Biology and Genetics
A.Y. 2021/2022
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: First 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
Linea A-L
Responsible
More specific information on the delivery modes of training activities for academic year 2021/22 will be provided over the coming months, based on the evolution of the public health situation.
Prerequisites for admission
No specific pre-requirement is requested for the admission to the course of Biology and Genetics.
Assessment methods and Criteria
At the end of both modules, students will have the opportunity to take a written itinere test. The final mark will be the arithmetic mean of the two marks obtained by the student providing that he/she will have passed both tests. The test will consist of multiple choice questions with 5 possible answers; one or more answers may be correct. The questions will focus on most of the topics covered in class. Those who have not passed both tests will have to take the exam according to regular sessions. For the verification, students will take an oral exam for each module of the entire Biology and Genetics course. The final mark will be calculated on the basis of the weight in CFU of the individual modules.
Experimental biology
Course syllabus
Lines A-L e M-Z:
CELL BIOLOGY:
· The organization of living matter and the structural framework of the cell. Structure and functions of pro- vs. eukaryotic cells. Conservation of developmental programs among different species.
· Experimental models in cell biology. Cell models and organisms for the study of biological phenomena.
· The stem cell and its relevance for studying pathogenesis of diseases. Definition of stemness. Identification of master regulators of stem cell pluripotency. The induced pluripotent stem cell.
· Signal transduction. Cell membrane structure. Nature of intercellular communication and receptors. Second messengers.
· The cell cycle. Cell cycle phases. Regulation of cell cycle by extracellular stimuli. Cell cycle checkpoints. Role and regulation of cyclins.
· Cell death. Differences between necrosis and apoptosis. Milestones in apoptosis research. Roles of apoptosis. Molecular regulation of apoptosis. Caspases. The apoptosome. Extrinsic death pathway.
· Oncogenes and cancer. Classes of oncogenes. Mechanisms of proto-oncogenes activation. Chromosomal alterations and cancer. Multiple mutations in cancer progression. Tumor suppressor genes.
· Synthesis, folding and protein traffic and degradation. The quality control of proteins within the endoplasmic reticulum (ER) lumen. Folding enzymes and chaperons. The ubiquitin/proteasome system and autophagy.
MOLECULAR BIOLOGY:
· Structure of nucleic acids: a quick overview of the main experiments that resulted fundamental for understanding their structure and of the techniques useful for their purification and analysis.
· The structure of proteins and the techniques useful for their purification and analysis.
· Genes and genomes: organization and function.
· Methods in molecular biology: principles and applications.
· Transcription in prokaryotes: molecular mechanisms.
· Transcriptional regulation in prokaryotes and the lactose operon as a paradigm of negative and positive regulation.
· Transcription in eukaryotes: the factors and molecular mechanisms involved.
· RNA processing and its involvement in human health.
· Chromatin structure and DNA topology.
· Epigenetics: DNA methylation in physiological and pathological conditions; the histone code hypothesis and how an aberrant chromatin structure can induce human disorders; non-coding RNAs as regulatory mechanisms of gene expression and their relevance in human health.
· Protein synthesis: its protagonists and the involved molecular mechanisms.
· Main molecular mechanisms by which the genetic information can be preserved: DNA replication and repair.
CELL BIOLOGY:
· The organization of living matter and the structural framework of the cell. Structure and functions of pro- vs. eukaryotic cells. Conservation of developmental programs among different species.
· Experimental models in cell biology. Cell models and organisms for the study of biological phenomena.
· The stem cell and its relevance for studying pathogenesis of diseases. Definition of stemness. Identification of master regulators of stem cell pluripotency. The induced pluripotent stem cell.
· Signal transduction. Cell membrane structure. Nature of intercellular communication and receptors. Second messengers.
· The cell cycle. Cell cycle phases. Regulation of cell cycle by extracellular stimuli. Cell cycle checkpoints. Role and regulation of cyclins.
· Cell death. Differences between necrosis and apoptosis. Milestones in apoptosis research. Roles of apoptosis. Molecular regulation of apoptosis. Caspases. The apoptosome. Extrinsic death pathway.
· Oncogenes and cancer. Classes of oncogenes. Mechanisms of proto-oncogenes activation. Chromosomal alterations and cancer. Multiple mutations in cancer progression. Tumor suppressor genes.
· Synthesis, folding and protein traffic and degradation. The quality control of proteins within the endoplasmic reticulum (ER) lumen. Folding enzymes and chaperons. The ubiquitin/proteasome system and autophagy.
