Single channel
Chair (Coordinator) and Rapporteur: MARIA LUISA MANGONI
Module 1:
- Activity type
- Scienze propedeutiche
- SSD
- FIS/07
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 2
- Hours distribution
- 20 classroom hours
- Lecturers
- MICHELA FRATINI
MICHELA FRATINI
Module 2:
- Activity type
- Scienze biomediche
- SSD
- BIO/10
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 2
- Hours distribution
- 20 classroom hours
- Lecturers
- MARIA LUISA MANGONI
Module 3:
- Activity type
- Scienze biomediche
- SSD
- BIO/13
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 10 classroom hours
- Lecturers
- PIERGIORGIO LA ROSA
Module 4:
- Activity type
- Scienze biomediche
- SSD
- MED/03
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 10 classroom hours
- Lecturers
- VIVIANA CAPUTO
Learning outcomes
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The expected learning outcomes are what a student will have to know, know how to use and be able to demonstrate at the end of each segment of the training path followed. The learning outcomes are established by the Study Program in line with the skills required by the training request and are articulated in a progression that allows the student to successfully follow the requirements set by the external training request.
The training objectives include:
-the fundamental principles of biochemistry: Students should acquire a solid understanding of the fundamental principles of biochemistry, including the concepts of structure and function of biomolecules (proteins, carbohydrates, lipids, nucleic acids), the principles of enzymology and the processes of cellular metabolism.
In addition, students should be able to evaluate the importance of biochemical markers, such as neurotransmitter levels or oxidative stress markers, in the diagnosis and evaluation of psychiatric disorders.
Develop Research and Critical Analysis Skills: Students should be able to peruse the scientific literature in the field of biochemistry and psychiatric rehabilitation, developing skills for research, critical analysis, and scientific evidence evaluation.
Understanding how cells work: Students must gain an understanding of different cellular components, such as the cell membrane, nucleus, mitochondria, and endoplasmic reticulum, and their functions within cells.
Understand the Effects of Medications: Students should gain an understanding of the main medications used in psychiatric rehabilitation and their mechanisms of action at the cellular level.
Ability to evaluate scientific studies: Students should develop critical appraisal skills to understand and evaluate scientific studies in the field of neuroscience and psychiatric rehabilitation. They should be able to interpret scientific research findings and assess their relevance to clinical practice.
These learning outcomes focus on integrating the cellular basis of life with practical applications in psychiatric rehabilitation, enabling students to understand the biological mechanisms underlying mental disorders and related treatment strategies.
Furthermore, students should acquire basic knowledge of Physics in coherence with the scientific and technological developments of Medicine in its modern evolution.
Know the fundamental principles of Physics useful for understanding biomedical phenomena and the operating principles of new diagnostic methodologies as well as being able to better acquire interdisciplinary knowledge that involves laws and principles of Physics.
Knowledge and understanding: At the end of the course, the student must: be able to express and explain a physical law with the correct notation and the appropriate use of symbols for the physical quantities that represent it.
Apply knowledge and understanding: knowing how to recognize and apply the laws of physics necessary to explain a physical phenomenon in a generic/medical/biological context.
Communication skills: knowing how to effectively use scientific terminology and technical rhetoric.
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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
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In order to understand the teaching contents and achieve the learning objectives, at the beginning of the didactic activities foreseen by the didactic module, the student must possess a useful knowledge in the biological/chemical field.
Cell Biology: A solid understanding of the fundamental principles of cell biology is essential for understanding the molecular basis of life. This includes cell structure and function, cell division processes and gene regulation
Genetics: A good understanding of the basic principles of genetics is important in understanding how inherited traits and genetic disorders can influence susceptibility to psychiatric disorders. This includes DNA structure, gene replication, transcription and translation.
Biochemistry: Biochemistry provides an important basis for understanding the molecular interactions within cells. This includes the structure and function of proteins, enzymes and signaling molecules such as hormones and neurotransmitters.
Physics: provides the conceptual and mathematical tools to understand the structure of biological molecules. For example, the concepts of chemical bonds, molecular geometry, atomic orbital and van der Waals interactions are all fundamental to understanding how molecules assemble and interact with each other in the context of proteins, enzymes and neurotransmitters.
Research Methods: A familiarity with the research methods used in the study of the molecular basis of life is important for understanding and evaluating the scientific literature in the fields of neuroscience and psychiatry. This includes an understanding of key study designs, laboratory techniques, and data analysis.
