Fondamenti di scienze biochimiche
A.Y. 2025/2026
Learning objectives
The integrated course aims to provide students with essential knowledge of the molecular, biochemical, cellular, and genetic mechanisms underlying human physiology and pathology.
The course covers core principles of general chemistry, organic chemistry, and cellular biochemistry, molecular biology and medical genetics, as well as the basics of clinical biochemistry and laboratory diagnostics.
Special emphasis is placed on topics relevant to the pathophysiology of ocular tissues and the visual system, the understanding of eye diseases, and the appropriate use of biochemical, molecular, and genetic data in clinical practice.
The overall goal is to provide a solid interdisciplinary foundation on which students can progressively build clinical and technical diagnostic skills in the field of orthoptics and ophthalmic care.
The course covers core principles of general chemistry, organic chemistry, and cellular biochemistry, molecular biology and medical genetics, as well as the basics of clinical biochemistry and laboratory diagnostics.
Special emphasis is placed on topics relevant to the pathophysiology of ocular tissues and the visual system, the understanding of eye diseases, and the appropriate use of biochemical, molecular, and genetic data in clinical practice.
The overall goal is to provide a solid interdisciplinary foundation on which students can progressively build clinical and technical diagnostic skills in the field of orthoptics and ophthalmic care.
Expected learning outcomes
By the end of the integrated course, students will be able to:
Understand the fundamental principles of general chemistry, organic chemistry, and cellular biochemistry.
Know the structure and function of major biological macromolecules and key cellular metabolic processes.
Understand gene regulation mechanisms and the inheritance of genetic traits.
Interpret the role of genetic and molecular abnormalities in ocular and systemic diseases.
Understand the principles and phases of laboratory diagnostics (pre-analytical, analytical, post-analytical).
Accurately interpret laboratory data relevant to clinical evaluation (basic biochemical tests, hematological indices, lipid and glucose metabolism).
Recognize the value and limitations of genetic tests and genetic counseling in diagnostic and therapeutic pathways.
Understand the fundamental principles of general chemistry, organic chemistry, and cellular biochemistry.
Know the structure and function of major biological macromolecules and key cellular metabolic processes.
Understand gene regulation mechanisms and the inheritance of genetic traits.
Interpret the role of genetic and molecular abnormalities in ocular and systemic diseases.
Understand the principles and phases of laboratory diagnostics (pre-analytical, analytical, post-analytical).
Accurately interpret laboratory data relevant to clinical evaluation (basic biochemical tests, hematological indices, lipid and glucose metabolism).
Recognize the value and limitations of genetic tests and genetic counseling in diagnostic and therapeutic pathways.
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Responsible
Prerequisites for admission
Prerequisites are not required
Assessment methods and Criteria
Multiple choice questions
Are planned tests for the individual exam modules
Are planned tests for the individual exam modules
Biochimica
Course syllabus
Preliminary step
Fundamental concepts of General Chemistry: Atoms. Molecules. Periodic Table of elements. Chemical bond. Reactions: chemical kinetics, equilibria. pH of acids and bases, buffer solutions. Fundamental concepts of Organic Chemistry: main functional groups: structures and reactions. Classes of biological compounds: carbohydrates, lipids, aminoacids and proteins.
Fundamental concepts of General Chemistry: Atoms. Molecules. Periodic Table of elements. Chemical bond. Reactions: chemical kinetics, equilibria. pH of acids and bases, buffer solutions. Fundamental concepts of Organic Chemistry: main functional groups: structures and reactions. Classes of biological compounds: carbohydrates, lipids, aminoacids and proteins.
Teaching methods
Whole class teaching. The slides of the lessons of biochemistry are given to the students on the Ariel platform. In order to study the introductory part of chemistry the notes are adequate.
Teaching Resources
Testo consigliato: M.Stefani, N. Taddei-Chimica, Biochimica - ed Zanichelli
Biochimica clinica e biologia molecolare
Course syllabus
· Pre-analytical phase: main indications for requesting the laboratory tests; types of biological samples with particular attention to blood sample; specimen collection, storage and treatment; sources of pre-analytical variability, factors related to sample, intra- and inter-individual biological variability.