MOLECULAR BIOLOGY:
· Structure of nucleic acids: a quick overview of the main experiments that resulted fundamental for understanding their structure and of the techniques useful for their purification and analysis.
· The structure of proteins and the techniques useful for their purification and analysis.
· Genes and genomes: organization and function.
· Methods in molecular biology: principles and applications.
· Transcription in prokaryotes: molecular mechanisms.
· Transcriptional regulation in prokaryotes and the lactose operon as a paradigm of negative and positive regulation.
· Transcription in eukaryotes: the factors and molecular mechanisms involved.
· RNA processing and its involvement in human health.
· Chromatin structure and DNA topology.
· Epigenetics: DNA methylation in physiological and pathological conditions; the histone code hypothesis and how an aberrant chromatin structure can induce human disorders; non-coding RNAs as regulatory mechanisms of gene expression and their relevance in human health.
· Protein synthesis: its protagonists and the involved molecular mechanisms.
· Main molecular mechanisms by which the genetic information can be preserved: DNA replication and repair.
Teaching methods
Lines A-L e M-Z:
The module consists of frontal lectures. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to critically analyze the results of some experiments or, eventually, 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 and revealed by easy-badge.
Linea M-Z:
In each module, the course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded onto the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
The module consists of frontal lectures. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to critically analyze the results of some experiments or, eventually, 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 and revealed by easy-badge.
Linea M-Z:
In each module, the course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded onto the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
Teaching Resources
Linee A -L- e M-Z:
· B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Roberts, P. Walter
Biologia molecolare della cellula, Zanichelli
· H. Lodish, A. Berk, C.A. Kaiser, M. Krieger, M.P. Scott, A. Bretscher, H. Ploegh, P. Matsudaira
Biologia molecolare della cellula, Zanichelli
· G. Karp
Biologia cellulare e Molecolare Edises
· B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Roberts, P. Walter
Biologia molecolare della cellula, Zanichelli
· H. Lodish, A. Berk, C.A. Kaiser, M. Krieger, M.P. Scott, A. Bretscher, H. Ploegh, P. Matsudaira
Biologia molecolare della cellula, Zanichelli
· G. Karp
Biologia cellulare e Molecolare Edises
Medical genetics
Course syllabus
Lines A-L e M-Z:
HUMAN GENETICS:
Human Genome Project. The Human Genome organization: genes and non-coding sequences. Chromosomal bases of inheritance mitosis and meiosis, biological cycles, sexual reproduction. Meiosis as a source of genetic variability. Female and male gametogenesis.
Principles of Mendelian inheritance: genotypic and phenotypic relationships in Mendelian crossbreeds: examples and applications. Interaction between alleles and phenotypic effect: complete, incomplete, co-dominance. Interactions between different genes: epistasis and lethal genes. Pleiotropism. Multiple allele systems in humans: blood groups.
Mendelism in humans: Mendelian and non-mendelian traits classification of genetic diseases, monogenic inheritance and multifactorial inheritance. Genetic analysis in man: construction of family trees: symbology and criteria for the collection of family history, the main types of pedigree Problems of interpretation of family trees: incomplete penetration, variable expressivity, de novo mutations, genetic mosaicism, allelic and locus heterogeneity, mitochondrial inheritance.
Gene mutations and effects on the protein product. Molecular bases of genetic diseases: molecular genetics of haemoglobinopathies: structure of haemoglobin and globin genes qualitative and quantitative alterations of haemoglobin, cystic fibrosis and more frequent mutations and phenotype genotype correlation, congenital errors of metabolism: phenylketonuria.independent genes and associated genes.
Independent and associated genes. Test cross and association test. Genetic maps.
DNA polymorphisms:RFLPs, minisatellites (VNTR), microsatellites (STR), SNPs, usefulness of DNA polymorphisms in medicine: forensic genetics
Genes in populations: Hardy-Weinberg's law, calculation of allele and genotypic frequencies for two allele systems, calculation of allele and genotypic frequencies for sex-related characters, evolutionary factors: mutation, natural selection, genetic drift, migration
Complex characters: Polygenic characters, multifactorial characters with continuous variability, threshold effect characters, heritability, genomic association studies (GWAS)
· Chromosome theory of inheritance:
- human chromosomes as the vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities of the number and the structure of chromosomes with associated clinical implications. Pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· Genomic disorders: pathogenetic mechanisms underlying the unbalancies formation and the m olecular diagnosis using chromosome arrays approach.
· X chromosome inactivation: mechanisms and relevance of the phenomenon in X-linked genetic diseases.
