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CYTOGENETICS AND MEDICAL GENETICS

Academic year and teacher
If you can't find the course description that you're looking for in the above list, please see the following instructions >>
Versione italiana
Academic year
2022/2023
Teacher
MICHELE RUBINI
Credits
8
Didactic period
Primo Semestre

Training objectives

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Modulo: 53789 - TECNICHE DI CITOGENETICA
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Knowledge of the principles of medical and molecular genetics and medical cytogenetics, knowledge of the technologies used in molecular genetics and cytogenetics laboratories, and the setting up of genetic tests in the setting of laboratory diagnostics in genetics. Choice and appropriateness of genetic testing.

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Modulo: 53790 - TECNICHE DI GENETICA MOLECOLARE
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Knowledge of the principles of medical and molecular genetics and medical cytogenetics, knowledge of the technologies used in molecular genetics and cytogenetics laboratories, and the setting up of genetic tests in the setting of laboratory diagnostics in genetics. Choice and appropriateness of genetic testing.

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Modulo: 56371 - CITOGENETICA E GENETICA MEDICA
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Knowledge of the principles of medical and molecular genetics and medical cytogenetics, knowledge of the technologies used in molecular genetics and cytogenetics laboratories, and the setting up of genetic tests in the setting of laboratory diagnostics in genetics. Choice and appropriateness of genetic testing.

Prerequisites

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Modulo: 53789 - TECNICHE DI CITOGENETICA
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Basic knowledge of general and human genetics, cytology and molecular biology.

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Modulo: 53790 - TECNICHE DI GENETICA MOLECOLARE
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Basic knowledge of general and human genetics, cytology and molecular biology.

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Modulo: 56371 - CITOGENETICA E GENETICA MEDICA
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Basic knowledge of general and human genetics, cytology and molecular biology.

Course programme

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Modulo: 53789 - TECNICHE DI CITOGENETICA
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UNIT OF: CYTOGENETICS AND MEDICAL GENETICS
Chromosomes: structure and composition of the eukaryotic chromosome, cell-cycle.
The human karyotype. Primary and secondary constrictions, telomeres, centromeres, karyogram.
Elements of chromosome pathologies and variation in chromosome number.
The structural organization of the human genome: repetitive DNA, gene structure.
Elements of molecular genetic pathology.
Elements of forensic genetics.
DIAGNOSTIC APPROACHES IN LAB and PRACTICAL APPLICATIONS
Recessive Monogenic disease (X-linked Hemophilia)
Dominant Monogenic disease (von Willebrand disease)
Polygenic and multifactorial disease (inherited or familial thrombophilia)
Hemoglobinopathies
Cancer genetics and Lab strategies (from Cytogenetics to Molecular Genetics).
Pharmacogenetics and Pharmacogenomics
Choice, accuracy, and appropriateness of genetic testing (Why, When, Whom?): Lab strategies and applications; Gene-Banks and online-tools.

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Modulo: 53790 - TECNICHE DI GENETICA MOLECOLARE
------------------------------------------------------------
UNIT OF: CYTOGENETICS AND MEDICAL GENETICS
Chromosomes: structure and composition of the eukaryotic chromosome, cell-cycle.
The human karyotype. Primary and secondary constrictions, telomeres, centromeres, karyogram.
Elements of chromosome pathologies and variation in chromosome number.
The structural organization of the human genome: repetitive DNA, gene structure.
Elements of molecular genetic pathology.
Elements of forensic genetics.
DIAGNOSTIC APPROACHES IN LAB and PRACTICAL APPLICATIONS
Recessive Monogenic disease (X-linked Hemophilia)
Dominant Monogenic disease (von Willebrand disease)
Polygenic and multifactorial disease (inherited or familial thrombophilia)
Hemoglobinopathies
Cancer genetics and Lab strategies (from Cytogenetics to Molecular Genetics).
Pharmacogenetics and Pharmacogenomics
Choice, accuracy, and appropriateness of genetic testing (Why, When, Whom?): Lab strategies and applications; Gene-Banks and online-tools.

------------------------------------------------------------
Modulo: 56371 - CITOGENETICA E GENETICA MEDICA
------------------------------------------------------------
UNIT OF: CYTOGENETICS AND MEDICAL GENETICS
Chromosomes: structure and composition of the eukaryotic chromosome, cell-cycle.
The human karyotype. Primary and secondary constrictions, telomeres, centromeres, karyogram.
Elements of chromosome pathologies and variation in chromosome number.
The structural organization of the human genome: repetitive DNA, gene structure.
Elements of molecular genetic pathology.
Elements of forensic genetics.

Didactic methods

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Modulo: 53789 - TECNICHE DI CITOGENETICA
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Course lessons include lectures/streaming/recorded lessons referred to all subjects of course program.

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Modulo: 53790 - TECNICHE DI GENETICA MOLECOLARE
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Course lessons include lectures/streaming/recorded lessons referred to all subjects of course program.

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Modulo: 56371 - CITOGENETICA E GENETICA MEDICA
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Course lessons include lectures/streaming/recorded lessons referred to all subjects of course program.

Learning assessment procedures

UNIT OF: CITOGENETICA E GENETICA MEDICA
Oral examination about the main topics of the didactic program.

Reference texts

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Modulo: 53789 - TECNICHE DI CITOGENETICA
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UNIT OF: CITOGENETICA E GENETICA MEDICA
-T. Strachan, J. Goodship, P. Chinnery. Genetica & Genomica; Zanichelli.
-Thompson & Thompson. Genetica in Medicina; EdiSES.

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Modulo: 53790 - TECNICHE DI GENETICA MOLECOLARE
------------------------------------------------------------
UNIT OF: CITOGENETICA E GENETICA MEDICA
-T. Strachan, J. Goodship, P. Chinnery. Genetica & Genomica; Zanichelli.
-Thompson & Thompson. Genetica in Medicina; EdiSES.

------------------------------------------------------------
Modulo: 56371 - CITOGENETICA E GENETICA MEDICA
------------------------------------------------------------
UNIT OF: CITOGENETICA E GENETICA MEDICA
-T. Strachan, J. Goodship, P. Chinnery. Genetica & Genomica; Zanichelli.
-Thompson & Thompson. Genetica in Medicina; EdiSES.