Molecular diagnostics

A.A. 2024/2025
Crediti massimi
Ore totali
BIO/12 MED/03 MED/07
Obiettivi formativi
This course is based on 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.
Risultati apprendimento attesi
Aim of this course is to make the students more confident with the tests performed in laboratory medicine.
Corso singolo

Questo insegnamento non può essere seguito come corso singolo. Puoi trovare gli insegnamenti disponibili consultando il catalogo corsi singoli.

Programma e organizzazione didattica

Edizione unica

Terzo trimestre

'Clinical biochemistry:
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.

Diagnosing rare diseases: problematics and tracing.
Biochemical and molecular markers and laboratory approaches for the diagnosis of some rare diseases.
Non-invasive prenatal tests for rare diseases.
Current research approaches for improving the diagnosis of rare diseases.
Focus on childhood leukodystrophies.

Human genetics:
Specimen collection for genetic analyses
Types of genetic tests and their specific applications (diagnostic, predictive, presymptomatic, carrier, neonatal screening, pharmacogenetic, prenatal testing)
Methods to identify DNA variants: DNA sequencing (Sanger, NGS) and RNA sequencing; MLPA and Q-PCR for detection of copy-number variants; Third generation sequencing
NGS applications: gene panels, clinical exome, whole exome sequencing and whole genome sequencing
Bioinformatic analyses of NGS data, filtering strategies and variants of unknow significance (VUS)
Genetic test reports, NGS limits and incidental findings
NGS application in oncogenetics and prenatal tests (NiPT)
Microsatellite analysis for paternity and DNA fingerprint tests
Methodologies to detect pathological microsatellites in repeat expansions disorders
Methylation tests in repeat expansion diseases and imprinting disorders

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.
The student is strongly advised to have acquired basic knowledge in biochemistry, general physiology and general pathology.
Metodi didattici
Teaching method based on interactive lessons supported by projected material. Students will be stimulated to actively participate to the lesson / discussion to improve their critical skills, analyzing the literature and communicating the concepts appropriately. Frequency mode: strongly recommended.
Materiale di riferimento
Nader Rifai, Andrea R . Howarth, Carl T. Wittier. Tiers textbook of Clinical Chemistry and Molecular Diagnostics . Elsevier, 2018.
Modalità di verifica dell’apprendimento e criteri di valutazione
Written exam with multiple choice questions, to be held in an hour of time. It consists of 30 questions
Each question/exercise achieves 1 point. The test is passed if the score total is equal to or greater than 18. The correction of the task is done independently by the course owner and the evaluation is based on the presence of errors or inaccuracies, There are no intermediate tests or pre-tests. The test results are provided electronically through the University web system

The correction of the task is done independently by the course owner and the evaluation is based on the presence of errors or inaccuracies, There are no intermediate tests or pre-tests. The test results are provided electronically through the University web system.
Moduli o unità didattiche
Clinical biochemistry
Lezioni: 14 ore

Human genetics
Lezioni: 14 ore
Docente: Ratti Antonia
Docente: Ratti Antonia

Lezioni: 14 ore
Docente: Delbue Serena
Docente: Delbue Serena

su appuntamento
Lunedì dalle 10 alle 13
previo appuntamento da concordare via e-mail o telefonicamente
Istituto Auxologico Italiano, Via Zucchi, 18 - 20095 Cusano Milanino (Mi)
su appuntamento tramite telefono/e-mail
via F.lli Cervi 93- LITA Segrate