· Genomic imprinting and uniparental disomies. Pathogenetic mechanisms of examples of imprinting disorders (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Trinucleotide repeat disorders and related pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Cancer genetic predisposition. Main features of the involved genes, and examples of conditions: genetic predisposition to breast and colon cancer conditions.
HUMAN GENETICS:
Human Genome Project. The Human Genome organization: genes and non-coding sequences. Chromosomal bases of inheritance mitosis and meiosis, biological cycles, sexual reproduction. Meiosis as a source of genetic variability. Female and male gametogenesis.
Principles of Mendelian inheritance: genotypic and phenotypic relationships in Mendelian crossbreeds: examples and applications. Interaction between alleles and phenotypic effect: complete, incomplete, co-dominance. Interactions between different genes: epistasis and lethal genes. Pleiotropism. Multiple allele systems in humans: blood groups.
Mendelism in humans: Mendelian and non-mendelian traits classification of genetic diseases, monogenic inheritance and multifactorial inheritance. Genetic analysis in man: construction of family trees: symbology and criteria for the collection of family history, the main types of pedigree Problems of interpretation of family trees: incomplete penetration, variable expressivity, de novo mutations, genetic mosaicism, allelic and locus heterogeneity, mitochondrial inheritance.
Gene mutations and effects on the protein product. Molecular bases of genetic diseases: molecular genetics of haemoglobinopathies: structure of haemoglobin and globin genes qualitative and quantitative alterations of haemoglobin, cystic fibrosis and more frequent mutations and phenotype genotype correlation, congenital errors of metabolism: phenylketonuria.independent genes and associated genes.
Independent and associated genes. Test cross and association test. Genetic maps.
DNA polymorphisms:RFLPs, minisatellites (VNTR), microsatellites (STR), SNPs, usefulness of DNA polymorphisms in medicine: forensic genetics
Genes in populations: Hardy-Weinberg's law, calculation of allele and genotypic frequencies for two allele systems, calculation of allele and genotypic frequencies for sex-related characters, evolutionary factors: mutation, natural selection, genetic drift, migration
Complex characters: Polygenic characters, multifactorial characters with continuous variability, threshold effect characters, heritability, genomic association studies (GWAS)
· Chromosome theory of inheritance:
- human chromosomes as the vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities of the number and the structure of chromosomes with associated clinical implications. Pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· Genomic disorders: pathogenetic mechanisms underlying the unbalancies formation and the m olecular diagnosis using chromosome arrays approach.
· X chromosome inactivation: mechanisms and relevance of the phenomenon in X-linked genetic diseases.
· Genomic imprinting and uniparental disomies. Pathogenetic mechanisms of examples of imprinting disorders (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Trinucleotide repeat disorders and related pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Cancer genetic predisposition. Main features of the involved genes, and examples of conditions: genetic predisposition to breast and colon cancer conditions.
Teaching methods
Lines A-L e M-Z:
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
Teaching Resources
Lines A-L e M-Z:
M. Genuardi, G. Neri
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
M. Genuardi, G. Neri
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 4
Lessons: 48 hours
Professor:
Riva Paola Vanda
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 24 hours
Professor:
Ghezzi Daniele
Linea-M-Z
Responsible
More specific information on the delivery modes of training activities for academic year 2021/22 will be provided over the coming months, based on the evolution of the public health situation.
Prerequisites for admission
No specific pre-requirement is requested for the admission to the course of Biology and Genetics.
Assessment methods and Criteria
At the end of both modules, students will have the opportunity to take a written itinere test. The final mark will be the arithmetic mean of the two marks obtained by the student providing that he/she will have passed both tests. The test will consist of multiple choice questions with 5 possible answers; one or more answers may be correct. The questions will focus on most of the topics covered in class. Those who have not passed both tests will have to take the exam according to regular sessions. For the verification, students will take an oral exam for each module of the entire Biology and Genetics course. The final mark will be calculated on the basis of the weight in CFU of the individual modules.
Experimental biology
Course syllabus
Lines A-L e M-Z:
CELL BIOLOGY:
· The organization of living matter and the structural framework of the cell. Structure and functions of pro- vs. eukaryotic cells. Conservation of developmental programs among different species.
· Experimental models in cell biology. Cell models and organisms for the study of biological phenomena.
· The stem cell and its relevance for studying pathogenesis of diseases. Definition of stemness. Identification of master regulators of stem cell pluripotency. The induced pluripotent stem cell.
· Signal transduction. Cell membrane structure. Nature of intercellular communication and receptors. Second messengers.
· The cell cycle. Cell cycle phases. Regulation of cell cycle by extracellular stimuli. Cell cycle checkpoints. Role and regulation of cyclins.
