- Docente: Lorenzo Montanaro
- Credits: 3
- SSD: MED/05
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: First cycle degree programme (L) in Biomedical Laboratory techniques (cod. 8484)
Learning outcomes
At the end of the course the student holds the basic knowledge for performing, critically evaluating and understanding the results of the major laboratory tests applied to the diagnosis of inherited disorders
Course contents
1. Cystic Fibrosis: epidemiological, pathophysiological and general clinical features, laboratory diagnosis.
2. Hemoglobinopathies: sickle cell anemia, alpha- and beta-thalassemias - epidemiological, physiopathological and general clinical features, laboratory diagnosis.
3. Triplet-amplification disorders: fragile X syndrome, myotonic dystrophy Huntington's disease - epidemiological, pathophysiological and general clinical features, laboratory diagnosis.
4. Alzheimer's disease: epidemiological, pathophysiological and general clinical features, sporadic forms and familiar forms, role of the laboratory.
5. Disorders deriving from alterations of fundamental cellular pathways: mitochondrial disorders, ribosomopathies, telomeropathies, etc. examples and diagnostic paths.
6. quantitative PCR. Principles and applications of the following techniques: real time PCR, One-Step-Nucleic Acid-Amplification, digital PCR.
7. Molecular diagnostics of neoplasms: basic techniques and approaches through second generation sequencing.
8. personalized diagnostics: "precision medicine"
Readings/Bibliography
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Teaching methods
teaching lessons, seminars
Assessment methods
The final mark of the integrated course Clinical Pathology II will be the average of the marks obtained in the exams of Applied Clinical Pathology, Genetic Clinical Pathology and Techniques of Clinical Pathology 2.
Teaching tools
Students receive the files of the presentations shown during the teaching lessons
Office hours
See the website of Lorenzo Montanaro
SDGs

This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.