METHODS OF MOLECULAR DIAGNOSTICS AND STATISTICS Single channel
Chair (Coordinator) and Rapporteur: RITA MANCINI
Module 1: TECHNIQUES OF MOLECULAR BIOLOGY
- Activity type
- Scienze e tecniche di laboratorio biomedico
- SSD
- MED/46
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 2
- Hours distribution
- 20 classroom hours
- Lecturers
- RITA MANCINI
STEFANIA SCARPINO
Module 2: GENERAL PATHOLOGY
- Activity type
- Scienze biomediche
- SSD
- MED/04
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 10 classroom hours
- Lecturers
- MAURIZIO ALIMANDI
Module 3: CLINICAL BIOCHEMISTRY AND CLINICAL MOLECULAR BIOLOGY
- Activity type
- Scienze della prevenzione e dei servizi sanitari, Scienze e tecniche di laboratorio biomedico
- SSD
- BIO/12, BIO/12
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 2
- Hours distribution
- 20 classroom hours
- Lecturers
- MICHELE ZAMPIERI
Module 4: CLINICAL PATHOLOGY
- Activity type
- Scienze medico-chirurgiche
- SSD
- MED/05
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 10 classroom hours
- Lecturers
- VINCENZO VISCO
Module 5: STATISTICS FOR RESEARCH
- Activity type
- Scienze interdisciplinari
- SSD
- SECS-S/02
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 2
- Hours distribution
- 20 classroom hours
- Lecturers
- Daniele Giansanti
Module 6: COMPUTER SCIENCE
- Activity type
- Scienze propedeutiche
- SSD
- INF/01
- Year
- 2nd year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 10 classroom hours
- Lecturers
- Daniele Giansanti
Learning outcomes
The course aims to teach the student the fundamental notions necessary for a correct and adequate laboratory activity in order to guarantee organization, efficiency and quality. technical-diagnostic situations.
Prerequisites
The course aims to:
-provide the cultural skills necessary to perform molecular analysis methods using both manual and automated procedures and high-tech instrumentation;
-focus students on the use of molecular and cellular biology in the clinical field and how these methods can provide important diagnostic information to complement clinical biochemistry laboratory analyses;
-provide basic knowledge of the causes and pathogenetic mechanisms of major molecular diseases in humans.
Programme
Module: TECHNIQUES OF MOLECULAR BIOLOGY
N/D
Module: GENERAL PATHOLOGY
DNA disorders: gene, genomic, and chromosomal mutations.
Genetic pathology overview
Chromosomal syndromes.
Microsatellite expansion disorders.
DNA repair. Cancer-prone syndromes.
Thalassemia, cystic fibrosis, sickle cell anemia.
Related diagnostic techniques.
Module: CLINICAL BIOCHEMISTRY AND CLINICAL MOLECULAR BIOLOGY
Definition and scopes of Clinical Molecular Biology in diagnosis.
Small scale mutations, point mutations, repeat expansion mutations and large-scale mutations.
Basic molecular methods necessary to diagnostic molecular analyses of nucleic acids. Isolation of nucleic acids. Restriction enzymes and their use in DNA sequence analysis. Southern and Northern blotting. PCR-based techniques (PCR, RT-PCR and quantitative PCR).
Molecular Biology in the diagnosis of genetic diseases. Direct and indirect genetic testing. Analysis of DNA polymorphisms. Sequence (SNPs, RFLP) and length (VNTR, STR) DNA polymorphisms.
Methods for the detection of known mutations (ASO, reverse dot-blot, ARMS-PCR). Methods for searching for unknown mutations (DGGE, ASO, SSCP, DNA sequencing).
Examples of molecular tests used to diagnose and monitor specific genetic diseases (cystic fibrosis, hemoglobinopathies, muscular dystrophies, fragile X syndrome). Forensic applications of molecular biology.
Module: CLINICAL PATHOLOGY
N/D
Module: STATISTICS FOR RESEARCH
N/D
Module: COMPUTER SCIENCE
N/D
Books
Module: TECHNIQUES OF MOLECULAR BIOLOGY
N/D
Module: GENERAL PATHOLOGY
Suggested Manual
G.M. Pontieri - Patologia e fisiopatologia generale (per le Professioni Sanitarie)
ed. Piccin.
Module: CLINICAL BIOCHEMISTRY AND CLINICAL MOLECULAR BIOLOGY
Lecture notes
Kaplan JC., Delpech M. Biologia molecolare e medicina. Idelson-Gnocchi.
Strachan T., Read A. Genetica molecolare umana. Zanichelli.
Molecular Diagnostics: For the Clinical Laboratorian (2nd edition) by William B. Coleman and Gregory J. Tsongalis. Humana Press
Module: CLINICAL PATHOLOGY
N/D
Module: STATISTICS FOR RESEARCH
N/D
Module: COMPUTER SCIENCE
N/D
Bibliography
Module: TECHNIQUES OF MOLECULAR BIOLOGY
N/D
Module: GENERAL PATHOLOGY
G.M. Pontieri - Patologia e fisiopatologia generale (per le Professioni Sanitarie)
ed. Piccin.
Module: CLINICAL BIOCHEMISTRY AND CLINICAL MOLECULAR BIOLOGY
N/D
Module: CLINICAL PATHOLOGY
N/D
Module: STATISTICS FOR RESEARCH
N/D
Module: COMPUTER SCIENCE
N/D
Lessons mode
oral exams
Frequency
mandatory
Exam mode
oral exams
Example exam questions
NA
Arguments
Module: TECHNIQUES OF MOLECULAR BIOLOGY
N/D
Module: GENERAL PATHOLOGY
Module: CLINICAL BIOCHEMISTRY AND CLINICAL MOLECULAR BIOLOGY
N/D
Module: CLINICAL PATHOLOGY
Module: STATISTICS FOR RESEARCH
N/D
Module: COMPUTER SCIENCE
N/D
- Academic year2026/2027
- Degree program to which the course belongsBiomedical Laboratory techniques - Roma Azienda Ospedaliera Sant’Andrea
- Languageita
- CFU9 CFU, distributed among 6 integrated didactic modules
- Total duration90 hours