· Analytical phase: analytical variability; reliability of analytical methods, concepts of precision and trueness; types of errors; internal quality control and external quality assessment procedures.
· Post-analytical phase: reference intervals; decisional limits; critical difference; the medical report.
· Laboratory diagnosis and management of diabetes mellitus.
· Biochemical-clinical aspects concerning the measurement of hemoglobin concentration in blood, total blood count test; Evaluation of the iron metabolism alterations with particular attention to the laboratory tests useful for the diagnosis of iron deficiency anemia.
· Laboratory role in the evaluation of the disorders of lipids and lipoproteins
· Analytical phase: analytical variability; reliability of analytical methods, concepts of precision and trueness; types of errors; internal quality control and external quality assessment procedures.
· Post-analytical phase: reference intervals; decisional limits; critical difference; the medical report.
· Laboratory diagnosis and management of diabetes mellitus.
· Biochemical-clinical aspects concerning the measurement of hemoglobin concentration in blood, total blood count test; Evaluation of the iron metabolism alterations with particular attention to the laboratory tests useful for the diagnosis of iron deficiency anemia.
· Laboratory role in the evaluation of the disorders of lipids and lipoproteins
Teaching methods
Interactive lectures. The slides of the lessons together with some scientific papers on the topics covered, are provided to the students on the Ariel platform.
Teaching Resources
- E. Albi, T. Beccari, S. Cataldi. Biochimica clinica essenziale, dal laboratorio ai quadri di patologia clinica. Zanichelli,
Bologna, 2019.
- M. Ciaccio, G. Lippi. Biochimica Clinica e Medicina di Laboratorio. EdiSES , Napoli, 2018.
- M. Panteghini. Interpretazione degli esami di laboratorio. Trattato italiano di medicina di laboratorio; volume VII.
Piccin, 2008.
Bologna, 2019.
- M. Ciaccio, G. Lippi. Biochimica Clinica e Medicina di Laboratorio. EdiSES , Napoli, 2018.
- M. Panteghini. Interpretazione degli esami di laboratorio. Trattato italiano di medicina di laboratorio; volume VII.
Piccin, 2008.
Biologia applicata
Course syllabus
Characteristics of living organisms. Cell theory; prokaryotic cells, eukaryotic cells.
2. Biological macromolecules: lipids, sugars, nucleic acids, proteins.
3. DNA structure and replication: the Watson and Crick model; central dogma of biology; Meselson and Stahl experiment; molecular replication; DNA damage repair.
4. Transcription: various types of RNA; synthesis of RNA; maturation of messenger RNAs.
5. Translation and genetic code: genetic code and its properties; protein synthesis mechanism; post-synthetic fate of proteins.
6. The genome of eukaryotes: chromatin structure; the nucleosome; eukaryotic gene structure (introns-exons); control of gene expression.
7. Structure and function of biological membranes: fluid mosaic model; transport through the membrane; endocytosis and exocytosis.
8. Structure and organization of the eukaryotic cell: cell compartmentalization; cell organelles; ribosomes; cytoskeleton.
2. Biological macromolecules: lipids, sugars, nucleic acids, proteins.
3. DNA structure and replication: the Watson and Crick model; central dogma of biology; Meselson and Stahl experiment; molecular replication; DNA damage repair.
4. Transcription: various types of RNA; synthesis of RNA; maturation of messenger RNAs.
5. Translation and genetic code: genetic code and its properties; protein synthesis mechanism; post-synthetic fate of proteins.
6. The genome of eukaryotes: chromatin structure; the nucleosome; eukaryotic gene structure (introns-exons); control of gene expression.
7. Structure and function of biological membranes: fluid mosaic model; transport through the membrane; endocytosis and exocytosis.
8. Structure and organization of the eukaryotic cell: cell compartmentalization; cell organelles; ribosomes; cytoskeleton.
