Biologia molecolare e genetica
A.Y. 2025/2026
Learning objectives
The goal of the course is to describe the genetic mechanisms underlying the transmission of Mendelian characters to identify the inheritance of diseases in humans evaluating the reproductive risk through the study of family trees. The course is also aimed at providing the future medical doctor with the tools to understand the molecular mechanisms at the basis of the main genetic disorders involving genes, and chromosomes, and the use of novel diagnostic tests.
These skills will allow the patient to be directed to more specific diagnostic and clinical investigations, to assess the inheritance risk of pathological trait, and / or identify the liability to a specific disorder, reducing environmental risk through appropriate lifestyles
These skills will allow the patient to be directed to more specific diagnostic and clinical investigations, to assess the inheritance risk of pathological trait, and / or identify the liability to a specific disorder, reducing environmental risk through appropriate lifestyles
Expected learning outcomes
At the end of the course the student should be able to draw a family tree, distinguishing the different types of inheritance, indicate the possible genetic and environmental factors in multifactorial diseases, classify mutations involving genes and chromosomes, describe the most common genetic disorders, and be able to calculate the frequency of a disease gene in a population, evaluating the presence of healthy carriers. The student must also have understood, the main strategies used in cytogenetic-molecular diagnosis, applied in pre- and post-natal genetic counseling
Lesson period: Second semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.
Course syllabus and organization
Surname A-L
Prerequisites for admission
Although some concepts will be reviewed, the topics covered during the Open Semester are assumed to be already acquired with particular reference for molecular biology to the structure of macromolecules (DNA, RNA, proteins), transcription and replication in prokaryotes, the structure of transcription factors, and the regulatory mechanisms of the lactose operon. For the Genetics module, students are expected to have already acquired Mendel's laws and their application to the inheritance of normal and pathological traits in humans through the construction of pedigrees, as well as gene interactions and the concepts of epistasis, genetic complementation, expressivity, and penetrance. Students must also be familiar with the organization of the human genome and be able to describe its variability through polymorphisms.
Assessment methods and Criteria
For both teaching tracks, the first three exam sessions will be held in written form and will include multiple-choice questions and open-ended questions aimed at assessing knowledge and understanding of the entire course syllabus.
The subsequent exam sessions will be held orally and will consist of an interview with the professors of the course.
The subsequent exam sessions will be held orally and will consist of an interview with the professors of the course.
Biologia molecolare
Course syllabus
· Introduction to the course, presentation of the exam format.
· Molecular mechanisms underlying replication in eukaryotes and replication as a therapeutic target.
· DNA mutability and repair: DNA damage and molecular mechanisms of repair and damage tolerance. Human diseases associated with DNA repair dysfunctions.
· DNA analysis techniques (electrophoresis, restriction enzymes, PCR, digital PCR, FISH, Sanger sequencing, automated sequencing, Next Generation Sequencing, Nanopore) and their applications in medicine.
· Molecular approaches to modify DNA (gene therapy, genome editing) and their applications in medicine.
· Review of general concepts of eukaryotic transcription.
· Techniques to evaluate gene expression (Northern blot, in situ hybridization, quantitative RT-PCR, RNA sequencing).
· Different structural levels of chromatin and their involvement in the regulation of gene expression.
· DNA methylation, related diseases, techniques for methylation analysis, and therapies targeting methylation.
· Histone modifications and the histone code, chromatin remodeling complexes, histone variants, and associated diseases.
· Non-coding RNAs and their role in gene expression regulation.
· Molecular mechanisms of splicing, splicing-related diseases, and potential therapeutic approaches under development.
· RNA editing in health and disease.
· Protein structure and analytical techniques for their study.
· Analytical techniques for proteome analysis.
· Protein synthesis: key players and molecular mechanisms involved.
· Post-translational modifications and mechanisms controlling protein stability.
· Molecular mechanisms underlying replication in eukaryotes and replication as a therapeutic target.
· DNA mutability and repair: DNA damage and molecular mechanisms of repair and damage tolerance. Human diseases associated with DNA repair dysfunctions.
· DNA analysis techniques (electrophoresis, restriction enzymes, PCR, digital PCR, FISH, Sanger sequencing, automated sequencing, Next Generation Sequencing, Nanopore) and their applications in medicine.
· Molecular approaches to modify DNA (gene therapy, genome editing) and their applications in medicine.
· Review of general concepts of eukaryotic transcription.
· Techniques to evaluate gene expression (Northern blot, in situ hybridization, quantitative RT-PCR, RNA sequencing).
· Different structural levels of chromatin and their involvement in the regulation of gene expression.
· DNA methylation, related diseases, techniques for methylation analysis, and therapies targeting methylation.
· Histone modifications and the histone code, chromatin remodeling complexes, histone variants, and associated diseases.
· Non-coding RNAs and their role in gene expression regulation.
· Molecular mechanisms of splicing, splicing-related diseases, and potential therapeutic approaches under development.
· RNA editing in health and disease.
· Protein structure and analytical techniques for their study.
· Analytical techniques for proteome analysis.
