39310 - Clinical Pathology Genetics

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