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. Neonatal screening test: principles and main applications for phenylketonuria, congenital hypothyroidism, cystic fibrosis, enlarged screening.

6. Definition of Genetic tests

7. Biochemical techniques applied to the diagnosis of eredo-constitutional diseases

8. real time PCR: principles and applications

Readings/Bibliography

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Teaching methods

teaching lessons, seminars

Assessment methods

joint oral final examination with the other disciplines of the integrated course. The knowledge of at least two different topics of the program will be examined.

Teaching tools

Students receive the files of the presentations shown during the teaching lessons

Office hours

See the website of Lorenzo Montanaro