These prerequisites will provide students with the foundation needed to understand the molecular basis of psychiatric disorders and practical applications in psychiatric rehabilitation.
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Knowledge of the general aspects of biology.
Programme
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- Atom structure and chemical bonds; Mole concept; Solutions and concentrations (molarity, molality, molar fraction and percentage by weight). Osmotic pressure (3 hours)
- Chemical equilibria, ionic equilibria in aqueous solutions. Acids, bases, definition of pH and buffer systems. Overview of electrochemistry (2 hours).
- Structure and properties of biological molecules: water, carbohydrates, lipids, proteins. Carbohydratesi: mono, oligo and polysaccharides. Structural and energetic reserve polysaccharides. Glycoproteins, Proteoglycans (2 hours)
-Lipids: Classification and structure. Properties of fatty acids. Prostaglandins, thromboxanes and leukotrienes. Phospholipids. Glycolipids. Steroids. Lipids as structural components of membranes. Membrane transport: passive and active (3 hours)
-Proteins: Structure and classification of amino acids. Properties. Peptide bond. Levels of structural organization of proteins. Denaturation (2 hours)
-Proteins and blood enzymes: structure, function, diagnostic significance. High and low density lipoproteins. Hemoglobin and myoglobin. Transport and use of oxygen. Mutant hemoglobins: sickle cell anemia. Structural protein: collagen (3 hours)
- Free energy. Enzymes. Concept of catalysis. Properties of enzymes. Classification. Enzyme inhibition-Metabolism: anabolism and catabolism. Overview of bioenergetics. Summary of ATP. (2 hours)
- Glucose oxidation: glycolysis, krebs cycle and oxidative phosphorylation. Hormonal regulation of glucose metabolism. Lactic and alcoholic fermentation. Gluconeogenesis. Fatty acyl metabolism (biosynthesis and degradation of fatty acids). Chetogenesis. Overview of lipid metabolism
Classical mechanics (physical quantities, laws of dynamics, conservation of energy, 5 hours)
-Fluid mechanics (2.5 hours)
-Thermodynamics in biological systems (2.5 hours)
-Diffusion, filtration, osmosis (2.5 hours)
-Electromagnetism (4 hours)
-Optical Instrumentation (1 hour)
-Electromagnetic radiation in medicine (2.5 hours)
BIOLOGY
Biological macromolecules; nucleic acids, chromatin and chromosomes; DNA replication and repair; transcription and translation; flow of information from genes to proteins; transmission and evolution of genetic information; modulation of gene expression; cell cycle, mitosis and meiosis; gene mutations and epigenetic modifications.
GENETICS
Structure and function of genes and the human genome - DNA, RNA, non-coding RNAs, anatomy of the nuclear human genome, mitochondrial, single sequence DNA, repetitive DNA, tandem repetitive DNA, structure of a gene, pseudogenes, introns, transcripts alternatives, genetic code.
Mutations, polymorphisms, CNV, LOH, rearrangements, dynamic mutations.
HapMap Project, 1000 Genome, The Cancer Genome Atlas (TCGA)
Molecular analysis of nucleic acids - Nucleic acid extraction, restriction enzymes, electrophoresis, hybridization, Southern and Northern blotting, PCR, RT-PCR, TaqMan, ASO, ARMS, OLA, Sanger sequencing, microarray.
Next-generation sequencing (NGS) technologies such as Illumina, Ion Torrent, PacBio, Oxford Nanopore.
Whole genome sequencing WGS), whole exome sequencing WES), whole transcriptome (WT), resequencing (target sequencing).
Study of gene expression, gene mapping using microarrays, principles of genome-wide association studies (GWAS).
Principles of cytogenetics - Chromosomes, centromeres, telomeres, karyotype, banding techniques, chromosomal aberrations of number and structure, genetic counseling.
Molecular cytogenetics: FISH, aCGH
Principles of molecular diagnostics - Thalassemia, cystic fibrosis, hemochromatosis, Angelman, Prader-Willi, hemophilias, Duchenne/Becker dystrophy, fragile X syndrome, Huntington's disease, hereditary cardiomyopathies and arrhythmogenic heart diseases, deafness.
Proto-oncogenes, oncogenes, tumor suppressors, molecular profiling by gene resequencing.
