01132 - Molecular Pathology - Immunology (Integrated Course) (L-Z)

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

Readings/Bibliography

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.
• R G.M. Pontieri, Patologia generale e fisiopatologia generale. Vol. 1, VI edizione (2018) ed. Piccin
• Genetics and Genomics in Medicine, Tom Strachan, Anneke Lucassen, 2nd ed. CRC Press
• Rubin’s Pathology 7th, Wolters Kluwer ed

Teaching methods

The course is structured in 5 CFU (40 hours) of frontal lectures, supported by PowerPoint slides. Slides available on "virtuale.unibo.it".

Assessment methods

The final oral examination is designed to assess the achievement of the learning objectives, specifically the knowledge of the main concepts of genetic pathology and molecular oncology.

The grade is determined through an oral examination and expressed on a 30-point scale. The exam is considered passed with a minimum grade of 18/30.

The purpose of the oral exam is to verify the student’s knowledge of the course content and the ability to establish the necessary logical-deductive connections.

Grading scale:

• Fail: Inadequate preparation. Severe and repeated conceptual errors.

• 18–19: Knowledge of basic concepts without major gaps. Overall acceptable exposition and terminology.

• 20–24: Solid knowledge of basic concepts. Partial autonomy in analysis and connections. Fair exposition and terminology.

• 25–29: Good to very good preparation, or even excellent preparation with some inaccuracies in exposition preventing the highest grade. Independent analytical and logical abilities. Correct sequencing of concepts and appropriate command of terminology.

• 30–30L (with honors): Complete, consolidated preparation without inaccuracies in the covered topics. Prompt ability to contextualize subjects. Independent analytical and logical skills. Accurate sequencing of concepts and full mastery of technical language.

Office hours

See the website of Manuela Ferracin