Nursing

Activity type

Scienze biomediche

SSD

BIO/13

Year

1st year

Semester

1st semester

CFU

1

Hours distribution

12 classroom hours

Lecturers

ROSSELLA MAIONE

Activity type

Scienze propedeutiche

SSD

FIS/07

Year

1st year

Semester

1st semester

CFU

1

Hours distribution

12 classroom hours

Lecturers

Giuseppe Marzo

Activity type

Scienze biomediche

SSD

BIO/10

Year

1st year

Semester

1st semester

CFU

2

Hours distribution

24 classroom hours

Lecturers

MARZIA ARESE

Activity type

Scienze biomediche

SSD

MED/03

Year

1st year

Semester

1st semester

CFU

1

Hours distribution

12 classroom hours

Lecturers

MARIA PIANE

Module: Biochemistry
By the end of the course, the student will:
• Delineate the main aspects of structural and functional organization of cells and sub-cellular compartments.
• Have a clear view of the flow of genetic information and be able to explain the mechanisms by which biological traits are inherited.



Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
To acquire the structural and functional basis of the main classes of biological molecules and macromolecules.
To understand the physiological and bio-medical relevance of the mechanisms underlying complex cellular metabolic processes.
Associate the basic contents provided with applicative and professional concepts that will be developed in parallel or subsequently in other modules.


Module: APPLIED PHYSICS
Medical Genetics aims to provide the basic general concepts necessary to understand the mode of transmission of hereditary characteristics normal and pathological. At the end of the course the student will learn about the inheritance of some genetic disorders.

Module: Biochemistry
Background knowledge of Cellular and Molecular Biology


Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
For a fruitful study of the subject and for an adequate understanding of the didactic materials, notions of basic arithmetic and basic chemistry should be considered as a prerequisite.


Module: APPLIED PHYSICS
Knowledge of:
The structure and function of DNA
From DNA to protein: transcription, RNA splicing the genetic code, translation. Mitosis meiosis

Module: Biochemistry
Clarify the main aspects of cell metabolism, organization and reproduction.
Clarify the cellular and molecular mechanisms underlying the flow of genetic information and the inheritance of biological characteristics.
Program
Introduction to Cell Biology
properties of living things.
Main classes of biological molecules: carbohydrates, lipids, proteins and nucleic acids.
Prokaryotic and eukaryotic cells. Virus.

- The structure and cellular functions
Biological membranes and transport through membranes.
intracellular compartments.
Cytoskeleton and cell movement.
Interactions between cells and environment

- The storage and transmission of genetic information
Structure and function of DNA. concept of the gene.
Organization of DNA in chromosomes.
DNA replication.

- The expression of the genetic information
Transcription and RNA maturation.
Genetic code and translation.
Regulation of gene expression and cell differentiation.

- The cellular basis of reproduction
cell cycle and mitosis.
Genetic variability and sexual reproduction.
Haploid and diploid.
Meiosis, gametogenesis and fertilization.

- Overview of the main diagnostic and therapeutic applications of biotechnology:
Manipulation and analysis of DNA
gene therapy
Stamina cells




Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS

• Basic Chemistry:
- The atom and the chemical bond.
- Inorganic and organic molecules: structure, functional groups and properties (polar/non-polar, acid/base).
- Groundwork on the gaseous state: parameters and laws. Air composition and oxygen properties. Henry's Law: hyperbaric chambers.
- Physico-chemical properties of water; polarity.
- Solutions: definition and concentration measurement, electrolytes.
- Colligative properties: the osmotic pressure. Hydro-saline balance: edema and dehydration. The dialysis
- Acids and bases, pH; outlines on biological buffers.

• Structure and function of biological molecules:
- Carbohydrates: mono-, oligo- and polysaccharides.
- Simple and derived lipids (cholesterol, phospholipids, triglycerids); biological membranes.
- Amino acids and proteins. Structure-function relationships. Hemoglobins. Myoglobin. Collagen, Insulin, Immunoglobulins.
Membrane proteins and active transport (sodium/potassium pump, mitochondrial complexes)
- Hints on the biological and enzymatic reactions.
- Hints on the structure and function relationship of nucleotides and nucleic acids.
- Hints on energy metabolism, catabolic/anabolic reactions, ATP.


Module: APPLIED PHYSICS
Aims of the Course:

Medical Genetics aims to provide the basic general concepts necessary to understand the mode of transmission of hereditary characteristics normal and pathological. At the end of the course the student will learn about the inheritance of some genetic disorders.


