01132 - Molecular Pathology - Immunology (Integrated Course)

Learning outcomes

At the end of the Molecular Pathology course, students will:

• understand the molecular pathogenesis of selected human diseases;
• understand the molecular mechanisms by which genomic alterations lead to disease;
• understand the molecular and genetic basis of cancer, including the mechanisms underlying tumor initiation and progression, as well as the distinctive biological features of neoplastic diseases;
• understand current strategies for cancer prevention and the most innovative approaches for the diagnosis, monitoring, and treatment of neoplastic diseases.

Course contents

MOLECULAR ONCOLOGY

The course explores the biological and molecular basis of cancer, focusing on the major mechanisms underlying neoplastic transformation, tumor progression, and metastatic dissemination.

Fundamental concepts of oncology will be introduced, including tumor classification and the biological characteristics of benign and malignant neoplasms.

The molecular mechanisms of carcinogenesis will be examined, with particular emphasis on the role of oncogenes, tumor suppressor genes, and genes involved in the maintenance of genomic stability ("gatekeeper" and "caretaker" genes), the mechanisms leading to their activation or inactivation, and the biological and therapeutic consequences of these alterations.

The course will also cover the major hallmarks of cancer, including sustained proliferative signaling, dysregulation of cell death, genomic instability, metabolic reprogramming, angiogenesis, immune evasion, and metastatic progression.

In addition, the course will address the major causes of cancer, including exposure to physical, chemical, and biological carcinogens, the molecular mechanisms of carcinogenesis, epidemiological aspects of cancer, and strategies for primary, secondary, and tertiary prevention, including chemoprevention and immunoprevention.

Finally, the biological principles underlying the main anticancer therapeutic strategies will be discussed, including radiotherapy, chemotherapy, molecularly targeted therapies, immunotherapy, and gene therapy.

GENETIC PATHOLOGY

The course examines the molecular mechanisms by which alterations of the genome and of gene expression regulatory systems lead to the development of genetic diseases.

The major types of genetic mutations and their functional consequences on protein function and cellular pathways will be analyzed, with particular emphasis on the mechanisms of loss of function, gain of function, haploinsufficiency, and dominant-negative effects.

The course will describe the principal mechanisms responsible for maintaining genomic integrity and repairing DNA damage, including Base Excision Repair (BER), Nucleotide Excision Repair (NER), Mismatch Repair (MMR), Homologous Recombination (HR), and Non-Homologous End Joining (NHEJ), highlighting their role in the pathogenesis of genetic disorders.

Furthermore, the course will explore the major mechanisms regulating gene expression involved in human disease, including epigenetic regulation, genomic imprinting, alternative splicing, and post-transcriptional regulation, illustrating their contribution to the development of genetic disorders through representative clinical examples.

The molecular basis of genetic diseases will be illustrated through the analysis of paradigmatic models of human pathology, including cystic fibrosis, osteogenesis imperfecta, familial hypercholesterolemia, Duchenne muscular dystrophy, lysosomal storage disorders, and chromosomal microdeletion syndromes, highlighting the relationship between molecular alterations, cellular dysfunction, and clinical manifestations.

Readings/Bibliography

Recommended Textbooks

• Kumar V., Klatt E.C. Robbins Basic Pathology and Pathologic Basis of Disease. Edra Masson. (Italian edition: Il manuale di Patologia Generale e Anatomia Patologica).
• Pontieri G.M. General Pathology and General Pathophysiology, Vol. 1, 6th Edition. Piccin, 2018. (Italian edition: Patologia Generale e Fisiopatologia Generale).

Suggested Reading

• Strachan T., Read A. Human Molecular Genetics. UTET. (Italian edition: Genetica Molecolare Umana).
• Thompson & Thompson. Genetics in Medicine. UTET. (Italian edition: La genetica in medicina).
• Selected scientific literature provided during the course.
• Lollini P.-L. Cellular and Molecular Oncology (Course handout).

Teaching methods

Lectures supported by PowerPoint presentations.

Interactive quizzes and discussion of clinical case studies using the Wooclap platform to promote active learning and immediate feedback.

Flipped classroom sessions for selected topics, encouraging students to prepare learning materials in advance and actively participate in classroom discussion and problem-solving activities.

Assessment methods

Assessment methods

Student learning is assessed through a final written examination designed to evaluate the achievement of the course learning outcomes and the acquisition of knowledge in the following areas:

• Molecular Oncology;
• Genetic Pathology;
• Medical Genetics.

The examination is computer-based and administered through the University EOL platform in a computer laboratory. The total duration of the examination is 90 minutes and consists of:

• 12 multiple-choice questions, including:
  • 8 questions in Molecular Oncology;
  • 4 questions in Genetic Pathology;
• 2 semi-structured questions in Medical Genetics;
• 2 open-ended questions, one in Molecular Oncology and one in Genetic Pathology.

Assessment criteria

Each multiple-choice question is worth 1 point.

Each semi-structured Medical Genetics question is worth 2 points.

Each open-ended question is worth 8 points.

The maximum score is 32 points, including 2 bonus points that may be awarded for outstanding performance (honours).

To pass the examination, students must achieve a minimum score of 5 out of 8 in each of the two open-ended questions. Failure to reach this minimum score in either open-ended question results in failure of the entire examination, regardless of the total score obtained.

Since the Medical Genetics section contributes 4 points to the overall examination score, failure to answer these questions limits the maximum achievable mark to 26/30 (excluding the 2 bonus points available for honours).

The examination is passed with a minimum final mark of 18/30.

The examination mark represents the overall assessment for the integrated teaching units Molecular Pathology (5 ECTS credits) and Medical Genetics (1 ECTS credit), corresponding to a total of 6 ECTS credits.

The final mark for the integrated course will be calculated as a weighted average of this examination (6 ECTS credits) and the mark obtained in Immunology (5 ECTS credits) according to the following formula:

Final integrated course grade = [(Molecular Pathology and Medical Genetics grade × 6) + (Immunology grade × 5)] / 11

Students with Specific Learning Disorders (SLD) or with temporary or permanent disabilities are invited to contact the University's Disability and SLD Support Office well in advance:
https://site.unibo.it/studenti-con-disabilita-e-dsa/it

The Support Office will propose any necessary accommodations, which must be submitted to the course instructor for approval at least 15 days before the examination. Any accommodations will be evaluated in relation to the learning outcomes of the course.

Teaching tools

The primary teaching resource consists of lecture slides summarizing the key concepts and core knowledge that students are expected to acquire throughout the course. All lecture slides will be made available in electronic format through the University's Virtual Learning Environment (VIRTUALE):
https://virtuale.unibo.it/

Students will also be required to read selected scientific papers and/or watch short supporting videos (in either Italian or English) covering the fundamental concepts discussed during the lectures. All supplementary learning materials will be made available through the VIRTUALE platform.

Office hours

See the website of Aurelia Santoro