Ateneo - UPO

Molecular methods applied to genetic diseases and to the identification of risk factors in Clinical Pathology.
Provide a basic knowledge of pharmacogenetics.

Teaching Material provided by the lecturer.
Lecturer's Monograph.

Provide a specific knowledge of the molecular methods applied to genetic diseases and the identification of risk factors as part of the Clinical Diagnostics.
Provide a basic knowledge of pharmacogenetics.

Basic knowledge of Chemistry and Biochemistry; good knowledge of Molecular Biology and Genetics

PowePoint presentation.
Teaching Network on DIR Website.
Frontal lessons.
Laboratory exercises.

Multiple choice test

A) Description of the genetic tests most commonly used in Clinical Pathology for:
the diagnosis, the monitoring, the susceptibility and pharmacogenetics.
Advantages and disadvantages of each.
In particular, the following molecular biology techniques are described:
 Real Time PCR (FRET probes)
 hybridization with ASO (Allele-Specific Oligonucleotide)
 Pyrosequencing
 DNA Microarray
 Mass spectrometry for the nucleic acids analysis (Sequenom)

B) Clinical significance of the genetic tests.
 Diagnosis of Disease
 Confirmation of a clinical suspicion
 identification of healthy carriers (families at risk, population-based screening)
 prenatal screening

C) Clinical applications of the molecular diagnostics.
1.Hemochromatosis and Thalassemia (alpha and beta). In particular, pathophysiological, biochemical and molecular bases of these pathologies are described.
2.Detection of genetic risk factors. In particular, pathophysiological, biochemical and molecular bases of the thrombophilia are described.
3.Pharmacogenetics and its clinical applications.