At the end of the course, students should be able to:
Describe the types of genetic variation seen in the human genome and explain how these variations affect disease states and diversity of normal variation. Perform pedigree analysis and apply principles of inheritance in calculating genetic risk for a variety of genetic disorders and patterns of inheritance; and incorporate knowledge of population genetics to calculate genetic risk based on carrier frequency within a population. Explain and identify non-Mendelian mechanisms such as: reduced penetrance, variable expressivity, uniparental disomy, mosaicism, genomic imprinting and unstable repeat expansion. Understand the molecular basis of developmental and cancer genetics. Know the basic principles of Genetic counselling.
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, and the use of NGS techniques in order to identify the structural anomalies of the genome both in pre and postnatal settings.
The objective of the Course is to enable the student to acquire the basic notions for the critical evaluation and interpretation of the results of the main laboratory diagnostic techniques.
frontal teaching.
Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus
Frontal teaching.
Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus.
Polyclonal and monoclonal antibodies. Production techniques: Hybridomas and Phage Display
ELISA techniques
ELISPOT
Flow cytometric techniques
Western Blot
Immunofluorescence
Principles of Microarray and Sequencing
Examples of clinical applications of laboratory techniques
• The double helix structure
• Chromosomes structure and their morphology
• Classical Cytogenetics and banding techniques
• The caryotype and its diagnostic indications
• FISH analysis
• Array-CGH and pathogenic mechanisms of the CNVs
• Statistical analysis of array signals
• SNP-array
• Validation methods of genomic imbalances (MLPA, RealTime-PCR)
• The next generation sequencing approach
• The use of whole genome sequencing for the identification of genomic structural variants
Polyclonal and monoclonal antibodies. Production techniques: Hybridomas and Phage Display
ELISA techniques
ELISPOT
Flow cytometric techniques: basics; compensation; cell cycle study; analysis of apoptosis
Electrophoresis, isoelectric focusing, Western Blot, Western blot 2D
Immunofluorescence
Microarray patforms; normalization and preprocessing of raw data; first and next generation Sequencing;
Examples of clinical applications of laboratory techniques: serum proteins electrophoresis; autoantibodies
Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier
Medical Genetics (Jorde, Carey, Bamshad) fifth edition, Elsevier
1.Testo Atlante di Citogenetica Umana (Ventruto, Sacco, Lonardo)
2. Computational exome e genome analysis CRC press 2018
3. Teacher's documentation
Mauro Maccarrone. Metodologie Biochimiche e Biomolecolari. Zanichelli. 2019