Molecular diagnostics

A.Y. 2017/2018
Lesson for
6
Max ECTS
42
Overall hours
SSD
BIO/12 MED/03 MED/07
Language
English
Learning objectives
This block concerns the study of molecular diagnostics including the study of the most relevant concepts regulating collection and specimen handling in laboratory medicine.
The aim of the course is to describe the principles of clinical management and identify the most relevant diagnostic tests to promote differential diagnosis in routine clinical practice, and perform the correct laboratory tests to exclude/confirm the diagnosis.
Beside that, an overview of basic concepts of specimen collection and storage, quality control and, more specifically, of the methodologies utilized in laboratory medicine to monitor enzymes, proteins, antibodies, bacteria and viruses and of methodologies for their phenotypic and genotypic detection. Furthermore, methodologies for histopathological assessment of biomarkers in cancer tissues and in pre and post-natal imprinting disorders will be introduced.
The ultimate aim is to make students more confident with tests performed in laboratory medicine.

Course structure and Syllabus

Active edition
Yes
Responsible
Clinical biochemistry
BIO/12 - CLINICAL BIOCHEMISTRY AND MOLECULAR BIOLOGY - University credits: 2
Lessons: 14 hours
Human genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 14 hours
Professor: Miozzo Monica Rosa
Microbiology
MED/07 - MICROBIOLOGY AND CLINICAL MICROBIOLOGY - University credits: 2
Lessons: 14 hours
Clinical biochemistry
Syllabus
Specimen collection and storage. Point of care testing and automation:
Recognize the importance of correct blood collection in managing total patient care;
Describe what is the correct specimen for the requested test;
Differentiate between whole blood, plasma and serum;
Describe the collection of serum sample;
Describe the collection of the urine sample;
Describe the collection of CSF;
Illustrate the stability of biological samples;
Understand and illustrate the core lab and the point of care testing.

The quality control in clinical laboratory:
Define the relevance of quality contol;
Define the type and rate of error in laboratory medicin;
Define methods for the analytical quality control;
Define accuracy and precision in laboratory medicine;
Define the analytical goal for precision;
Define the biological variability and reference intervals.

Cardiac monitoring in clinical laboratory and Biological fluids profiling:
Describe an ideal marker;
Discuss their kinetic of release, sensitivity and specificity;
Define biochemical markers for AMI;
Discuss the use of troponin in AMI management and define its limitations;
Define future markers;
Define why biological fluids should be profiled;
Describe the most innovative technologies for profiling biological fluids;
Discuss the signifincance and relevance of profiling results.

Diabetes diagnosis and monitoring in laboratory medicine:
Diabetic nephropathy micro and macro albuminuria;
Define renal clearance;
Urine analyses;
Glycated proteins assessment;
Define additional tests.

Serum biochemical markers for the diagnosis of skeletal muscle diseases:
Define enzymatic markers and their features;
Evaluate serum enzymogram to check tissue function and damage;
Known the biochemical assays that, in addition to molecular tests, lead to the diagnosis of Duchenne and Becker dystrophies;
Understand the laboratory pathway for the diagnosis of metabolic and storage muscle disorders

Tumour biomarkers:
Define the characteristics of the ideal tumour marker;
Indicate the tumour markers currently used in diagnosis and monitoring;
Understand the correct employment and limitations of tumour markers for diagnosis and management of patients;
Understand the role of reference ranges and decisional levels in tumour marker assays;
Understand the role of tumour markers for the therapeutic selection;
Define emerging cancer biomarkers;
Understand methodological approaches for the detection of circulating cancer cells.

Immunological biomarkers for the diagnosis and management of autoimmune disorders and allergies:
Define the autoantibody tests for the diagnosis and monitoring of autoimmune disorders;
Evaluate the inflammatory response through blood tests and parameters;
Define the laboratory diagnostic pathway for the diagnosis of systemic erythematous lupus, rheumatoid arthritis, celiac disease;
Define the novel diagnostic devices for the management of patients with autoimmune diseases;
Define the serological tests for the diagnosis of allergies.
Human genetics
Syllabus
From the histopathological evaluation to molecular profiling in cancer: Glioma:
Understand the possibility to detect mutations and methylation in glioma DNA useful for the clinical applications.;
Illustrate the methodologies that can be used in the molecular diagnosis;
Understand the analysis of the data and the medical report;
Presentation of clinical cases.

From the histopathological evaluation to molecular profiling in cancer: lung cancer:
Understand the possibility to detect mutations tumor DNA useful for the clinical applications;
Illustrate the methodologies that can be used in the molecular diagnosis;
Understand the analysis of the data and the medical report;
Presentation of clinical cases.

Molecular diagnosis (pre and post-natal) of imprinting disorders (IDs):
Illustrate the IDs involving one or multiple loci;
Illustrate the Epigenetic approaches for the diagnosis;
Clinical cases.
Microbiology
Syllabus
Bacterial identification of clinical isolates: from lab to the bedside. Phenotypic and genotypic methodology for bacterial detection:
Define the importance of clinical isolates;
Define the needs of Clinicians and Turn Around Time (TAT) Lab;
Evaluate the type of microorganisms and their incidence;
Define methods for phenotypic identification;
Define methods for genotypic identification;
Evaluate properly the molecular methodology for bacterial identification;
Define the antimicrobial susceptibility methods;
Evaluate the issues of the antimicrobial resistance.

Microbiota and Microbioma in large human ecosystems. Metagenomic analysis of bacterial microbiotas:
Define the general characteristics of human microbiota;
Describe the microbial connections in the human microbiota;
Understand the microbiota in health and disease;
Describe gut, oral and skin microbiota and their microbial content;
Define the role of microbioma and the interactions between microbes and immune system;
Describe the most relevant microbial clusters in the different disease conditions.

Climate changes, environment, microbes and human beings interplay in newly emerging viral infections:
To understand the viral origins and evolution;
To understand which exogenous factors (environment) and how are involved in the viral evolution;
To understand which endogenous factors (virus) and how are involved in the viral evolution ;
To understand which host factors and how are involved in the viral evolution;
To learn which are the emerging viral infections: Zika virus, Chikungunya virus, other Flaviviruses, Ebola virus .;
To understand which and why some viral infections are re-emerging.

Current technologies for the virological diagnosis (I):
To learn about the use of direct methods to detect the virus in the host: which, when and how;
To learn about the use of indirect methods to detect the virus in the host: which, when and how.

Current technologies for the virological diagnosis (II):
To learn about the diagnosis and monitoring methods of infections during pregnancy;
To learn about the diagnosis of the Central Nervous System Infections;
To learn about the diagnosis of Influenza and other respiratory infections.

Molecular approach for the discovery of new viruses and gene editing for cleaning up the viral infections:
To learn about the methods used for the human virus discoveries;
To understand the use of the Cell cultures and the electron microscopy;
To understand the use of Immunologic Methods to Detect unknown Viral Antigen;
To understand the use of Cross-hybridization to Identify Related Viruses;
To understand the use of Differential Display Strategy in Viral Pathogen Discovery;
To understand the development of digital transcriptome substraction;
To learn about the paradigmatic case of the human polyomaviruses discovery during the last ten years.
Lesson period
Third trimester
Lesson period
Third trimester
Assessment methods
Esame
Assessment result
voto verbalizzato in trentesimi