Teaching methods
Lectures and reading of specific scientific articles on cell biology applications in the treatment of pathologies of the visual apparatus.
Teaching Resources
1. Solomon, Berg, Martin ELEMENTI DI BIOLOGIA - EDISES (V ed) 2009
2. Russel, Wolf, Hertz, Starr, McMillan ELEMENTI DI BIOLOGIA CELLULARE + ELEMENTI DI GENETICA -EDISES 2009
3. Sadava, Eller, Orians, Purves, Hillis ELEMENTI DI BIOLOGIA E GENETICA - ZANICHELLI (III ed) 2005
4. Chieffi, Dolfini, Malcovati et al. BIOLOGIA E GENETICA -EDISES (III ed) 2006
5. Raven, Johnson, Mason, Losos, Singer BIOLOGIA CELLULARE + GENETICA E BIOLOGIA MOLECOLARE -PICCIN 2011
2. Russel, Wolf, Hertz, Starr, McMillan ELEMENTI DI BIOLOGIA CELLULARE + ELEMENTI DI GENETICA -EDISES 2009
3. Sadava, Eller, Orians, Purves, Hillis ELEMENTI DI BIOLOGIA E GENETICA - ZANICHELLI (III ed) 2005
4. Chieffi, Dolfini, Malcovati et al. BIOLOGIA E GENETICA -EDISES (III ed) 2006
5. Raven, Johnson, Mason, Losos, Singer BIOLOGIA CELLULARE + GENETICA E BIOLOGIA MOLECOLARE -PICCIN 2011
Genetica medica
Course syllabus
Cell cycle, DNA duplication and cell division
- Somatic cell division: the mitosis
- Germ cell division: the meiosis
- Spermatogenesis and ovogenesis
Human karyotype:
- Chromosome structure, function and classification
- Numerical chromosome abnormalities: non-disjunction at meiosis I and II
- Balanced and unbalanced structural chromosome abnormalities
Inheritance of genetic diseases:
- Monogenic diseases inheritance: dominant and recessive traits
- The study of family trees
- Complex diseases due to interactions between genes and environment (multifactorial diseases): mechanisms of inheritance
- Mono- and multifactorial ocular diseases: examples
Genetic tests (types, significance and techniques) and genetic counselling
- Somatic cell division: the mitosis
- Germ cell division: the meiosis
- Spermatogenesis and ovogenesis
Human karyotype:
- Chromosome structure, function and classification
- Numerical chromosome abnormalities: non-disjunction at meiosis I and II
- Balanced and unbalanced structural chromosome abnormalities
Inheritance of genetic diseases:
- Monogenic diseases inheritance: dominant and recessive traits
- The study of family trees
- Complex diseases due to interactions between genes and environment (multifactorial diseases): mechanisms of inheritance
- Mono- and multifactorial ocular diseases: examples
Genetic tests (types, significance and techniques) and genetic counselling
Teaching methods
Whole class teaching
Teaching Resources
· "Genetica Medica Essenziale" - Dallapiccola-Novelli, Il Minotauro Editore
The teacher gives the slides of the lessons
The teacher gives the slides of the lessons
Modules or teaching units
Biochimica
BIO/10 - BIOCHEMISTRY - University credits: 1
Lessons: 10 hours
Professor:
Lunghi Giulia
Biochimica clinica e biologia molecolare
BIO/12 - CLINICAL BIOCHEMISTRY AND MOLECULAR BIOLOGY - University credits: 1
Lessons: 10 hours
Professor:
Paleari Renata
Biologia applicata
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 1
Lessons: 10 hours
Professor:
Galimberti Daniela
Genetica medica
MED/03 - MEDICAL GENETICS - University credits: 1
Lessons: 10 hours
Professor:
Tabano Silvia Maria
Professor(s)
Reception:
Available on request
RCCS Ca' Granda - Ospedale Maggiore Policlinico - Pad. Invernizzi - 5th floor, wing B