· Cell death. Differences between necrosis and apoptosis. Milestones in apoptosis research. Roles of apoptosis. Molecular regulation of apoptosis. Caspases. The apoptosome. Extrinsic death pathway.
· Oncogenes and cancer. Classes of oncogenes. Mechanisms of proto-oncogenes activation. Chromosomal alterations and cancer. Multiple mutations in cancer progression. Tumor suppressor genes.
· Synthesis, folding and protein traffic and degradation. The quality control of proteins within the endoplasmic reticulum (ER) lumen. Folding enzymes and chaperons. The ubiquitin/proteasome system and autophagy.
MOLECULAR BIOLOGY:
· Structure of nucleic acids: a quick overview of the main experiments that resulted fundamental for understanding their structure and of the techniques useful for their purification and analysis.
· The structure of proteins and the techniques useful for their purification and analysis.
· Genes and genomes: organization and function.
· Methods in molecular biology: principles and applications.
· Transcription in prokaryotes: molecular mechanisms.
· Transcriptional regulation in prokaryotes and the lactose operon as a paradigm of negative and positive regulation.
· Transcription in eukaryotes: the factors and molecular mechanisms involved.
· RNA processing and its involvement in human health.
· Chromatin structure and DNA topology.
· Epigenetics: DNA methylation in physiological and pathological conditions; the histone code hypothesis and how an aberrant chromatin structure can induce human disorders; non-coding RNAs as regulatory mechanisms of gene expression and their relevance in human health.
· Protein synthesis: its protagonists and the involved molecular mechanisms.
· Main molecular mechanisms by which the genetic information can be preserved: DNA replication and repair.
CELL BIOLOGY:
· The organization of living matter and the structural framework of the cell. Structure and functions of pro- vs. eukaryotic cells. Conservation of developmental programs among different species.
· Experimental models in cell biology. Cell models and organisms for the study of biological phenomena.
· The stem cell and its relevance for studying pathogenesis of diseases. Definition of stemness. Identification of master regulators of stem cell pluripotency. The induced pluripotent stem cell.
· Signal transduction. Cell membrane structure. Nature of intercellular communication and receptors. Second messengers.
· The cell cycle. Cell cycle phases. Regulation of cell cycle by extracellular stimuli. Cell cycle checkpoints. Role and regulation of cyclins.
· Cell death. Differences between necrosis and apoptosis. Milestones in apoptosis research. Roles of apoptosis. Molecular regulation of apoptosis. Caspases. The apoptosome. Extrinsic death pathway.
· Oncogenes and cancer. Classes of oncogenes. Mechanisms of proto-oncogenes activation. Chromosomal alterations and cancer. Multiple mutations in cancer progression. Tumor suppressor genes.
· Synthesis, folding and protein traffic and degradation. The quality control of proteins within the endoplasmic reticulum (ER) lumen. Folding enzymes and chaperons. The ubiquitin/proteasome system and autophagy.
MOLECULAR BIOLOGY:
· Structure of nucleic acids: a quick overview of the main experiments that resulted fundamental for understanding their structure and of the techniques useful for their purification and analysis.
· The structure of proteins and the techniques useful for their purification and analysis.
· Genes and genomes: organization and function.
· Methods in molecular biology: principles and applications.
· Transcription in prokaryotes: molecular mechanisms.
· Transcriptional regulation in prokaryotes and the lactose operon as a paradigm of negative and positive regulation.
· Transcription in eukaryotes: the factors and molecular mechanisms involved.
· RNA processing and its involvement in human health.
· Chromatin structure and DNA topology.
· Epigenetics: DNA methylation in physiological and pathological conditions; the histone code hypothesis and how an aberrant chromatin structure can induce human disorders; non-coding RNAs as regulatory mechanisms of gene expression and their relevance in human health.
· Protein synthesis: its protagonists and the involved molecular mechanisms.
· Main molecular mechanisms by which the genetic information can be preserved: DNA replication and repair.
Teaching methods
Lines A-L e M-Z:
The module consists of frontal lectures. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to critically analyze the results of some experiments or, eventually, 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 and revealed by easy-badge.
Linea M-Z:
In each module, the course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded onto the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
The module consists of frontal lectures. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to critically analyze the results of some experiments or, eventually, 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 and revealed by easy-badge.
