01132 - Molecular Pathology - Immunology (Integrated Course) (2)

Learning outcomes

This course provides an in-depth overview of the molecular and clinical basis of genetic diseases, addressing the mechanisms underlying human genetic variability and the methodologies used for their investigation. A special focus is given to monogenic, chromosomal, and complex disorders, as well as emerging topics in epigenetics, noncoding RNAs, and gene therapy.

This course provides a comprehensive overview of the biological and molecular basis of cancer. Students will explore the fundamental concepts of tumor development, classification, and progression, as well as the genetic and environmental factors contributing to carcinogenesis. Emphasis will be placed on understanding the hallmarks of cancer, including tumor angiogenesis, immune evasion, metabolic reprogramming, and metastatic dissemination.

Course contents

GENETIC DISORDERS


-Human genetic variability. Mechanisms of genotoxic DNA damage repair. Molecular diagnostic techniques.
-Monogenic diseases. Mutations and their effects.
Examples of disorders with autosomal dominant inheritance: cystic kidney diseases, familial hypercholesterolemia, osteogenesis imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome.
Examples of disorders with autosomal recessive inheritance: thalassemias, cystic fibrosis, and spinal muscular atrophy.
Examples of X-linked disorders: Duchenne and Becker muscular dystrophies.
-Disorders caused by repeat sequence expansions.
-Lysosomal storage diseases and enzymopathies.
-Epigenetic and post-transcriptional mechanisms regulating gene expression. Genomic imprinting: Prader-Willi and Angelman syndromes.
-Chromosomal disorders. Sex chromosome abnormalities and 22q11.2 deletion syndrome.
-Multigenic diseases.
-Principles of gene therapy.


CANCER BIOLOGY AND MOLECULAR ONCOLOGY


- Introduction to Cancer Biology: Definition, classification, and terminology.
- Epidemiology and Risk Factors of Cancer.
- Oncogenes, Tumor Suppressor Genes, and Hereditary Tumors.
- Tumor Heterogeneity and Clonal Evolution.
- Hallmarks of Cancer: Angiogenesis. Tumor Microenvironment. Immune Evasion. Metastasis. Cancer Metabolism.
- Mechanisms of Carcinogenesis: Physical. Chemical. Biological.
- Cancer Prevention: Primary and secondary prevention, chemoprevention.
- Clinical Implications: Paraneoplastic syndromes and cancer cachexia.
- Fundamentals and molecular and biological mechanisms of radiation, pharmacological, biological, immunological, and gene therapies for cancer.

Readings/Bibliography

Lecture slides

Recommended:

• Pardi e Di Fiore, Patogenesi. Ed. Piccin
• P-L Lollini – Cellular and molecular oncology (open access book available in Virtuale website)

  Consultation:

• Weinberg The Biology of Cancer, Second Edition.
• Tom Strachan e Anneke Lucassen, Genetica e genomica nelle scienze mediche, ed. 2024 Zanichelli
• R G.M. Pontieri, Patologia generale e fisiopatologia generale. Vol. 1, VI edizione (2018) ed. Piccin
• Robbins & Cotran Pathologic Basis of Disease 9th edition
• Rubin’s Pathology 7th, Wolters Kluwer ed

Teaching methods

The course is structured in frontal lectures, supported by PowerPoint slides. Slides available on "virtuale.unibo.it".

Assessment methods

The final examination is designed to assess the achievement of the course learning objectives, namely the acquisition of the fundamental concepts of Immunology, Medical Genetics, Genetic Pathology, and Molecular Oncology. The examination aims to evaluate students’ ability not only to recall core knowledge but also to apply it appropriately and to integrate concepts through logical and critical reasoning.

Assessment for the Integrated Course in Immunology and Molecular Pathology consists of a written examination and an oral examination.

The written examination covers the Immunology component.

The oral examination covers the Molecular Pathology and Medical Genetics components.

The two examinations may be taken in separate examination sessions. A passing grade (≥18/30) obtained in either examination remains valid for one calendar year.

To pass the integrated course, students must obtain a passing grade in each of the following components:

Immunology (5 ECTS credits)

Medical Genetics (1 ECTS credit)

Molecular Pathology: Genetic Pathology (2 ECTS credits)

Molecular Oncology (3 ECTS credits)

The final grade is calculated as the weighted average (based on ECTS credits) of the four component grades. A grade of 30 in all four components results in a final grade of 30 with honors (30 cum laude).

Students with specific learning disabilities (SLD) or temporary or permanent disabilities are encouraged to contact the University's Disability and Specific Learning Disabilities Office well in advance (https://site.unibo.it/studenti-con-disabilita-e-dsa). The Office will propose appropriate accommodations, which must be submitted to the course instructors for approval at least 15 days before the examination. Approval will be granted taking into account both the student's needs and the course learning objectives.

Final Grade Scale

Fail (<18/30): Inadequate preparation, characterized by significant gaps in knowledge and serious, repeated conceptual errors.

18–19/30: Adequate knowledge of the fundamental concepts without major deficiencies. Overall acceptable presentation and use of scientific terminology.

20–24/30: Sound knowledge of the fundamental concepts. Partial ability to analyze and integrate information independently. Clear presentation and appropriate scientific language.

25–29/30: Good to very good preparation, or excellent preparation with minor inaccuracies in presentation that prevent the highest grade. Ability to analyze and integrate concepts independently. Logical organization of concepts and good command of scientific terminology.

30–30 cum laude: Comprehensive, well-established, and accurate knowledge of all course topics. Excellent ability to frame and discuss scientific issues, analyze and integrate concepts independently, and present information clearly with complete mastery of the appropriate scientific terminology.

Office hours

See the website of Manuela Ferracin