Medicine and Surgery

Activity type

B_01. Discipline generali per la formazione del medico

SSD

BIO/13

Year

1st year

Semester

1st semester

CFU

4

Hours distribution

50 classroom hours

Lecturers

CECILIA BATTISTELLI

Activity type

C_19. Formazione clinica interdisciplinare e medicina basata sulle evidenze e medicina di precisione, Tirocini formativi e di orientamento

SSD

MED/03, MED/03

Year

1st year

Semester

2nd semester

CFU

2

Hours distribution

12.5 classroom hours, 25 others hours

Lecturers

MARCELLA DEVOTO
LUCIA STEFANINI

Activity type

B_01. Discipline generali per la formazione del medico

SSD

BIO/13

Year

1st year

Semester

2nd semester

CFU

6

Hours distribution

75 classroom hours

Lecturers

LUCIA STEFANINI

Activity type

C_19. Formazione clinica interdisciplinare e medicina basata sulle evidenze e medicina di precisione

SSD

MED/03

Year

1st year

Semester

1st semester

CFU

1

Hours distribution

12.5 classroom hours

Lecturers

VALENTINA SILVESTRI

The aim of the course is to give students the tools to be familiar with structure and function of the principal components of the cell; to understand the molecular basis of cellular functions; to be aware of how the alteration of cellular functions can bring about pathological states. Students will learn how the genetic information flows from DNA to RNA and proteins and how traits are inherited from one generation to the other. Concepts of classical and molecular genetics will be taught. The students will learn the main principles and application of genomic science, including the most common approaches to Mendelian and complex disease gene identification.
To know how to formulate a medical problem in biological and genetic terms.

BIO/13
Learning outcomes
By the end of the course the student should be able to:
• Describe the function and the composition of the plasma membrane.
• Understand why most cells are small in size.
• Describe structure and functions of membrane proteins.
• Understand the importance of selective permeability in biological systems.
• Differentiate among diffusion, facilitated diffusion, osmosis, and active transport.
• Understand the importance of coupled channels, cotransport, and countertransport.
• Explain and give examples of endocytosis, phagocytosis, pinocytosis, receptor-mediated endocytosis, and exocytosis.
• Differentiate between rough and smooth endoplasmic reticulum both in structure and function.
• Understand how the endoplasmic reticulum and Golgi apparatus interact with one another and know with which other organelles they are associated.
• Identify the three primary components of the cell’s cytoskeleton and how they affect cell shape, function, and movement.
• Understand the value of ATP in biological metabolic reactions.
• Describe two ways in which cells generate ATP and indicate which is the more efficient process.
• Describe the nucleus and its components and explain its role in the regulation of cell functions.
• Describe the molecular composition of eukaryotic chromosomes.
• Understand the differences between heterochromatin and euchromatin.
• Define signal transduction pathways.
• Differentiate between intracellular receptors and cell surface receptors in terms of function.
• Know the three cell surface receptor superfamilies, the basic structures of each and how each functions to convert an extracellular signal to an internal one.
• Understand how cAMP and calcium function as second messengers and why they are necessary.
• Explain the amplification process associated with protein kinase cascades.
• Outline the stages in the cell cycle, including interphase (G1, S, G2), mitosis and cytokinesis
• Describe the molecular mechanisms regulating and controlling cell division and the cell cycle
• Exemplify how extracellular signals affect cell division and how cyclin-dependent kinases and cyclins control the cell cycle normally and in cancer.
• Describe the process of Apoptosis. Outline the physiological role of apoptosis during development and homeostasis maintenance.

MED/03
Learning outcomes:
By the end of the course the student should be able to:
• Describe the Human Genome Project and subsequent international projects such as HapMap and TCGA
• Describe the use of microarrays and high-throughput sequencing
• Describe the molecular diagnostics of Mendelian diseases
• Describe the effects of somatic mutations and oncological genetics
• Describe the main approaches for gene mapping of Mendelian disorders
• 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 rationale for GWAS and the major results obtained in understanding the genetic bases of complex disorders

Understanding of the basic principles of cell and molecular biology.

High school-level biology and chemistry (especially familiarity with the fundamental aspects of chemical structure).

Biology 1:
Introduction to the study of cell biology: diversity and similarity of living organisms. Biology and the
scientific method. The origin and evolution of cells. Cells as experimental models. Tools for studying cells.
The chemistry of the cell: The molecular components of a cell, structure and functions: water, lipids,
membranes, carbohydrates, amino acids, proteins. The use of energy by cells, biological reactions and
enzymes. Nucleic acids. Flow of genetic information. DNA replication. The organisation of DNA in the cell.
Chromosomal DNA and its compaction into the chromatin fibre. DNA polymerases, the origin of replication,
telomerases. Transcription: from DNA to RNA. Transcription in prokaryotes. Transcription and RNA
maturation in eukaryotes. Messenger RNA, ribosomal RNA, transfer RNA. Regulation of gene expression.
Control of transcription in prokaryotes. Inducible and repressible operons. Control of transcription in
eukaryotes. Role of chromatin in the regulation of transcription. Post-transcriptional and traditional
regulation. Translation: from RNA to protein. The genetic code. Structure and function of the ribosome.
Translation: initiation elongation and termination. Destination of proteins to different cellular
compartments. Post-translational modifications of proteins. Translational and post-translational regulation.