Linea M-Z:
In each module, the course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded onto the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
Teaching Resources
Linee A -L- e M-Z:
· B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Roberts, P. Walter
Biologia molecolare della cellula, Zanichelli
· H. Lodish, A. Berk, C.A. Kaiser, M. Krieger, M.P. Scott, A. Bretscher, H. Ploegh, P. Matsudaira
Biologia molecolare della cellula, Zanichelli
· G. Karp
Biologia cellulare e Molecolare Edises
· B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Roberts, P. Walter
Biologia molecolare della cellula, Zanichelli
· H. Lodish, A. Berk, C.A. Kaiser, M. Krieger, M.P. Scott, A. Bretscher, H. Ploegh, P. Matsudaira
Biologia molecolare della cellula, Zanichelli
· G. Karp
Biologia cellulare e Molecolare Edises
Medical genetics
Course syllabus
Lines A-L e M-Z:
HUMAN GENETICS:
Human Genome Project. The Human Genome organization: genes and non-coding sequences. Chromosomal bases of inheritance mitosis and meiosis, biological cycles, sexual reproduction. Meiosis as a source of genetic variability. Female and male gametogenesis.
Principles of Mendelian inheritance: genotypic and phenotypic relationships in Mendelian crossbreeds: examples and applications. Interaction between alleles and phenotypic effect: complete, incomplete, co-dominance. Interactions between different genes: epistasis and lethal genes. Pleiotropism. Multiple allele systems in humans: blood groups.
Mendelism in humans: Mendelian and non-mendelian traits classification of genetic diseases, monogenic inheritance and multifactorial inheritance. Genetic analysis in man: construction of family trees: symbology and criteria for the collection of family history, the main types of pedigree Problems of interpretation of family trees: incomplete penetration, variable expressivity, de novo mutations, genetic mosaicism, allelic and locus heterogeneity, mitochondrial inheritance.
Gene mutations and effects on the protein product. Molecular bases of genetic diseases: molecular genetics of haemoglobinopathies: structure of haemoglobin and globin genes qualitative and quantitative alterations of haemoglobin, cystic fibrosis and more frequent mutations and phenotype genotype correlation, congenital errors of metabolism: phenylketonuria.independent genes and associated genes.
Independent and associated genes. Test cross and association test. Genetic maps.
DNA polymorphisms:RFLPs, minisatellites (VNTR), microsatellites (STR), SNPs, usefulness of DNA polymorphisms in medicine: forensic genetics
Genes in populations: Hardy-Weinberg's law, calculation of allele and genotypic frequencies for two allele systems, calculation of allele and genotypic frequencies for sex-related characters, evolutionary factors: mutation, natural selection, genetic drift, migration
Complex characters: Polygenic characters, multifactorial characters with continuous variability, threshold effect characters, heritability, genomic association studies (GWAS)
· Chromosome theory of inheritance:
- human chromosomes as the vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities of the number and the structure of chromosomes with associated clinical implications. Pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· Genomic disorders: pathogenetic mechanisms underlying the unbalancies formation and the m olecular diagnosis using chromosome arrays approach.
· X chromosome inactivation: mechanisms and relevance of the phenomenon in X-linked genetic diseases.
· Genomic imprinting and uniparental disomies. Pathogenetic mechanisms of examples of imprinting disorders (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Trinucleotide repeat disorders and related pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Cancer genetic predisposition. Main features of the involved genes, and examples of conditions: genetic predisposition to breast and colon cancer conditions.
HUMAN GENETICS:
Human Genome Project. The Human Genome organization: genes and non-coding sequences. Chromosomal bases of inheritance mitosis and meiosis, biological cycles, sexual reproduction. Meiosis as a source of genetic variability. Female and male gametogenesis.
Principles of Mendelian inheritance: genotypic and phenotypic relationships in Mendelian crossbreeds: examples and applications. Interaction between alleles and phenotypic effect: complete, incomplete, co-dominance. Interactions between different genes: epistasis and lethal genes. Pleiotropism. Multiple allele systems in humans: blood groups.
Mendelism in humans: Mendelian and non-mendelian traits classification of genetic diseases, monogenic inheritance and multifactorial inheritance. Genetic analysis in man: construction of family trees: symbology and criteria for the collection of family history, the main types of pedigree Problems of interpretation of family trees: incomplete penetration, variable expressivity, de novo mutations, genetic mosaicism, allelic and locus heterogeneity, mitochondrial inheritance.
Gene mutations and effects on the protein product. Molecular bases of genetic diseases: molecular genetics of haemoglobinopathies: structure of haemoglobin and globin genes qualitative and quantitative alterations of haemoglobin, cystic fibrosis and more frequent mutations and phenotype genotype correlation, congenital errors of metabolism: phenylketonuria.independent genes and associated genes.
Independent and associated genes. Test cross and association test. Genetic maps.