Genetics of complex diseases - Polygenic model for susceptibility to complex diseases. Polygenic model of quantitative traits. Polygenic model for binary characters (threshold model). Twin studies.
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- DNA: structure and function. Protein synthesis.
- Genes, genome, and genetic mutations.
- Transmission of inherited traits.
- Classification of genetic diseases.
- Examples of monogenic diseases.
- Human chromosomes. Karyotype. Chromosomal anomalies. Chromosomal disorders.
- Recurrence risks of monogenic diseases and chromosomal disorders.
- Diagnosis of monogenic diseases and chromosomal disorders.
- Prenatal diagnosis of genetic diseases.
- Genetic counseling: indications, aims, and methods.
Books
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For the purpose of consultation and in-depth study, the recommended books are the following:
1)Purves, Sadava, Orians, Heller. Elementi di Biologia e Genetica. Ed. Zanichelli;
2) M. Samaja- R.Paroni . Chimica e Biochimica per le lauree triennali dell’area biomedica Ed. PICCIN
3) Stefani & Taddei. Chimica Biochimica e Biologica Applicata. Ed. Zanichelli
4) P.C. Champe, R.A. Harvey, D.R. Ferrier- Le basi della biochimica-Ed. Zanichelli
5) Trudy McKee e James R. McKee- Biochimica le basi molecolari della vita- Ed. McGraw-Hill
6) D. Scannicchio, E. Giroletti - Elementi di Fisica Biomedica – Ed. EdiSES
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- Elementi di genetica medica, Clementi, Editore: Edises.
- Teaching material provided by the teacher.
Bibliography
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Fondamenti di Biochimica-Voet and Voet. Zanichelli
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Lessons mode
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The course consists in classroom lectures with audiovisual aids and scheduling o the lessons. The different topics covered during the course can be found on the recommended textbooks and on the auxiliary teaching material which will be eventually made available to students on the e-learning website
The teacher remains available for clarifications and explanations during reception hours
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The course is structured into 10 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
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The student is required to attend educational activities. The frequency is checked by the teachers through signature / updated lists provided by the Academic Office. The certificate of mandatory attendance to the teaching course is required to the student to be admitted at the final test.
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The course takes place in the classroom through face-to-face lectures.
Exam mode
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To pass the exam you must obtain a not less than 18/30 in each module. The student must demonstrate that to have acquired sufficient knowledge of the topics of biochemistry, a basic knowledge of the topics covered in class and be able to recognize the principles underlying the structure-function relationships of biological macromolecules and be aware that the study of Molecular structures is the conceptual basis for understanding metabolic processes and cell physiopathology. To achieve a score of 30/30 cum laude, the student must demonstrate to have acquired excellent knowledge of all the topics covered during the course, and to link them in a logical and consistent way.
For the purposes of the final evaluation of the examination, the preparation of each module of the course is evaluated. One/two "self-evaluation test (multiple choice written questions) is foreseen in preparation for the final evaluation. The test has no weight with respect to the final evaluation of the entire exam of Biochemistry.
The biochemistry exam is written (multiple choice questions) and oral (only oral if remotely). For the purposes of the final evaluation of the Molecular and Cellular Bases of Life exam, the preparation in each module of the course (biochemistry / biology / physics) is assessed, which contributes to the evaluation of the final exam of Molecular Bases of Life in proportion to the respective number of training credits.
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The assessment of learning for the Medical Genetics module will be carried out through an oral examination. During the oral examination, the following will be evaluated: theoretical knowledge, the ability to apply theoretical knowledge to solve practical exercises, and the ability to use appropriate scientific terminology
Example exam questions
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Describe the principal differences of biological macromolecules
Describe a metabolic pathway
Dimensional analysis of a quantity
How is an induced emf produced?
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Describe the structure and functions of DNA. Describe protein synthesis. How does the hereditary transmission of traits occur? What are genetic diseases, and how are they classified? Describe some examples of monogenic and chromosomal diseases. Assess the recurrence risks of monogenic and chromosomal diseases given some examples. How is the diagnosis of monogenic and chromosomal diseases performed? How is the diagnosis of genetic diseases done in prenatal stages? What are the indications, purposes, and methods of genetic counseling.
Arguments
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- Academic year2024/2025
- Degree program to which the course belongsPsychiatric Rehabilitation Technique
- Mandatory presenceNo
- Languageita
- CFU6 CFU, distributed among 4 integrated didactic modules
- Total duration60 hours