· Protein synthesis: key players and molecular mechanisms involved.
· Post-translational modifications and mechanisms controlling protein stability.
Teaching methods
Professors disseminate instruction througt traditional frontal teaching, non-formal teaching, and innovative teaching methods.
The module consists of frontal lectures and classroom exercises with slide shows in Power Point. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to consider the possible biomedical applications deduced from the acquired knowledge.
The teaching material consisting of presentations in PDF format is made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
The module consists of frontal lectures and classroom exercises with slide shows in Power Point. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to consider the possible biomedical applications deduced from the acquired knowledge.
The teaching material consisting of presentations in PDF format is made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
Teaching Resources
· Biologia molecolare. Amaldi - Benedetti - Pesole - Plevani. Casa Editrice Ambrosiana
· Biologia molecolare del gene. Watson - Baker - Bell - Gann - Levine - Losick. Zanichelli
· Biologia molecolare della cellula. Bruce Alberts et al. Zanichelli.
· Biologia molecolare del gene. Watson - Baker - Bell - Gann - Levine - Losick. Zanichelli
· Biologia molecolare della cellula. Bruce Alberts et al. Zanichelli.
Genetica medica
Course syllabus
· Introduction to the course, presentation of the exam format.
· Interpretation of pedigrees for different types of inheritance in humans, including normal and pathological Mendelian traits.
· Calculation of reproductive risk for transmitting a pathological trait.
· Quantitative traits and complex diseases.
· Population genetics: calculation of allele and genotype frequencies and application of the Hardy-Weinberg law to predict allele and genotype frequencies associated with normal and pathological conditions.
· Overview of evolutionary factors affecting allele frequencies, with particular attention to selection of healthy carriers (heterozygous genotypes) in specific environmental conditions.
· Interpretation of pedigrees for different types of inheritance in humans, including normal and pathological Mendelian traits.
· Calculation of reproductive risk for transmitting a pathological trait.
· Quantitative traits and complex diseases.
· Population genetics: calculation of allele and genotype frequencies and application of the Hardy-Weinberg law to predict allele and genotype frequencies associated with normal and pathological conditions.
· Overview of evolutionary factors affecting allele frequencies, with particular attention to selection of healthy carriers (heterozygous genotypes) in specific environmental conditions.
Teaching methods
The module consists of frontal lectures and classroom exercises with slide shows in Power Point. Innovative teaching will be provided in the form of discussion of clinical cases, seminars and online exercises. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to consider the possible biomedical applications deduced from the acquired knowledge.
The teaching material consisting of presentations in PDF format is made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
The teaching material consisting of presentations in PDF format is made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
Teaching Resources
Genetica in Medicina " Thompson & Thompson - EDISES
Modules or teaching units
Biologia molecolare
BIO/11 - MOLECULAR BIOLOGY - University credits: 4
Lessons: 50 hours
Professors:
Frasca Angelisa, Landsberger Nicoletta, Marozzi Anna, Riva Paola Vanda, Santaguida Stefano
Genetica medica
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 18 hours
Lessons - Innovative Teaching : 6.5 hours
Lessons - Innovative Teaching : 6.5 hours
Professor:
Ghezzi Daniele
Surname M-Z
Prerequisites for admission
Although some concepts will be reviewed, the topics covered during the Open Semester are assumed to be already acquired with particular reference for molecular biology to the structure of macromolecules (DNA, RNA, proteins), transcription and replication in prokaryotes, the structure of transcription factors, and the regulatory mechanisms of the lactose operon. For the Genetics module, students are expected to have already acquired Mendel's laws and their application to the inheritance of normal and pathological traits in humans through the construction of pedigrees, as well as gene interactions and the concepts of epistasis, genetic complementation, expressivity, and penetrance. Students must also be familiar with the organization of the human genome and be able to describe its variability through polymorphisms.
Assessment methods and Criteria
For both teaching tracks, the first three exam sessions will be held in written form and will include multiple-choice questions and open-ended questions aimed at assessing knowledge and understanding of the entire course syllabus.
The subsequent exam sessions will be held orally and will consist of an interview with the professors of the course.
The subsequent exam sessions will be held orally and will consist of an interview with the professors of the course.
Biologia molecolare
Course syllabus
· Introduction to the course, presentation of the exam format.
· Molecular mechanisms underlying replication in eukaryotes and replication as a therapeutic target.
· DNA mutability and repair: DNA damage and molecular mechanisms of repair and damage tolerance. Human diseases associated with DNA repair dysfunctions.
· DNA analysis techniques (electrophoresis, restriction enzymes, PCR, digital PCR, FISH, Sanger sequencing, automated sequencing, Next Generation Sequencing, Nanopore) and their applications in medicine.
· Molecular approaches to modify DNA (gene therapy, genome editing) and their applications in medicine.
· Review of general concepts of eukaryotic transcription.
· Techniques to evaluate gene expression (Northern blot, in situ hybridization, quantitative RT-PCR, RNA sequencing).
· Different structural levels of chromatin and their involvement in the regulation of gene expression.
· DNA methylation, related diseases, techniques for methylation analysis, and therapies targeting methylation.
