This teaching course includes the following modules
Module
Molecular diagnostics
Credit
5
SDS
BIO/12
Description
Learning objectives: Knowledge of basic and advanced methodologies for the molecular analysis and for the identification of disease-associated genes Rationale of direct type genetic testing to detect disease-associated genetic variants; of indirect type genetic testing, to look at the segregation of a disease with genetic markers; of linkage analysis for identifying genome regions that are implicated in disease traits Interpretation of molecular results. Contents: 1 Introduction to molecular diagnostics. - Transmission mode and heterogeneity in genetic diseases. - Variable penetrance and expressivity Genotype-phenotype correlation. - Post-natal and prenatal diagnosis; genetic counseling. - Types of mutation Pathogenic mechanisms and validation of mutations. 2 Advanced methods for identifying genetic variants - Surveyor Nuclease, microarrays or DNA chips. - High-throughput DNA sequencing. - TP-PCR, MLPA, qPCR, CGH array. - Microsatellite instability. 3 Applied molecular diagnostics - Molecular diagnosis of monogenic inherited diseases. - Molecular diagnosis of genetically heterogeneous disorders. - Molecular diagnosis of triplet repeat disorders. - Molecular diagnosis of inherited cancers and hemolymphoproliferative diseases. - Molecular diagnosis of genomic imprinting-associated diseases. 4 Discussion of selected case studies and formal mode of reporting.
Module
Laboratory Medicine methods
Credit
5
SDS
MED/46
Description
Learning objectives: Students are expected to develop the critical capacity for using the most advanced laboratory methods (in addition to traditional biochemical markers) in order to assess human organs and tissues functionality. Contents: 1) The specialized laboratory of Clinical Biochemistry - Decision analysis. - Evidence Based Approach. - Clinic interface. 2) Examples of clinical biochemistry and molecular biology diagnosis integration in the clinical evaluation of organs and systems. - Integrated laboratory evaluation of liver function - Integrated laboratory evaluation of exocrine pancreas function Hereditary pancreatitis. - Integrated laboratory evaluation of cardiac activity abnormalities; the laboratory role in the diagnosis and prevention of cardiovascular diseases. - Integrated laboratory evaluation of kidney function - Hemostasis and coagulation: integrated diagnostics of hemophilia - Integrated laboratory evaluation of recessive diseases: Cystic Fibrosis
