courses
Second cycle
degree courses
Single cycle
degree courses
School of Medicine
Course unit
MEP7079218, A.A. 2019/20

Information concerning the students who enrolled in A.Y. 2019/20

Information on the course unit
Degree course Second cycle degree in
ME1934, Degree course structure A.Y. 2012/13, A.Y. 2019/20
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Degree course track MEDICAL BIOTECHNOLOGIES [002PD]
Number of ECTS credits allocated 6.0
Type of assessment Mark
Course unit English denomination GENETICS
Department of reference Department of Molecular Medicine
Mandatory attendance
Language of instruction English
Single Course unit The Course unit CANNOT be attended under the option Single Course unit attendance
Optional Course unit The Course unit is available ONLY for students enrolled in MEDICAL BIOTECHNOLOGIES

Teacher in charge ANTONELLA RUSSO BIO/18

ECTS: details
Type Scientific-Disciplinary Sector Credits allocated
Core courses BIO/18 Genetics 6.0

Course unit organization
Period Second semester
Year 1st Year
Teaching method frontal

Type of hours Credits Teaching
Hours of
Individual study
Lecture 6.0 48 102.0 No turn

Start of activities 02/03/2020
End of activities 12/06/2020
Show course schedule 2019/20 Reg.2012 course timetable

Examination board
Board From To Members of the board
3 Commissione 2019/2020 01/10/2019 30/09/2020 RUSSO ANTONELLA (Presidente)
LOREGIAN ARIANNA (Membro Effettivo)

Prerequisites: General principles of Genetics, Molecular Biology, Cell Biology.
Target skills and knowledge: Several issues of Human Molecular Genetics will be discussed during the course, with focus on genome/karyotyope organization, regulation and stability of the human genome in health and disease.
Examination methods: Oral exam (conversation).
Assessment criteria: Comprehension, synthesis and communication of the key concepts, ability to critically associate different aspects together.
Course unit contents: Chromosome organization: chromosome banding, chromosome territories. Methodologies of molecular investigation from cytogenetics to genomics. The concept of synteny. Fragile sites. Chromosome breakpoints with respect to genome organization and stability. Copy number variation and disease. Centromeres, Neocentromeres and chromosome instability. Aneuploidy, from causes to consequences. Gene dosage imbalance and dosage compensation mechanisms. Aneuploidy and cancer. Polyploidy in normal tissues and cancer.
Mechanisms and meaning of genomic imprinting; pathological consequences.
X-inactivation in mammalian female. Consequences of loss/deregulation of inactivation status.
A global critical discussion on the topics of the course and main perspectives in biomedicine.
Planned learning activities and teaching methods: Lectures and critical discussion. Students will be invited to give a brief presentation of special topics by commenting a scientific article.
Additional notes about suggested reading: Review articles and book chapters will be indicated by the teacher.
Textbooks (and optional supplementary readings)
  • Strachan, Tom; Read, Andrew P., Human molecular geneticsTom Strachan and Andrew Read. New York: Garland Science, 2011. consigliato Cerca nel catalogo
  • Vogel, Friedrich; Speicher, Michael R.; Antonarakis, Stylianos E.; Motulsky, Arno G., Vogel and Motulsky╩╝s human geneticsproblems and approachesSpeicher, Antonarakis, Motulsky [editors]. Berlin: Springer, 2010. consigliato Cerca nel catalogo

Innovative teaching methods: Teaching and learning strategies
  • Lecturing
  • Interactive lecturing
  • Questioning
  • Active quizzes for Concept Verification Tests and class discussions
  • Loading of files and pages (web pages, Moodle, ...)

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

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