· Histone modifications and the histone code, chromatin remodeling complexes, histone variants, and associated diseases.
· Non-coding RNAs and their role in gene expression regulation.
· Molecular mechanisms of splicing, splicing-related diseases, and potential therapeutic approaches under development.
· RNA editing in health and disease.
· Protein structure and analytical techniques for their study.
· Analytical techniques for proteome analysis.
· Protein synthesis: key players and molecular mechanisms involved.
· Post-translational modifications and mechanisms controlling protein stability.
· Molecular mechanisms underlying replication in eukaryotes and replication as a therapeutic target.
· DNA mutability and repair: DNA damage and molecular mechanisms of repair and damage tolerance. Human diseases associated with DNA repair dysfunctions.
· DNA analysis techniques (electrophoresis, restriction enzymes, PCR, digital PCR, FISH, Sanger sequencing, automated sequencing, Next Generation Sequencing, Nanopore) and their applications in medicine.
· Molecular approaches to modify DNA (gene therapy, genome editing) and their applications in medicine.
· Review of general concepts of eukaryotic transcription.
· Techniques to evaluate gene expression (Northern blot, in situ hybridization, quantitative RT-PCR, RNA sequencing).
· Different structural levels of chromatin and their involvement in the regulation of gene expression.
· DNA methylation, related diseases, techniques for methylation analysis, and therapies targeting methylation.
· Histone modifications and the histone code, chromatin remodeling complexes, histone variants, and associated diseases.
· Non-coding RNAs and their role in gene expression regulation.
· Molecular mechanisms of splicing, splicing-related diseases, and potential therapeutic approaches under development.
· RNA editing in health and disease.
· Protein structure and analytical techniques for their study.
· Analytical techniques for proteome analysis.
· Protein synthesis: key players and molecular mechanisms involved.
· Post-translational modifications and mechanisms controlling protein stability.
Teaching methods
The module will consist of frontal lectures with slide shows in Power Point. In all teaching moments, students will be exhorted to find experimental strategies useful for solving small scientific problems or to consider the possible biomedical, diagnostic and clinical applications deduced from the acquired knowledge.
The teaching material consisting of presentations in PDF format will be made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
The teaching material consisting of presentations in PDF format will be made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
Teaching Resources
· Biologia molecolare. Amaldi - Benedetti - Pesole - Plevani. Casa Editrice Ambrosiana
· Biologia molecolare del gene. Watson - Baker - Bell - Gann - Levine - Losick. Zanichelli
· Biologia molecolare della cellula. Bruce Alberts et al. Zanichelli.
· Biologia molecolare del gene. Watson - Baker - Bell - Gann - Levine - Losick. Zanichelli
· Biologia molecolare della cellula. Bruce Alberts et al. Zanichelli.
Genetica medica
Course syllabus
· Introduction to the course, presentation of the exam format.
· Interpretation of pedigrees for different types of inheritance in humans, including normal and pathological Mendelian traits.
· Calculation of reproductive risk for transmitting a pathological trait.
· Quantitative traits and complex diseases.
· Population genetics: calculation of allele and genotype frequencies and application of the Hardy-Weinberg law to predict allele and genotype frequencies associated with normal and pathological conditions.
· Overview of evolutionary factors affecting allele frequencies, with particular attention to selection of healthy carriers (heterozygous genotypes) in specific environmental conditions.
· Interpretation of pedigrees for different types of inheritance in humans, including normal and pathological Mendelian traits.
· Calculation of reproductive risk for transmitting a pathological trait.
· Quantitative traits and complex diseases.
· Population genetics: calculation of allele and genotype frequencies and application of the Hardy-Weinberg law to predict allele and genotype frequencies associated with normal and pathological conditions.
· Overview of evolutionary factors affecting allele frequencies, with particular attention to selection of healthy carriers (heterozygous genotypes) in specific environmental conditions.
Teaching methods
The module will consist of frontal lectures with slide shows in Power Point. In all teaching moments, students will be exhorted to find experimental strategies useful for solving small scientific problems or to consider the possible biomedical, diagnostic and clinical applications deduced from the acquired knowledge.
The teaching material consisting of presentations in PDF format will be made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
The teaching material consisting of presentations in PDF format will be made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
Teaching Resources
"Genetica in Medicina " Thompson & Thompson - EDISES
Modules or teaching units
Biologia molecolare
BIO/11 - MOLECULAR BIOLOGY - University credits: 4
Lessons: 50 hours
Professors:
Frasca Angelisa, Landsberger Nicoletta, Marozzi Anna, Rusconi Francesco Sebastiano, Santaguida Stefano
Genetica medica
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 18 hours
Lessons - Innovative Teaching : 6.5 hours
Lessons - Innovative Teaching : 6.5 hours
Professor:
Finelli Palma
Educational website(s)
Professor(s)
Reception:
By appointment
Reception:
by telephone appointment
via L. Temolo 4, 20126 Milano - Lab of Neurogenetics and mitochondrial disorders
Reception:
By appointment
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale via Fratelli Cervi 93 Segrate (MI)