Biomedical Laboratory techniques

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

STEFANIA SCARPINO
RITA MANCINI

Activity type

Scienze biomediche

SSD

MED/04

Year

2nd year

Semester

1st semester

CFU

1

Hours distribution

10 classroom hours

Lecturers

MAURIZIO ALIMANDI

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

Activity type

Scienze medico-chirurgiche

SSD

MED/05

Year

2nd year

Semester

1st semester

CFU

1

Hours distribution

10 classroom hours

Lecturers

ANTONIO PAVAN

Activity type

Scienze interdisciplinari

SSD

SECS-S/02

Year

2nd year

Semester

1st semester

CFU

2

Hours distribution

20 classroom hours

Lecturers

Daniele Giansanti

Activity type

Scienze propedeutiche

SSD

INF/01

Year

2nd year

Semester

1st semester

CFU

1

Hours distribution

10 classroom hours

Lecturers

BASILE PAPASPYROPOULOS

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The course aims to provide students with introductory knowledge of the main analytical methodologies and instrumentation applied to molecular diagnostics.
At the end of the course the student will have to be able to critically evaluate the usefulness of the methodologies, the meaning of the data obtained from them, to be able to assess the analytical and biological circumstances that may lead to a wrong interpretation of the results, to relate them to different pathophysiological situations.
The module will focus on molecular diagnostics based on the study of nucleic acids.


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At the end of the course, students will be able to:
- Understand the principles of health informatics and its applications in clinical sciences.
- Acquire the basics of technological and methodological concepts for the use of digital tools and for the management of data and information in the field of health and clinical sciences.
- Know the regulations and standards related to digital health and health data protection.
- Understand the fundamental concepts of big data and big data analytics, decision support systems and artificial intelligence in the health sector.

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Understanding the cell pathophysiology


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The student must possess basic knowledge of physics, chemistry, biochemistry and cell biology.


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Interest in learning more about digital technologies and digital health applied to the healthcare context and in particular to Biomedical Laboratory Technicians.

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Chromosomal syndromes
Microsatellites
Talassemic diseases
Cistic Fibrosis
DNA repair



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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.



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Specific topics in health informatics and digital health:
- Principles of health informatics.
- Data, information and knowledge; structuring, representation and management of data.
- Basic concepts of information technology.
- Structuring and organization of information. Databases and data processing.
- Metainformation, big data and big data analytics, decision support systems, artificial intelligence, etc.

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Recommended reading
G.M. Pontieri - General Pathology and Pathophysiology II edition (for degree courses) -
and. Piccin.



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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


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Handouts and study material will be communicated by the teacher during the course and made available to students on the platform www.informaticamedica.matam.it.

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Recommended reading
G.M. Pontieri - General Pathology and Pathophysiology II edition (for degree courses) -
and. Piccin.



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The course is based on traditional lectures (three/four hours each).


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The lessons will be held in a face-to-face and interactive manner.

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75% of attendance to lessons


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Attendance in this course is mandatory.


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Mandatory attendance.

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Oral dissertation


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In order to pass the exam, students must score at least 18/30 on each one of the modules. The student must demonstrate that he has acquired sufficient knowledge of the topics covered by the course.
To achieve a score of 30/30 cum laude the student must demonstrate complete mastery of the course content, an excellent critical thinking ability, a clear and concise presentation of their ideas and an appropriate use of technical language.



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Oral examination on the topics covered during the course and presentation of a thematic analysis on a specific topic assigned by the teacher.

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1) The genome is identical in all cells, which is why molecular tests for mutations can be performed on any type of tissue
a) true.
b) only true for inherited mutations.
c) only true for acquired mutations.
d) false.

2) Which of the following definitions of 'phenotype' is correct?
a) the set of morphological and functional characteristics of an organism as they result from the expression of its genotype and environmental influences.
(b) the set of traits manifested by an individual that depend on its genotype.
c) the genetic constitution, hereditary inheritance of an individual.
d) none of the above.

3) SNP-type polymorphisms...
a) are length polymorphisms.
b) are commonly used in DNA fingerprinting.
c) have greater heterozygosity in the population than length polymorphisms.
d) are single nucleotide changes.

4) Direct genetic tests require...
a) limited allelic heterogeneity.
b) that there is familiarity of the disease phenotype.
c) that the mutation to be sought is a point mutation.
d) that the altered DNA sequence is known.

5) The non-specific search for mutations ...
a) makes it possible to detect mutations that differ in nature and position at a locus.
b) has sequencing as its final technique.
c) is a prerequisite for the direct search for specific mutations.
d) all of the above answers.

6) Which of the following reactions does not involve a hybridisation process between nucleic acid molecules?
a) amplification of DNA with DNA polymerase.
(b) reverse transcription of an RNA molecule.
(c) digestion of DNA with restriction enzymes.
(d) none of the above.


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Thematic analysis on a specific topic discussed during the lessons.

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