Biology 2:
Cell Structures and Function.
The Cell Surface: Structure of the Plasma Membrane, Transport of Small Molecules.
Protein Sorting and Transport - The Endoplasmic Reticulum, Golgi Apparatus, Lysosomes.
The mechanism of Vesicular Transport (receptor mediated endocytosis).
The Cytoskeleton and cell junctions.
Nucleus: The Nuclear Envelope, Traffic between the Nucleus and Cytoplasm, the Nucleolus.
Bioenergetics and Metabolism - Mitochondria, structure and function.
Glycolysis, the Mechanism of Oxidative Phosphorylation.
Peroxisomes.
Cell regulation.
Cell Signaling: Signaling Molecules and Their Receptors, Functions of Cell Surface Receptors.
Pathways of Intracellular Signal Transduction
Regulation of Programmed Cell Death.
The Cell Cycle: The Eukaryotic Cell Cycle, Regulators of Cell Cycle Progression, Mitosis.
Cancer: The Development and Causes of Cancer, Tumor Viruses, Oncogenes.
Tumor Suppressor Genes.

Genetics 1:
Contents:
Structure and functions of genes and human genome
● DNA, RNA, non-coding RNA, pseudo-genes
● Anatomy of the human genome
Variation in the human genome and molecular analysis of nucleic acids
● Mutations, polymorphisms, SNP, VNTR, repetitive DNA, CNV, LOH
● Nucleic acids extraction
● Restriction enzymes, electrophoresis and hybridization
● Southern and Northern blotting
● PCR, RT-PCR, TaqMan, ASO, ARMS, OLA, SSCP, DHPLC, MLPA
● Sanger sequencing
Human chromosomes
● Size and morphology
● Karyotype analysis
● Cytogenetics and clinical molecular cytogenomics
Mendelian inheritance and its exceptions
● Autosomal recessive and dominant, X-linked
● Imprinting, genetic heterogeneity, reduced penetrance, variable expressivity
● Recurrence risk for Mendelian traits in human pedigrees

Genetics 2:
The Human Genome Project and its developments
● HapMap Project
● 1000 Genomes Project
● The Cancer Genome Atlas (TCGA)
High-throughput technologies and their applications
● Genome-wide association study (GWAS)
● Next-generation sequencing (NGS)
● Whole genome sequencing (WGS)
● Whole exome sequencing (WES)
● Whole transcriptome (WT)
Basic principles of clinical genetics
● Chromosomal syndromes and genomic disorders
● Dynamic mutations and mental retardation
● Neuromuscular disorders and cardiomyopathies
● Mendelian diseases: Hemoglobinopathies, hemophilia, cystic fibrosis, hearing loss, cardiomyopathies
● Clinical cancer genetics
● Prenatal diagnosis of genetic disorders

Suggested Biology textbooks:
Essential Cell Biology. Alberts et al. Norton. (latest edition)
Cell and Molecular Biology” Gerald Karp published by Wiley & Sons, Inc
“World of the Cell” Becker, Kleinsmith, Hardin, Bertoni published by Pearson Education
“The Cell, a molecular approach” Geoffrey M Cooper published by Sinauer



Suggested Genetics texbook:
Nussabaum, McInnes, Willard: Thomson & Thomson - Genetics in Medicine, Elsevier (latest edition)
Bruce Korf and Mira Irons, Human Genetics and Genomics, Wiley-Blackwell (latest edition)

Module: BIOLOGY AND GENETICS I
N/D
Module: BIOLOGY AND GENETICS II
N/D
Module: BIOLOGY AND GENETICS II
N/D
Module: BIOLOGY AND GENETICS I
N/D

Frontal lectures on slides that will be made available to the students
Seminars and journal clubs
Exercises to understand the more complicated concepts.,

Attendance to 2/3 of the lectures is mandatory.

Written exam (multiple-choice quiz) and oral exam (optional).
The final grade will be the average of the two modules of the course.
The exam will be held exclusively in English.
ORAL EXAM:
- Minimum number of questions: 2
- No clinical cases
- Weighted average of four modules (Biology 1 and 2, Genetics 1 and 2)
WRITTEN EXAM:
- Minimum number of quizzes: 20
- Type of quiz: Multiple choice and open-ended questions
- Minimum time: 1 hour and 30 minutes
- Scoring: 1 point for multiple-choice questions, up to 5 points for open-ended questions
- Minimum passing score: 18

There will be an ongoing exam (recorded on GOMP). It is not necessary to take all the exam modules in the same session if the ongoing exam is passed. The grade for each module is valid for the entire current academic year.

In eukaryotes, there are three different RNA polymerases. The RNA polymerase responsible for transcription of mRNA is:
a) RNA polymerase I
b) RNA polymerase II
c) RNA polymerase III
d) DNA polymerase I
e) Primase

Chaperones (hsp70) and chaperonins (hsp 60) are proteins involved in:
a) initiation of translation
b) elongation of translation
c) protein trafficking
d) termination of translation
e) protein folding

In eukaryotes, ribosomes become associated with endoplasmic reticulum membranes when
a) a signal sequence on the mRNA interacts with a receptor protein on the membrane.
b) a signal sequence on the ribosome interacts with a receptor protein on the membrane.
c) a signal sequence at the amino terminus of the protein being synthesized interacts with a receptor protein on the ribosome.
d) a signal sequence on the protein being synthesized interacts with a signal recognition particle and both bind to the endoplasmic reticulum.
e) the messenger RNA passes through a pore in the membrane.

• Biology 1 (4 CFU)


• Genetics 1 (1 CFU)


• Biology 2 (2 CFU)


• Genetica 2 (2 CFU)