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 medico-chirurgiche e riproduzione umana
- SSD
- MED/04
- Year
- N/D
- Semester
- N/D
- CFU
- 3
- Hours distribution
- 24 classroom hours
- Lecturers
- GIANLUCA CANETTIERI
Module 2: Genetic pathology and human genetics II
- Activity type
- Discipline medico-chirurgiche e riproduzione umana, Medicina di laboratorio e diagnostica
- SSD
- MED/05, MED/05
- Year
- N/D
- Semester
- N/D
- CFU
- 3
- Hours distribution
- 24 classroom hours
- Lecturers
- DONATELLA PAOLI
SALVATORE RAFFA
Module 3: Biotechnology of human reproduction
- Activity type
- Discipline medico-chirurgiche e riproduzione umana
- SSD
- MED/46
- Year
- N/D
- Semester
- N/D
- CFU
- 3
- Hours distribution
- 24 classroom hours
- Lecturers
- LUCIA DI MARCOTULLIO
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.
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
MODULE OF BIOTECHNOLOGY AND HUMAN REPRODUCTION
(4 CFU)
-Spermatogenesis
-Spermatogenesis and hormonal control
-Definition and causes of infertility
-Semen analysis: modalities of execution and current guidelines
-Analysis of morphological structure of sperm (light microscopy)
-Assessment of sperm kinetics by optical microscopy and image analysis systems
-Sperm aneuploidy
-Spermatogenesis genetic control
-Protamine gene study
-Molecular diagnostics of male infertility
-Antisperm autoimmunity
-Cryopreservation of male and female gametes
-Testicular and ovarian tissue cryopreservation
-Methods of selection of male gametes
-Methods of manipulation of oocytes
-Study of oocyte maturation
-“In vivo” assisted reproduction techniques (IUI)
-“In vitro” assisted reproduction techniques (FIVET, ICSI)
-“In vitro” assisted reproduction techniques with testicular sperm retrieval (TESA, TESE)
-Ultrastructural pathology of semen and fertility prognosis. Flagellar abnormalities in motility disorders
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
L. Gandini, A. Lenzi -BIOTECNOLOGIE DELLA RIPRODUZIONE UMANA- Carocci Editore
L. Gandini,F.Lombardo, D.Paoli, A.Lenzi- DIAGNOSTICA PER IMMAGINI DELLO SPERMATOZOO UMANO- Carocci Editore
- Chemes EH, Rawe YV. Sperm pathology: a step beyond descriptive morphology. Origin, characterization and fertility potential of abnormal sperm phenotypes in infertile men. Hum Reprod Update. 2003 Sep-Oct;9(5):405-28.
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
- SEMEN ANALYSIS
- CAUSES OF MALE INFERTILITY
- SEMINOLOGY LABORATORY ORGANISATION
- QUALITY CONTROL IN SEMINOLOGY
- COMPUTER-AIDED SPERM ANALYSIS
- STUDY OF SPERM CHROMATIN
- ANTISPERM ANTIBODIES
- CRYOPRESERVATION OF SEMEN, TESTICULAR TISSUE AND OVARIAN TISSUE
- SPERM SEPARATION TECHNIQUES. NEW TECHNIQUES FOR SELECTING SPERMATOZOA
- ASSISTED REPRODUCTIVE TECHNOLOGIES
- ULTRASTRUCTURAL STUDY OF THE MALE GAMETE UNDER AN ELECTRON MICROSCOPE
- ULTRASTRUCTURAL STUDY OF THE MALE GAMETE UNDER AN ELECTRON MICROSCOPE
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
- Mandatory presenceNo
- Languageita
- CFU9 CFU, distributed among 3 integrated didactic modules
- Total duration72 hours