Catalogo dei Corsi di studio

BIOLOGY AND GENETICS
Learning outcomes
-Understanding and using of the experimental methods in scientific research.
-Acquisition of a general and integrated vision of the various cell compartment in terms of structure and function, of the molecular bases of this and of the control mechanisms.
-Knowledge of the molecular basis of the cell/cell and cell/extracellular environment crosstalk, understanding of how the cell is able to respond to different environmental stimuli in metabolic, differentiative, proliferative, apoptotic terms.
- Knowledge of the methods of transmission and expression of genetic information.
-Understanding of the etiopathology of the diseases of which the altered molecular mechanism (or the genetic basis) has been described and capacity to associate the alterations of biological mechanisms to as many pathological phenotypes.
- Capacity to solve simple problems of medical genetics in terms of transmission of hereditary characters and calculation of probability of phenotypic expression in the progeny.
- Acquisition of a critical judgment capacity on the technologies of manipulation and study of DNA and on the main biotechnological tools in order to solve diagnostic and therapeutic problems.

Learning outcomes BIOLOGY (I):
Knowledge and understanding of the correlation between structure and function of biological macro-molecules, in particular of proteins and nucleic acids.
Knowledge of the mechanisms controlling the acquisition of protein functional conformations and understanding of the pathological implication of their dysfunction.
Knowledge of the molecular mechanism of DNA replication and of mutagenesis.
Understanding the pathological implication of the DNA repair mechanisms impairment.

Obiettivi:
Conoscere e comprendere le caratteristiche del materiale genetico e le regole della sua trasmissione.
Conoscere la genetica mendeliana e le basi cromosomiche dell’ereditarietà.
Identificare le giuste procedure per risolvere semplici problemi di genetica e di formulare ipotesi sulle modalità di trasmissione di determinati caratteri in termini di dominanza e recessività.
Comprendere le potenzialità ed i limiti delle nuove tecnologie di manipolazione del DNA e quelle correlate alle scienze –omiche (in particolare genomica, trascrittomica e proteomica).

Learning outcomes GENETICS (I):
Knowledge and understanding of the characteristics of the genetic material and of its transmission.
Knowledge of the mendelian genetics and the chromosomal basis of inheritance.
Ability to identify the right procedures to solve simple genetic problems and to formulate hypothesis on the genetic transmision, in terms of dominance and recessivity.
Understanding of the potentiality and limits of the new DNA technologies and of the -omic sciences (in particular genomics, transcriptomics and proteomics).

Describe the principles that regulate the transmission of Mendelian disorders in humans
Describe the phenomena that complicate the transmission of Mendelian disorders in humans
Recognize the mode of inheritance of Mendelian disorders in human pedigrees
Calculate simple recurrence risk for Mendelian disorders in human pedigrees

BIOLOGY (II)
Learning outcomes:
Knowledge and understanding of molecular mechanisms controlling the informational flux in eukaryotic cells, from the transcription to the translation and posttraslational events.
Knowledge and understanding of the structure and integrated functions of eucaryotic cell compartments (from plasmacellular membrane to cytoscheleton, nuclear membrane and endomembranes).
Knowledge of the molecula mechanisms controlling cell cycle, cell death and cell differentiation.
Acquisition of the concepts of protooncogene, oncogene and oncosuppressor gene.
Knowledge of the main molecular cell signalings trasducing several extracellular stimuli.

GENETICS (II)
Learning outcomes:
Acquiring of capacity of critical judgment on the formal genetics, through the study of the evolution of the concepts of gene, epistasis and epigenetics.
Knowledge of gene, genome and chromosomal mutations and related human diseases
Knowledge of the cancer genetics and capacity to identify theraputic targets.

Learning outcomes:
Define the major principles of population genetics including Hardy-Weinberg equilibrium
Understand the effect of consanguineity on risk of genetic disorders
Describe the major approaches from genetic epidemiology to identify the presence of genetic risk factors for complex disorders
Describe the main approaches for gene identification in Mendelian disorders
Describe the rationale for GWAS and the major results obtained in understanding the genetic bases of complex disorders

Programme

BIOLOGY and GENETICS I (APPLIED BIOLOGY - Prof. L. AMICONE/ Prof. M. TRIPODI)
Introduction to the cell biology with notes on the origin of life
General information on the prokaryotic and eukaryotic cells
The biological macromolecules
Protein, structure and function
Mechanisms of "protein folding" and "misfolding" diseases
Nucleic acids, structure and function
DNA replication, mutational events and repair mechanisms
Malfunctioning of DNA damage repair mechanisms and human diseases
Mendel’s Experiments and Laws
Genotype and phenotype
Chromosomal bases of heredity
Mitosis and meiosis
Genetic association and independence. Crossing-over
Recombinant DNA technology. Sanger sequencing and Next Generation Sequencing. Transcriptomics and proteomics analysis techniques

BIOLOGY and GENETICS I (MEDICAL GENETICS – Prof. M. DEVOTO)
Mendelian inheritance in man and its exceptions
Autosomal recessive and dominant, X-linked
Imprinting, genetic heterogeneity, reduced penetrance, variable expressivity
Recurrence risk for Mendelian traits in human pedigrees

