GENETICA MEDICA, TECNICHE DI CITOGENETICA E METODICHE DIAGNOSTICHE DI PATOLOGIA CLINICA

6 CFU - 1° Semester

Teaching Staff

TERESA MATTINA - Module Medica Genetics - MED/03 - 2 CFU
MARCO FICHERA - Module Cytogenetics - MED/03 - 2 CFU
MASSIMO LIBRA - Module Diagnostic Methods in Clinical Pathology - MED/46 - 2 CFU

Learning Objectives

Medica Genetics
the course aims at the acquisition of skills regarding genetic diseases, the genetic component of multifactorial diseases, genetic counseling, clinical approach, diagnostic techniques, genetic tests, ethical problems.
Cytogenetics
At the end of the course the student should be able to:

-understand the structure of the human genome and know the main mechanisms that may disrupt its architecture. To know the main techniques in the field of the classical and molecular cytogenetics in order to identify the structural anomalies of the genome both in pre and postnatal settings.
Diagnostic Methods in Clinical Pathology
The specific educational aims of the Course in Diagnostic Methods in Clinical Pathology are are to allow the students to acquire the basic notions for the critical evaluation and interpretation of the results of the main laboratory diagnostic techniques.

Course Structure

Medica Genetics
General information on genetic diseases. Frequency and clinical importance of genetic diseases. Genes and environment as a cause of illness. Malformative syndromes. Family trees Mendelian genetic diseases. Characteristics of autosomal dominant mendelian diseases. Characteristics of autosomal recessive mendelian diseases. Characteristics of X linked diseases, Dominant or Recessive Genetic heterogeneity. Digenic inheritance. Polygenic and multifactorial diseases. Epigenetics. Non-Mendelian inheritance: Imprinting, uniparental disomy. Dynamic mutations. Mitochondrial diseases. Chromosomal diseases, microdelection /microduplication disorders. Genomic variants. Balanced chromosomal alterations. Mosaicism. Loss of heterozygosity. Oncogenetics. Genetic counseling. Prenatal-postnatal diagnosis. Guidelines. Informed consent. Ethical problems.
Cytogenetics
Frontal teaching
Diagnostic Methods in Clinical Pathology
The teaching will be carried out through the provision of classroom teaching lessons plus laboratory exercises to be carried out in the laboratories of the Biological Tower in order to improve the theoretical and practical knowledge acquired during the hours spent in the classroom.

Detailed Course Content

Medica Genetics
1. General information on genetic diseases. Frequency and clinical importance of genetic diseases. Genes and environment as a cause of illness. Malformative syndromes.
2. Family trees Mendelian diseases. Characteristics of autosomal dominant mendelian diseases. Characteristics of autosomal recessive mendelian diseases. Characteristics of sex linked diseases, Dominant or Recessive.
3. Genetic heterogeneity. Digenic inheritance. Polygenic and multifactorial diseases. Epigenetics.
4. Imprinting, uniparental disomy. Dynamic mutations. Mitochondrial diseases.
5. Chromosomal diseases, chromosome microdelection /microduplication syndromes. Genomic variants. Balanced chromosomal alterations.
6. Mosaicism. Loss of heterozygosity. Oncogenetics.
7. Genetic counseling. Prenatal-postnatal diagnosis. Guidelines. Informed consent. Ethical problems.
8. Selection of the genetic tests.
Cytogenetics
• Molecular composition of the DNA • The double helix structure • Genes and the flow of genetic information • DNA mutations and their evolutionary • The different types of mutations • Constitutional and somatic anomalies • Chromosomes structure and their morphology • Meiosis and mitosis • Meiotic segregation and non-disjunction defects • Imprinting and uniparental disomy • Classical Cytogenetics and banding techniques • The caryotype and its diagnostic indications • Main chromosomal syndromes • FISH • Structure and polymorphisms of the human genome • Low-copy repeats and mechanisms of CNVs formation, recurrent genomic symdromes• Array-CGH and pathogenic mechanisms of the CNVs • Statistical analysis of array signals • SNP-array • Validation methods of genomic imbalances (MLPA, RealTime-PCR)
Diagnostic Methods in Clinical Pathology
-Techniques of laboratory medicine. ELISA assay (Enzyme-linked immunosorbent assay or an enzyme linked immunosorbent assay); Polyclonal and monoclonal antibodies; precipitation reactions; agglutination; The complement fixation reactions; immunoassays; immunofluorescence; flow cytometry.

-Tumor Markers. Definition and classification; diagnostic specificity and sensitivity; positive and negative predictive value; use of tumor markers in clinical practice; intermediate filaments as differentiation markers; leukocyte antigens and CD system.

TOPICS OF LESSONS

1. Diagnostics in Clinical Pathology

2. Immunoassay Test - ELISA

3. Use of polyclonal and monoclonal antibodies in

Laboratory Diagnostics

4. Precipitation reactions, agglutination and fixation

complement

5. Methods immunoassays

6. Leukocyte Antigens and CD system

7. The importance of tumor markers

8. Tumor markers in clinical practice

Textbook Information

Medica Genetics
1) Genetica umana e medica 4 edizione 2017 di Giovanni Neri e Maurizio Genuardi Masson

2) lectures notes
Cytogenetics
1.Testo Atlante di Citogenetica Umana (Ventruto, Sacco, Lonardo)
2. Teacher's documentation
Diagnostic Methods in Clinical Pathology
1) Ciaccio M e Lippi G: Biochimica Clinica e Medicina di Laboratorio. 2018, EdiSES

2) Giorgio Federici: Medicina di Laboratorio. 2008 Terza edizione. Mc Graw Hill libri Italia (Milano)

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