DNA polymorphisms:RFLPs, minisatellites (VNTR), microsatellites (STR), SNPs, usefulness of DNA polymorphisms in medicine: forensic genetics
Genes in populations: Hardy-Weinberg's law, calculation of allele and genotypic frequencies for two allele systems, calculation of allele and genotypic frequencies for sex-related characters, evolutionary factors: mutation, natural selection, genetic drift, migration
Complex characters: Polygenic characters, multifactorial characters with continuous variability, threshold effect characters, heritability, genomic association studies (GWAS)
· Chromosome theory of inheritance:
- human chromosomes as the vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities of the number and the structure of chromosomes with associated clinical implications. Pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· Genomic disorders: pathogenetic mechanisms underlying the unbalancies formation and the m olecular diagnosis using chromosome arrays approach.
· X chromosome inactivation: mechanisms and relevance of the phenomenon in X-linked genetic diseases.
· Genomic imprinting and uniparental disomies. Pathogenetic mechanisms of examples of imprinting disorders (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Trinucleotide repeat disorders and related pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Cancer genetic predisposition. Main features of the involved genes, and examples of conditions: genetic predisposition to breast and colon cancer conditions.
Teaching methods
Lines A-L e M-Z:
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
Teaching Resources
Lines A-L e M-Z:
M. Genuardi, G. Neri
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
M. Genuardi, G. Neri
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 4
Lessons: 48 hours
Professor:
Marozzi Anna
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 24 hours
Professor:
Finelli Palma
Linea: San Donato
Responsible
More specific information on the delivery modes of training activities for academic year 2021/22 will be provided over the coming months, based on the evolution of the public health situation.
Prerequisites for admission
No specific pre-requirement is requested for the admission to the course of Biology and Genetics.
Assessment methods and Criteria
At the end of both modules, students will have the opportunity to take a written itinere test. The final mark will be the arithmetic mean of the two marks obtained by the student providing that he/she will have passed both tests. The test will consist of multiple choice questions with 5 possible answers; one or more answers may be correct. The questions will focus on most of the topics covered in class. Those who have not passed both tests will have to take the exam according to regular sessions. For the verification, students will take an oral exam for each module of the entire Biology and Genetics course. The final mark will be calculated on the basis of the weight in CFU of the individual modules.
Experimental biology
Course syllabus
Lines A-L e M-Z:
CELL BIOLOGY:
· The organization of living matter and the structural framework of the cell. Structure and functions of pro- vs. eukaryotic cells. Conservation of developmental programs among different species.
· Experimental models in cell biology. Cell models and organisms for the study of biological phenomena.
· The stem cell and its relevance for studying pathogenesis of diseases. Definition of stemness. Identification of master regulators of stem cell pluripotency. The induced pluripotent stem cell.
· Signal transduction. Cell membrane structure. Nature of intercellular communication and receptors. Second messengers.
· The cell cycle. Cell cycle phases. Regulation of cell cycle by extracellular stimuli. Cell cycle checkpoints. Role and regulation of cyclins.
· Cell death. Differences between necrosis and apoptosis. Milestones in apoptosis research. Roles of apoptosis. Molecular regulation of apoptosis. Caspases. The apoptosome. Extrinsic death pathway.
· Oncogenes and cancer. Classes of oncogenes. Mechanisms of proto-oncogenes activation. Chromosomal alterations and cancer. Multiple mutations in cancer progression. Tumor suppressor genes.
· Synthesis, folding and protein traffic and degradation. The quality control of proteins within the endoplasmic reticulum (ER) lumen. Folding enzymes and chaperons. The ubiquitin/proteasome system and autophagy.
MOLECULAR BIOLOGY:
· Structure of nucleic acids: a quick overview of the main experiments that resulted fundamental for understanding their structure and of the techniques useful for their purification and analysis.
· The structure of proteins and the techniques useful for their purification and analysis.
· Genes and genomes: organization and function.
· Methods in molecular biology: principles and applications.
· Transcription in prokaryotes: molecular mechanisms.
· Transcriptional regulation in prokaryotes and the lactose operon as a paradigm of negative and positive regulation.
· Transcription in eukaryotes: the factors and molecular mechanisms involved.
· RNA processing and its involvement in human health.
· Chromatin structure and DNA topology.
· Epigenetics: DNA methylation in physiological and pathological conditions; the histone code hypothesis and how an aberrant chromatin structure can induce human disorders; non-coding RNAs as regulatory mechanisms of gene expression and their relevance in human health.
· Protein synthesis: its protagonists and the involved molecular mechanisms.
