Medicine and Surgery "G"

Module 1: BIOLOGY AND GENETICS I - APPLIED BIOLOGY

Activity type: B_01. Discipline generali per la formazione del medico
SSD: BIO/13
Year: 1st year
Semester: 1st semester
CFU: 4
Hours distribution: 52 classroom hours
Lecturers: RAFFAELE STRIPPOLI
MARCO TRIPODI

Module 2: BIOLOGY AND GENETICS I - MEDICAL GENETICS

Activity type: B_01. Discipline generali per la formazione del medico
SSD: MED/03
Year: 1st year
Semester: 1st semester
CFU: 1
Hours distribution: 13 classroom hours
Lecturers: ANTONIO PIZZUTI

Module 3: BIOLOGY AND GENETICS II - APPLIED BIOLOGY

Activity type: B_01. Discipline generali per la formazione del medico
SSD: BIO/13
Year: 1st year
Semester: 2nd semester
CFU: 4
Hours distribution: 52 classroom hours
Lecturers: RAFFAELE STRIPPOLI
MARCO TRIPODI

Module 4: BIOLOGY AND GENETICS II - MEDICAL GENETICS

Activity type: C_19. Formazione clinica interdisciplinare e medicina basata sulle evidenze e medicina di precisione
SSD: MED/03
Year: 1st year
Semester: 2nd semester
CFU: 1
Hours distribution: 13 classroom hours
Lecturers: VIVIANA CAPUTO

Objectives

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

Learning outcomes

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
genetic bases of human diseases

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
KNOWLEDGE AND UNDERSTANDING CAPACITY: Acquisition of theoretical and practical knowledge in the fields of biochemistry, biology, and medical genetics, with a specific focus on biologically relevant topics.
ABILITY TO APPLY KNOWLEDGE AND UNDERSTANDING: Enhancement of skills in applying theoretical knowledge in the fields of biochemistry, biology, and medical genetics to solve exercises and problems, with a specific emphasis on biologically relevant issues.
AUTONOMY OF JUDGMENT: Acquisition of competence in using independent judgment to assess and interpret experimental data and make strategic decisions in novel contexts.
COMMUNICATION SKILLS: Acquisition of skills and tools for effective communication, both in written and oral forms in the Italian language, including the use of graphical and formal languages.
LEARNING SKILLS: Development of autonomous skills in acquiring knowledge and self-assessing one's progress, thereby preparing for the subsequent educational journey with a high level of independence.

Prerequisites

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS

bases of cellular biology

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
Basic knowledge of human genetics.

Programme

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
Formal characteristics of Mendelian diseases Mitochondrial genetics Cytogenetics principles and methods Multifactorial diseases Epigenetics Genetic testing

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
Methods to study DNA: Sanger sequencing and Next Generation sequencing, cytogenetics, and molecular cytogenomics.
Approaches to study monogenic and complex diseases.
Mitochondrial diseases: features and examples. Diagnosis of mitochondrial diseases.
Genetic tests. Prenatal and post-natal genetic tests.
Genetic counseling: indications, aims, and methods.

Books

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
Genetica e biologia molecolare
Piccin-Nuova Libraria

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
Genetica umana e medica, Neri-Genuardi, Editore: Edra Masson
Genetica in Medicina, Thompson and Thompson, Editore: EdiSES
Genetica e genomica, Strachan-Goodship-Chinnery, Editore: Zanichelli

Bibliography

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
N/D
Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
N/D

Lessons mode

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
The student will acquire basic knowledge in the field of medical genetics with particular attention to the pathogenetic mechanisms underlying the various genetic diseases (hereditary and acquired) and their transmission according to Mendel's laws

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
The course is structured into 12.5 hours of educational activities, including theoretical lessons on the program's topics. A portion of each lesson is dedicated to solving genetics problems and questions.

Frequency

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
in person

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
The course takes place in the classroom through face-to-face lectures.

Exam mode

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
Multiple choice

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
The exam in Medical Genetics will be a written exam, with multiple-choice and open-ended quizzes on the whole program, and, an oral exam. During the exam, the theoretical knowledge, the ability to use theoretical knowledge to solve practical problems, and proper scientific language will be evaluated.

Example exam questions

Module: BIOLOGY AND GENETICS I - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS I - MEDICAL GENETICS
1. Among the following anomalies, which one cannot be identified by genome sequencing
a) Nonsense variant in the coding sequence of a gene
b) Copy Number Variants (microdeletions and microduplications)
c) Splicing mutation
d) Robertsonian translocation
e) Uniparental disomy of a chromosome (Loss of Heterozygosis)

2. THE risk for multifactorial pathologies is said
a) empirical
b) simple Mendelian
c) compound Mendelian
d multifactorial
e) genomic

Module: BIOLOGY AND GENETICS II - APPLIED BIOLOGY
N/D
Module: BIOLOGY AND GENETICS II - MEDICAL GENETICS
Sanger sequencing and Next-Generation sequencing: methods and applications. Cytogenetics and molecular cytogenomics: methods and applications. Main approaches to study genetic diseases. Mitochondrial diseases: features and diagnosis. Genetic tests in the prenatal and post-natal period. Genetic counseling: indications, aims, and methods.

Arguments