THREE-DIMENSIONAL MODELING

Course objectives

The aim of the Course of Biotechnology of human reproduction is to provide a specific training in the field of gametology and fertility. In this course of study we will discuss the main aspects of the organization and regulation of the human genome, mutation, cytogenetics. The molecular aspects will be developed for monogenic and complex diseases, and basic information about the instability of the human genome. Human genetics and its practical applications will also be described (genetic counseling, prenatal diagnosis, genetic screening). It will also address the question concerning the causes of mutations as responsible for hereditary diseases. Provide the basis for the analysis of the molecular mechanisms underlying genetic diseases, pathophysiological and molecular mechanisms leading to the onset of the diseases. Integrate the programs of the other courses and modules that refer to the scientific-disciplinary sector General Pathology (MED / 04). Acquire the ability to connect the molecular alterations with the pathogenesis of diseases at higher integration levels (cells, tissues, organs, body). Provide the conceptual basis for the design of personalized and gene therapy approaches.

Channel 1
GIANLUCA CANETTIERI Lecturers' profile

Program - Frequency - Exams

Course program
Molecular pathogenesis of the main Mendelian genetic diseases (Duchenne muscular dystrophy, cystic fibrosis, ADA-SCID, X-SCID, OTC deficiency), molecular basis of tumors, cancer as a genetic disease, the "standard dogma of tumors, tumors from mutations of oncogenes and tumor suppressors, Knudson's double hits theory, loss of heterozygosity, retinoblastoma, hereditary breast cancer, Li-Fraumeni syndrome, Wilms tumor, familial adenomatous polyposis (FAP) and WNT signaling, Gorlin syndrome, medulloblastoma and alterations of the Hedgehog pathway, tumor metabolism, Warburg effect, molecular mechanisms of metabolic reprogramming, Von Hippel-Lindau syndrome, energy sensors and hereditary diseases, Peutz-Jegers syndrome, Cowden syndrome, Tuberous sclerosis, Myc amplification and lymphoma Burkitt's, definition and types of gene therapy, naked DNA gene therapy, liposomes, retroviruses, adenoviruses, adeno-associated viruses, lentiviruses, therapy cancer gene.
Prerequisites
The basic knowledge of genetics, molecular and cellular biology is required
Books
- Genetica Umana e medica, Neri, Genuardi, Elsevier - Biologia cellulare e genetica, Parte Seconda – GENETICA, Fantoni, Tripodi, Piccin
Teaching mode
Oral examination on all modules
Frequency
Attendance required
Exam mode
Oral examination on all modules
Bibliography
- Genetica Umana e medica, Neri, Genuardi, Elsevier - Biologia cellulare e genetica, Parte Seconda – GENETICA, Fantoni, Tripodi, Piccin
Lesson mode
Oral examination on all modules
  • Academic year2025/2026
  • CourseMedical Biotechnology
  • CurriculumBiomolecolare
  • Year2nd year
  • Semester1st semester
  • SSDMED/04
  • CFU3