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 and DNA Damage Repair:

Mechanisms of genotoxic damage and DNA repair; molecular techniques for genetic analysis.

Monogenic Disorders:

Mutation types and pathogenic mechanisms; inheritance patterns including autosomal dominant, autosomal recessive, and X-linked disorders.

Case studies: Duchenne and Becker muscular dystrophies, osteogenesis imperfecta, cystic fibrosis, Tay-Sachs disease, and selected lysosomal storage disorders.

Non-Classical Inheritance:

Disorders involving atypical inheritance mechanisms, including mitochondrial and epigenetic contributions.

Epigenetic and Post-Transcriptional Regulation of Gene Expression:

Role of DNA methylation, histone modification, and noncoding RNAs; genomic imprinting and associated syndromes (e.g., Prader-Willi and Angelman).

Repeat Expansion Disorders:

Pathogenic nucleotide repeat expansions: Fragile X syndrome, Huntington’s disease, and C9orf72-related neurodegeneration.

Chromosomal Disorders:

Structural and numerical chromosomal abnormalities; sex chromosome aneuploidies; 22q11.2 deletion syndrome.

Complex and Mitochondrial Diseases:

Genetic basis and examples of polygenic/multifactorial conditions and mitochondrial disorders.

Noncoding RNAs and Disease:

Functional roles and pathological alterations of miRNAs, lncRNAs, and other noncoding RNAs.

Genetic Testing and Research Methodologies:

Overview of classical and next-generation sequencing, array-based technologies, and genome editing approaches.

Pharmacogenetics and Gene Therapy:

Principles of personalized medicine, genetic determinants of drug response, and therapeutic applications of gene transfer technologies.

 

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
• Robbins & Cotran Pathologic Basis of Disease 9th edition
• 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