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39310 - Clinical Pathology Genetics

Academic Year 2022/2023

                
                        Docente:
                        Lorenzo Montanaro
                    
                        Credits:
                        3
                    
                        SSD:
                        MED/05
                    
                        Language:
                        Italian
                    
                        Moduli:
                        
                            Lorenzo Montanaro
                            (Modulo 1)
                        
                            Marianna Penzo
                            (Modulo 2)
                        
                        Teaching Mode:
                        
                                    Traditional lectures (Modulo 1)
                                
                                    Traditional lectures (Modulo 2)
                                
                            Campus:
                            Bologna
                        
                            Corso:
                            First cycle degree programme (L) in
                            Biomedical Laboratory techniques (cod. 8484)

                            Teaching resources on Virtuale
                        
                                        Course Timetable
                                    
from Sep 28, 2022 to Nov 17, 2022

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

Frontal classes, discussion of papers or clinical cases

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