Program of Medical Genetics

The structure and function of DNA
From DNA to protein: transcription, RNA splicing the genetic code, translation.
Human genome organization
Genes and mutations.
Origin of mutations. Point mutations, deletions, insertions, splicing mutations, dynamic mutations.
Structure and function of chromosomes.
Human chromosomes: the number, structure and function.
Chromosomal aberrations.
The normal and pathological human karyotype
Correlations between gametogenesis, meiosis, and segregation.
Family pedigrees: symbols
Concepts of inherited traits, gene, allele, locus
Mendel's laws and allelic interactions: dominance and recessive, phenotype and genotype
Family pedigrees: symbols
Classification of genetic disorders
Examples of hereditary monogenic Mendelian transmission:
autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant.
Non Mendelian inheritance

Module: Biochemistry
- Campbell, & Reece. Biologia e genetica Ed. Pearson.
- Sadava, Heller, Orians, Purves, Hillis Elementi di Biologia e Genetica. Ed. Zanichelli.
- Bevilacqua, Chieffi, Speranza, Canterini, Pesce, Montorsi. Basi molecolari e cellulari della vita (Ed. Piccin)
- Solomon, Berg, Martin. Elementi di Biologia. Ed. EdiSES.
- Roberti, Alunni Bistocchi, Antognelli, Talesa. Biochimica e Biologia. Ed. McGraw-Hill
- eventualmente un altro testo di biologia molecolare della cellula (da concordare con il
docente)



Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
Textbooks: (choose among the following, eventually consider an English version)

- Samaja, Paroni “Chimica e Biochimica” Ed. Piccin
- Purves, Sadava, Orians, Heller. Biologia. Volumi: “La cellula” e “L’informazione e l’ereditarietà”. Ed. Zanichelli.
- Bertollini, Brunori, Sarti. “chimica e propedeutica biochimica”. Ed. Carocci Faber
- Stefani, Taddei “Chimica, Biochimica e Biologia applicata” Zanichelli
- Marinello, Raggi. “Elementi di Chimica e Biochimica Medica”. Ed ETS


Module: APPLIED PHYSICS
Biologia e Genetica N A. Campbell e J B. Reece:. Pearson
Elementi di biologia e genetica. William K. Purves, David Sadava, Gordon H. Orians, H. Craig Heller: Ed Zanichelli
Genetica umana e medica (Neri, Genuardi) Ed. Elsevier Masson
Links consigliati: Mendelian Inheritance in Man : http://www.ncbi.nlm.nih.gov/Omim/

Module: Biochemistry
N/D
Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
N/D
Module: APPLIED PHYSICS
N/D

Module: Biochemistry
Classroom lessons and exercises.


Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
Front lessons regarding the scheduled subjects


Module: APPLIED PHYSICS
scritto in forma di test a risposta multipla

Module: Biochemistry
In principle, only those students who have attended at least 67% of the lessons are admitted at the exam


Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
attendance mandatory, 24 hours (2 CFU)


Module: APPLIED PHYSICS
obbligatoria

Module: Biochemistry
Written part followed by a brief interview in case of passing the test


Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
Written (multiple choice, fill the gap, open questions); Short oral dissertation


Module: APPLIED PHYSICS
scritto in forma di test a risposta multipla

Module: Biochemistry
The written parts consist mainly of multiple-choice questions and, in some cases, of true/false or short-answer questions.


Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
EXAMPLES OF WRITTEN QUESTIONS:
1) the functional group that gives ACID characteristics to a molecule:
a - carboxyl group (COOH)
b - hydroxyl or alcoholic group (OH)
c - amino group (NH2)
d - methyl group (CH3)

2) A phospholipid is:
a - formed by two fatty acid molecules
b - made up of 3 fatty acid molecules
c - a molecule with a nonpolar head and two polar tails
d - a more nonpolar molecule than cholesterol

3) Amino acids
a - they bind to each other through a reaction between the side chains (R)
b - they all have an amino group
c - have the same R group in all amino acids
d - cannot be hydrophobic (apolar)

4) Cholesterol:
a - is a membrane protein
b - is a lipid that circulates freely in the blood
c - undertakes dipole - dipole interactions with phospholipid chains
d - has a non-polar structure associated with the alcoholic (hydroxyl) functional group

5) Insulin:
a - It is a membrane protein
b - is a lipid that circulates freely in the blood
c - binds to a specific membrane receptor
d - binds cholesterol

EXAMPLES ORAL QUESTIONS:
1) How is an acid defined
2) What is hydrogen bonding
3) What is joined by the peptide bond and in what process is it formed?
4) What molecules does the cell membrane consist of?
5) what is the electronegativity of an element
6) Glucose:
- which class of molecules it belongs to;
- why its function is important;
- which functional groups it has;
- is it polar or non-polar?


Module: APPLIED PHYSICS
domanda a risposta multipla e a risposta aperta

Module: Biochemistry
N/D
Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
N/D
Module: APPLIED PHYSICS
N/D