· Main molecular mechanisms by which the genetic information can be preserved: DNA replication and repair.
CELL BIOLOGY:
· The organization of living matter and the structural framework of the cell. Structure and functions of pro- vs. eukaryotic cells. Conservation of developmental programs among different species.
· Experimental models in cell biology. Cell models and organisms for the study of biological phenomena.
· The stem cell and its relevance for studying pathogenesis of diseases. Definition of stemness. Identification of master regulators of stem cell pluripotency. The induced pluripotent stem cell.
· Signal transduction. Cell membrane structure. Nature of intercellular communication and receptors. Second messengers.
· The cell cycle. Cell cycle phases. Regulation of cell cycle by extracellular stimuli. Cell cycle checkpoints. Role and regulation of cyclins.
· Cell death. Differences between necrosis and apoptosis. Milestones in apoptosis research. Roles of apoptosis. Molecular regulation of apoptosis. Caspases. The apoptosome. Extrinsic death pathway.
· Oncogenes and cancer. Classes of oncogenes. Mechanisms of proto-oncogenes activation. Chromosomal alterations and cancer. Multiple mutations in cancer progression. Tumor suppressor genes.
· Synthesis, folding and protein traffic and degradation. The quality control of proteins within the endoplasmic reticulum (ER) lumen. Folding enzymes and chaperons. The ubiquitin/proteasome system and autophagy.
MOLECULAR BIOLOGY:
· Structure of nucleic acids: a quick overview of the main experiments that resulted fundamental for understanding their structure and of the techniques useful for their purification and analysis.
· The structure of proteins and the techniques useful for their purification and analysis.
· Genes and genomes: organization and function.
· Methods in molecular biology: principles and applications.
· Transcription in prokaryotes: molecular mechanisms.
· Transcriptional regulation in prokaryotes and the lactose operon as a paradigm of negative and positive regulation.
· Transcription in eukaryotes: the factors and molecular mechanisms involved.
· RNA processing and its involvement in human health.
· Chromatin structure and DNA topology.
· Epigenetics: DNA methylation in physiological and pathological conditions; the histone code hypothesis and how an aberrant chromatin structure can induce human disorders; non-coding RNAs as regulatory mechanisms of gene expression and their relevance in human health.
· Protein synthesis: its protagonists and the involved molecular mechanisms.
· Main molecular mechanisms by which the genetic information can be preserved: DNA replication and repair.
Teaching methods
Lines A-L e M-Z:
The module consists of frontal lectures. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to critically analyze the results of some experiments or, eventually, 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 and revealed by easy-badge.
Linea M-Z:
In each module, the course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded onto the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
The module consists of frontal lectures. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to critically analyze the results of some experiments or, eventually, 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 and revealed by easy-badge.
Linea M-Z:
In each module, the course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded onto the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
Teaching Resources
Linee A -L- e M-Z:
· B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Roberts, P. Walter
Biologia molecolare della cellula, Zanichelli
· H. Lodish, A. Berk, C.A. Kaiser, M. Krieger, M.P. Scott, A. Bretscher, H. Ploegh, P. Matsudaira
Biologia molecolare della cellula, Zanichelli
· G. Karp
Biologia cellulare e Molecolare Edises
· B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Roberts, P. Walter
Biologia molecolare della cellula, Zanichelli
· H. Lodish, A. Berk, C.A. Kaiser, M. Krieger, M.P. Scott, A. Bretscher, H. Ploegh, P. Matsudaira
Biologia molecolare della cellula, Zanichelli
· G. Karp
Biologia cellulare e Molecolare Edises
Medical genetics
Course syllabus
Lines A-L e M-Z:
HUMAN GENETICS:
Human Genome Project. The Human Genome organization: genes and non-coding sequences. Chromosomal bases of inheritance mitosis and meiosis, biological cycles, sexual reproduction. Meiosis as a source of genetic variability. Female and male gametogenesis.
Principles of Mendelian inheritance: genotypic and phenotypic relationships in Mendelian crossbreeds: examples and applications. Interaction between alleles and phenotypic effect: complete, incomplete, co-dominance. Interactions between different genes: epistasis and lethal genes. Pleiotropism. Multiple allele systems in humans: blood groups.
Mendelism in humans: Mendelian and non-mendelian traits classification of genetic diseases, monogenic inheritance and multifactorial inheritance. Genetic analysis in man: construction of family trees: symbology and criteria for the collection of family history, the main types of pedigree Problems of interpretation of family trees: incomplete penetration, variable expressivity, de novo mutations, genetic mosaicism, allelic and locus heterogeneity, mitochondrial inheritance.
