39310 - Clinical Pathology Genetics

Learning outcomes

At the end of the course the student possesses the fundamental notions for the execution, critical evaluation and interpretation of the results of the main laboratory diagnostic investigations in inherited constitutional pathologies.

Course contents

(Module 1)

1. Cystic Fibrosis: epidemiological, physiopathological and general clinical characteristics, laboratory diagnosis.
2. Hemoglobinopathies: sickle cell anemia, alpha- and beta-thalassemias - epidemiological, physiopathological and general clinical characteristics, laboratory diagnosis.
3. Triplet amplification diseases: fragile X syndrome, myotonic dystrophy Huntington's disease - general epidemiological, pathophysiological and clinical features, laboratory diagnosis.
4. Alzheimer's disease: epidemiological, physiopathological and general clinical characteristics, sporadic and familial forms, role of the laboratory.
5. Diseases caused by alterations of fundamental cellular pathways: mitochondrial diseases (mitochondriapathies), ribosomopathies, telomopathies, etc. examples and diagnostic pathways

 

(Module 2)

PRENATAL SCREENING TESTS

Screening tests (Bi and Tri- tests); NIPT (non invasive prenatal testing)

NEONATAL SCREENING

Principles and main application for phenylketonuria, congenital hypothyroidism, cystic fibrosis, widened screening.

GENETIC TESTING

Procedures and diagnostic applications for:

• o Biochemical techniques
• o Molecular techniques: Indirect genetic tests (length polymorphisms, SNP); Direct genetic tests (for known and unknown mutations): ARMS PCR, MLPA, southern blotting, Microarrays, Mass Array, CGH array, HRM, DHPLC.

LIQUID BIOPSY AND CIRCULATING TUMOR MATERIAL SEARCH: CELLS, DNA, RNA. Techniques and applications.

STEM CELLS FROM CORD BLOOD

Stem cells, selection and donation, harvest, fields of use.

LABORATORY TESTING FOR IN SUPPORT OF THE DIAGNOSIS OF CARDIOVASCULAR DISEASE

Markers of lipid profile and hypertension for the determination of cardiovascular risk; markers of acute myocardial infarction

Teaching methods

Frontal classes, discussion of papers or clinical cases.

Assessment methods

Oral exam on the completed program. The final grade for the integrated course Clinical Pathology II is the average of the grades obtained in the exams for Applied Clinical Pathology, Genetic Clinical Pathology, and Clinical Pathology Techniques 2.

Teaching tools

pdf files used in support of teaching will be available online on virtuale platform.

Office hours

See the website of Lorenzo Montanaro

See the website of Marianna Penzo