Genetic pathology and human genetics - Biotechnology of human reproduction Single channel
Chair (Coordinator) and Rapporteur: GIANLUCA CANETTIERI
Module 1: Genetic pathology and human genetics I
- Activity type
- Discipline biotecnologiche comuni
- SSD
- MED/04
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 3
- Hours distribution
- 24 classroom hours
- Lecturers
- GIANLUCA CANETTIERI
Module 2: Genetic pathology and human genetics II
- Activity type
- Discipline medico-chirurgiche e della riproduzione umana
- SSD
- MED/05
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 3
- Hours distribution
- 24 classroom hours
- Lecturers
- DONATELLA PAOLI
SALVATORE RAFFA
Module 3: Biotechnology of human reproduction
- Activity type
- Attività formative affini o integrative
- SSD
- MED/46
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 3
- Hours distribution
- 24 classroom hours
- Lecturers
- LUCIA DI MARCOTULLIO
Objectives
The main aspects inherent in the organization and regulation of the human genome, mutation, and cytogenetics will be explained in this course. Molecular aspects of monogenic and complex diseases and basic information on human genome instability will be developed. Practical applications of human genetics (genetic counseling, prenatal diagnosis, genetic screening) will also be described. Issues related to the causes of mutation as responsible for inherited diseases will also be addressed.
The aim of the Biotechnology of Reproduction module is to acquire scientific and professional skills in the area of reproduction related to biotechnology. To achieve this objective, an advanced knowledge base will be provided on cryobiology, molecular biology of the male gamete, embryology, pathophysiology of reproduction and Assisted Reproductive Fertilization techniques.
Knowledge will be acquired on the causes of infertility and first and second level laboratory diagnostics of male infertility, ultrastructural physiopathology of the male gamete and the clinical impact on fertility. The students will be trained in both basic and applied research in the diagnosis and resolution of pathologies involved in fertility.
Learning outcomes
Understand the organization and regulation of the human genome, distinguishing the different levels of gene expression control and their functional implications. Describe the main types of genetic mutations and the molecular mechanisms underlying their occurrence, as well as their role in the development of hereditary diseases. Interpret the fundamentals of cytogenetics and recognize the main chromosomal abnormalities and their phenotypic consequences. Know the pathophysiological bases and the clinical–molecular aspects of genetic diseases, understanding the relationships between genomic alterations, cellular dysfunction, and clinical manifestations. Analyze the molecular bases of monogenic and complex diseases, with particular attention to the pathophysiological mechanisms leading to disease onset. Apply knowledge of human genetics to clinical contexts, including the principles of genetic counseling, prenatal diagnosis, and genetic screening. Integrate molecular alterations with the pathogenesis of disease processes at different levels of biological organization (cellular, tissue, organ, and systemic). Acquire the conceptual foundations for the design of gene and personalized therapies, within the framework
Prerequisites
To successfully follow the course, students should have a solid background in cell and molecular biology, particularly regarding the structure and function of DNA, RNA, and proteins, as well as the mechanisms of replication, transcription, and translation, and the regulation of gene expression. A good understanding of the fundamental principles of Mendelian genetics, meiosis, recombination, and genetic mutations is required. Basic knowledge of biochemistry and developmental biology will help in understanding the molecular bases of genetic diseases. Familiarity with statistics and molecular laboratory techniques will also facilitate the interpretation of genetic and genomic data.
Programme
Module: Genetic pathology and human genetics I
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.
Module: Genetic pathology and human genetics II
N/D
Module: Biotechnology of human reproduction
-Anatomy of the human genome and Mendelian inheritance (6 hours)
-Mutations and variability of the human genome (6 hours)
-Genomic, chromosomal and genic mutations (8 hours)
-Diseases from genomic imprinting, estimation of mutation frequencies (6 hours)
-Molecular pathogenesis of the main genetic diseases (10 hours)
-Molecular and epigenetic bases of hereditary tumors (8 hours)
-Principles of gene therapy and innovative approaches in the treatment of genetic diseases and tumors (6 hours)
Books
Module: Genetic pathology and human genetics I
- Genetica Umana e medica, Neri, Genuardi, Elsevier
- Biologia cellulare e genetica, Parte Seconda – GENETICA, Fantoni, Tripodi, Piccin
Module: Genetic pathology and human genetics II
N/D
Module: Biotechnology of human reproduction
-Genetica Umana e medica, Neri, Genuardi, Elsevier
-Biologia cellulare e genetica, Parte Seconda – GENE TICA, Fantoni, Tripodi, Piccin
-Notes of the lessons and dispense slides provided by the professors
-Updated reviews on the treated topics
Bibliography
Module: Genetic pathology and human genetics I
- Genetica Umana e medica, Neri, Genuardi, Elsevier
- Biologia cellulare e genetica, Parte Seconda – GENETICA, Fantoni, Tripodi, Piccin
Module: Genetic pathology and human genetics II
N/D
Module: Biotechnology of human reproduction
N/D
Lessons mode
The course consists in lectures where students engage in continuous interaction and are encouraged to ask questions about the topics being discussed.
Frequency
Mandatory attendance
Exam mode
The exam consists of an oral discussion of topics covered during the lessons in order to assess the student's understanding of the course content and critical thinking skills.
Example exam questions
Cystic Fibrosis
Semen Cryopreservation
SMA
Muscular Dystrophies
Gene Therapy with Biological Vectors
Assisted Fertilization Techniques
Arguments
Module: Genetic pathology and human genetics I
- General information on genetic pathology, classification of genetic diseases and orientation to the course
- Autosomal and X-Linked Mendelian Diseases (4 lessons)
- Hereditary cancer diseases (3 lessons)
- Gene Therapy: Principles and Clinical Applications (2 lessons)
- Theoretical and practical lessons (3 lessons)
Module: Genetic pathology and human genetics II
N/D
Module: Biotechnology of human reproduction
- anatomy of the human genome (1 lesson)
- Mutations, causes, repair mechanisms (2 lessons)
- Hereditary diseases with non-Mendelian inheritance (3 lessons)
- Hereditary diseases with Mendelian inheritance (3 lessons)
- Theoretical and practical lessons (3 lessons)
Sustainability goals
- Academic year2026/2027
- Degree program to which the course belongsMedical Biotechnology
- Languageita
- CFU9 CFU, distributed among 3 integrated didactic modules
- Total duration72 hours