Gene mutations and effects on the protein product. Molecular bases of genetic diseases: molecular genetics of haemoglobinopathies: structure of haemoglobin and globin genes qualitative and quantitative alterations of haemoglobin, cystic fibrosis and more frequent mutations and phenotype genotype correlation, congenital errors of metabolism: phenylketonuria.independent genes and associated genes.
Independent and associated genes. Test cross and association test. Genetic maps.
DNA polymorphisms:RFLPs, minisatellites (VNTR), microsatellites (STR), SNPs, usefulness of DNA polymorphisms in medicine: forensic genetics
Genes in populations: Hardy-Weinberg's law, calculation of allele and genotypic frequencies for two allele systems, calculation of allele and genotypic frequencies for sex-related characters, evolutionary factors: mutation, natural selection, genetic drift, migration
Complex characters: Polygenic characters, multifactorial characters with continuous variability, threshold effect characters, heritability, genomic association studies (GWAS)
· Chromosome theory of inheritance:
- human chromosomes as the vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities of the number and the structure of chromosomes with associated clinical implications. Pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· Genomic disorders: pathogenetic mechanisms underlying the unbalancies formation and the m olecular diagnosis using chromosome arrays approach.
· X chromosome inactivation: mechanisms and relevance of the phenomenon in X-linked genetic diseases.
· Genomic imprinting and uniparental disomies. Pathogenetic mechanisms of examples of imprinting disorders (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Trinucleotide repeat disorders and related pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Cancer genetic predisposition. Main features of the involved genes, and examples of conditions: genetic predisposition to breast and colon cancer conditions.
HUMAN GENETICS:
Human Genome Project. The Human Genome organization: genes and non-coding sequences. Chromosomal bases of inheritance mitosis and meiosis, biological cycles, sexual reproduction. Meiosis as a source of genetic variability. Female and male gametogenesis.
Principles of Mendelian inheritance: genotypic and phenotypic relationships in Mendelian crossbreeds: examples and applications. Interaction between alleles and phenotypic effect: complete, incomplete, co-dominance. Interactions between different genes: epistasis and lethal genes. Pleiotropism. Multiple allele systems in humans: blood groups.
Mendelism in humans: Mendelian and non-mendelian traits classification of genetic diseases, monogenic inheritance and multifactorial inheritance. Genetic analysis in man: construction of family trees: symbology and criteria for the collection of family history, the main types of pedigree Problems of interpretation of family trees: incomplete penetration, variable expressivity, de novo mutations, genetic mosaicism, allelic and locus heterogeneity, mitochondrial inheritance.
Gene mutations and effects on the protein product. Molecular bases of genetic diseases: molecular genetics of haemoglobinopathies: structure of haemoglobin and globin genes qualitative and quantitative alterations of haemoglobin, cystic fibrosis and more frequent mutations and phenotype genotype correlation, congenital errors of metabolism: phenylketonuria.independent genes and associated genes.
Independent and associated genes. Test cross and association test. Genetic maps.
DNA polymorphisms:RFLPs, minisatellites (VNTR), microsatellites (STR), SNPs, usefulness of DNA polymorphisms in medicine: forensic genetics
Genes in populations: Hardy-Weinberg's law, calculation of allele and genotypic frequencies for two allele systems, calculation of allele and genotypic frequencies for sex-related characters, evolutionary factors: mutation, natural selection, genetic drift, migration
Complex characters: Polygenic characters, multifactorial characters with continuous variability, threshold effect characters, heritability, genomic association studies (GWAS)
· Chromosome theory of inheritance:
- human chromosomes as the vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities of the number and the structure of chromosomes with associated clinical implications. Pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· Genomic disorders: pathogenetic mechanisms underlying the unbalancies formation and the m olecular diagnosis using chromosome arrays approach.
· X chromosome inactivation: mechanisms and relevance of the phenomenon in X-linked genetic diseases.
· Genomic imprinting and uniparental disomies. Pathogenetic mechanisms of examples of imprinting disorders (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Trinucleotide repeat disorders and related pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Cancer genetic predisposition. Main features of the involved genes, and examples of conditions: genetic predisposition to breast and colon cancer conditions.
Teaching methods
Lines A-L e M-Z:
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Attendance of teaching is mandatory and revealed by easy-badge.
Teaching Resources
Lines A-L e M-Z:
M. Genuardi, G. Neri
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
M. Genuardi, G. Neri
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 4
Lessons: 48 hours
Professor:
Rusconi Francesco Sebastiano
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 24 hours
Professor:
Alcalay Myriam
Professor(s)
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)