BIOLOGY and GENETICS II (APPLIED BIOLOGY - Prof. L. AMICONE/ Prof. M. TRIPODI)
The flow of the genetic information: The transcription in prokaryotic cells. The eukaryotic gene. Transcription in eukaryotic cells. The genetic code. The translation in prokaryotic cells. The translation in eukaryotic cells.
Control of gene expression in eukaryotes.
Biological membranes and the plasma membrane, structure.
Transport mechanisms through the membranes.
The cytoskeleton.
The membranous organelles, vesicular traffic and sorting of proteins.
The nucleus.
Mitochondria and energy metabolism.
Cell comunications and extracellular signal transduction pathways.
Cell cycle and molecular bases of its control.
Apoptosis.
Extentions of mendelian genetic inheritance (epistasis).
Sex linkage.
Gene regulation in procaryotes.
Genic, genomic and chromosomal mutations.
Cancer genetics.

BIOLOGY and GENETICS I (MEDICAL GENETICS – Prof. M. DEVOTO)
Basic principles of population genetics
Allelic and genotype frequencies
Hardy-Weinberg equilibrium
Consanguinity
Linkage disequilibrium
Complex genetic traits and genetic epidemiology
Multifactorial inheritance, threshold model of disease liability
Twin and adoption studies, recurrence risk ratios
Association studies
Genome-wide association studies (GWAS) of complex traits

Adopted texts

G. Karp, Biologia cellulare e molecolare. Concetti e esperimenti. Ed. EDISES
B. Alberts, L’Essenziale di Biologia Molecolare della cellula. Ed. Zanichelli
Peter J. Russell, Genetica, un approccio molecolare. Ed. Pearson
G. Neri, M. Genuardi, Genetica umana e medica, Elsevier
Nussabaum, McInnes, Willard: Thomson & Thomson - Genetics in Medicine, Elsevier

Exam modes

Written test and oral exam

Programme

BIOLOGY and GENETICS I (APPLIED BIOLOGY - Prof. L. AMICONE/ Prof. M. TRIPODI)
Introduction to the cell biology with notes on the origin of life
General information on the prokaryotic and eukaryotic cells
The biological macromolecules
Protein, structure and function
Mechanisms of "protein folding" and "misfolding" diseases
Nucleic acids, structure and function
DNA replication, mutational events and repair mechanisms
Malfunctioning of DNA damage repair mechanisms and human diseases
Mendel’s Experiments and Laws
Genotype and phenotype
Chromosomal bases of heredity
Mitosis and meiosis
Genetic association and independence. Crossing-over
Recombinant DNA technology. Sanger sequencing and Next Generation Sequencing. Transcriptomics and proteomics analysis techniques

BIOLOGY and GENETICS I (MEDICAL GENETICS – Prof. M. DEVOTO)
Mendelian inheritance in man and its exceptions
Autosomal recessive and dominant, X-linked
Imprinting, genetic heterogeneity, reduced penetrance, variable expressivity
Recurrence risk for Mendelian traits in human pedigrees

BIOLOGY and GENETICS II (APPLIED BIOLOGY - Prof. L. AMICONE/ Prof. M. TRIPODI)
The flow of the genetic information: The transcription in prokaryotic cells. The eukaryotic gene. Transcription in eukaryotic cells. The genetic code. The translation in prokaryotic cells. The translation in eukaryotic cells.
Control of gene expression in eukaryotes.
Biological membranes and the plasma membrane, structure.
Transport mechanisms through the membranes.
The cytoskeleton.
The membranous organelles, vesicular traffic and sorting of proteins.
The nucleus.
Mitochondria and energy metabolism.
Cell comunications and extracellular signal transduction pathways.
Cell cycle and molecular bases of its control.
Apoptosis.
Extentions of mendelian genetic inheritance (epistasis).
Sex linkage.
Gene regulation in procaryotes.
Genic, genomic and chromosomal mutations.
Cancer genetics.

BIOLOGY and GENETICS I (MEDICAL GENETICS – Prof. M. DEVOTO)
Basic principles of population genetics
Allelic and genotype frequencies
Hardy-Weinberg equilibrium
Consanguinity
Linkage disequilibrium
Complex genetic traits and genetic epidemiology
Multifactorial inheritance, threshold model of disease liability
Twin and adoption studies, recurrence risk ratios
Association studies
Genome-wide association studies (GWAS) of complex traits

Adopted texts

G. Karp, Cellular and Molecular Biology. Concepts and Experimets. Ed. EDISES
B. Alberts, Essential Cell Biology. Ed. EDISES
Peter J. Russell, iGenetics, a molecular approach. Ed. Pearson
G. Neri, M. Genuardi, Genetica umana e medica, Elsevier
Nussabaum, McInnes, Willard: Thomson & Thomson - Genetics in Medicine, Elsevier

Prerequisites

Basic knowledge of chemistry and cellular biology

Exam modes

Written test and oral exam