First cycle
degree courses
Second cycle
degree courses
Single cycle
degree courses
School of Medicine
Course unit
MEP3052680, 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 8.0
Type of assessment Mark
Course unit English denomination ADVANCED BIOMEDICAL TECHNOLOGIES
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 LEONARDO SALVIATI MED/03

ECTS: details
Type Scientific-Disciplinary Sector Credits allocated
Core courses MED/03 Medical Genetics 4.0
Core courses MED/07 Microbiology and Clinical Microbiology 4.0

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

Type of hours Credits Teaching
Hours of
Individual study
Lecture 8.0 64 136.0 No turn

Start of activities 30/09/2019
End of activities 18/01/2020
Show course schedule 2019/20 Reg.2012 course timetable

Examination board
Board From To Members of the board
5 Commissione 2019/2020 01/10/2019 30/10/2020 SALVIATI LEONARDO (Presidente)

Prerequisites: Advanced knowledge in virology, immunology and molecular biology. DNA structure and replication.
Target skills and knowledge: The course will provide the students with important elements to understand the molecular aspects of the most recent Molecular diagnostic and genome editing techniques and their potential application for treatment of chronic viral infections such as HIV-1, HBV and HSV.
Examination methods: Written examination or oral presentation of recent scientific papers.
Assessment criteria: The exam will evaluate the students' knowledge on the topics treated during the lessons, but also the ability to deal critically with the proposed problems.
Course unit contents: ADVANCED BIOMEDICAL TECHNOLOGIES: The course will be comprised of 7 modules:

1) Genome structure: genes, pseudogens, SNPs, CNVs and repeated sequences. Bioinformatics databases. Relevance to molecular diagnosis

2) Mutations and mechanisms of dominance / recessivity. Allelic frequencies and Hardy-Weinberg's law. Database of genomic variants

3) Sanger sequencing and classic techniques for mutation detection.

4) Next generation sequencing in routine diagnostics: techniques, protocols, multigene panels, WES.

5) Interpretation of NGS data. Software and analysis strategies

6) Experimental models for the validation of variants

7) The problem of CNV. MLPA, RQ-PCR, CGH array and NGS

GENOME EDITING: Introduction to genome editing, Zinc Finger nucleases, Tale nucleases, CRISPR/Cas9. Problems related to the treatment of chronic viral infections, antiviral drugs resistance. Application of genome editing tools for the in vitro treatment of chronic viral diseases: HIV-1, HBV, HSV-1. Clinical trials for therapy of HIV-1.

CELL THERAPY: Stem cell research and biotechnology has great promise for the future of regenerative medicine. This has been the subject of great excitement and much progress has been made in understanding their mechanisms and unraveling their potential for therapeutic applications.
Limbal stem cell deficiency (LCSD) represents a major cause of visual impairment due to corneal opacification. It can occur unilaterally or bilaterally. The most frequent form is the unilateral LSCD caused by chemical or thermal injuries. When LSCD occurs, the neighboring conjunctival epithelium migrates over the cornea covering the corneal surface (corneal pannus) and therefore causing poor vision or even blindness. Conventional penetrating keratoplasty (PK) is not a therapeutic solution for pathologies or injuries leading to LSCD. The therapeutic use of limbal cultures for the permanent regeneration of corneal epithelium in patients with LSCD has been reported in many studies. According to the guidelines for good manufacturing practice (GMP), strictly regulated procedures and stringent quality control tests are now required to manipulate stem cells as “medicinal products” and make engraftment safer and eventually more successful.
This course describes techniques for optimal preparation of limbal stem cell grafts, including 1) a reliable impression cytology and imaging assays for the grading of LSCD, 2) culture methods that maintain high percentages of limbal stem cells, 3) the use of specific markers for the detection of corneal, conjunctival, and limbal stem cells, and 4) assays to evaluate the presence of contaminants, such as murine fibroblasts, endotoxins, mycoplasmae, and viral particles, in the cultured graft.
This course will take students on a journey into the stem cell biology, regenerative medicine and biotech revolution, revealing the modern scientific research behind stem cells and will provide the understanding of the various applications of this technology.
Planned learning activities and teaching methods: ADVANCED BIOMEDICAL TECHNOLOGIES: Each module will include a theoretical introduction and a practical exercise part in which specific problems will be addressed.
GENOME EDITING: Frontal lectures and Journal clubs.
Lesson 1. Introduction to the course, Stem cell properties: Self-renewal, Potency and Aging. Asymmetric cell division. Stem cell niche. Keratinocyte stem cells, markers location and properties: the eye shows the way. Clonal analysis: Holoclone, Meroclone and Paraclone.
Lesson 2. p63 identifies keratinocyte stem cells. Q-FIHC: Laser scanning confocal microscopy and biomedical imaging applications.
Lesson 3. Cell therapy with corneal epithelial stem cells: a reality. Culture Method and Preservation of Limbal Stem Cells. Outcome of autologous cultured limbal stem cell grafts. Tissue Engineering: Reconstruction of a human hemicornea through natural scaffolds compatible with the growth of corneal epithelial stem cells and stromal keratocytes.
Lesson 4. Stem cell-based therapies classified as “medicinal products” and manipulation regulated according to the manufacture of biological medicinal products for human use.
Lesson 5. Advances in stem cell and cell-based gene therapy approaches for p63-related disorders: EEC Syndrome. Developing of therapeutically effective eye-drops, containing siRNA molecules in a GMP setting. Personalized stem cell therapy to correct corneal defects due to a unique homozygous-heterozygous mosaicism of EEC syndrome.
Additional notes about suggested reading: All material (slides, scientific papers) will be provided during the course in pdf format.
Specific articles and reviews (which will be provided directly to students)
Tom Strachan, Andrew Read
Human Molecular Genetics
Garlan Science
Latest edition
Tom Strachan, Judith Goodship, Patrick Chinnery
Genetics and Genomics in Medicine
Garlan Science
Latest edition
Textbooks (and optional supplementary readings)
  • Tom Strachan, Andrew Read, Human Molecular Genetics. --: Garlan Science, --. Latest edition Cerca nel catalogo
  • Tom Strachan, Judith Goodship, Patrick Chinnery, Genetics and Genomics in Medicine. --: Garlan Science, --. Latest edition

Innovative teaching methods: Teaching and learning strategies
  • Problem based learning
  • Case study
  • Working in group
  • Questioning
  • Problem solving
  • Peer assessment
  • Students peer review

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

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