Molecular diagnostic

A.Y. 2015/2016
Overall hours
BIO/12 BIO/13 MED/03 MED/17 MED/43
Learning objectives
Aims of this interdisciplinary course are to provide students with the knowledge of the technological evolution in diagnostic tests associated with several pathological conditions regarding particularly the application of molecular genetics, molecular cytogenetic and virology, knowledge of biochemical techniques and principles of analysis of the main biochemical parameters associated with the evaluation of pathological conditions of the organs, and the knowledge of legislation underlying molecular analysis. In particular, the course aims to illustrate the role of genetic testing in the clinical features of the patient and to provide students with the basic knowledge on the clinical aspects concerning genetic diseases
During the lessons will be also discussed issues relating to the appropriateness of the requests, the collection of the biological sample and the choice of appropriate analytical method to the request and the clinical context.
Expected learning outcomes
At the end of the course students will have acquired the ability to understand the current diagnostic strategies, to know the limits to set up quality control and to design new strategies based on biotechnology. Finally, the student will know the minimum requirements to setting up a laboratory for molecular diagnostics and to establish the accreditation and certification.
Course syllabus and organization

Single session

Lesson period
Third trimester
Biologia applicata
Course syllabus
Organization of the clinical molecular biology laboratory and basic concepts. Best Practices for Laboratory Quality Systems, and ISO 9000 certification.
Definition and classification of genetic testing. Genetic counseling and informed consent. Privacy and secret professional.
Genetic testing : meaning and classification. Appropriateness of a diagnostic test. Molecular tecniques (PCR, SSCP , DGGE, OLA, DHPLC, sequencing , microsatellites analysis/haplotypes, MLPA) Prenatal diagnosis , pre-implantation and non-invasive techniques : overviews and general considerations
The laboratory diagnosis for Muscular Dystrophy, Thalassemia, Cystic fibrosis and Parkinson's disease. Search for mutations of connexin 26 in sensorineural hearing loss.
Genetica medica
Course syllabus
Overview on conventional cytogenetic techniques and their applications in the study of the karyotype in pre- and post-natal diagnosis.
Overview on molecular cytogenetic techniques and their applications: identification and characterization of chromosomal/sub-chromosomal abnormalities, either constitutional and somatic. FISH on metaphases, nuclei and chromatin fibers, RNA-FISH. Immno-FISH on paraffin-embedded tissues.
Comparison between cytogenetic techniques, evaluation of different applicability and resolution.
Array CGH: conceptual bases, principles of operation and application in diagnostic. Resolution limits: balanced rearrangements, mosaic conditions . Structural variability of the human genome and its involvement in complex diseases and rare. Interpretative problems. DGV (database of a curated collection of structural variation in the human genome). Guidelines for molecular karyotyping in constitutional genetic diagnosis
Clinical cases (some of which are characterized by problems of interpretation).
Medicina legale
Course syllabus
Legal principles (basics revision); the biotechnologist professional liability; the damage; insurance; the figure and duties of the public official/civil servant ; the reporting of a crime; the code of ethics for biotechnologists ; certifications; professional secrecy ; the genetic data and its legal protection; the consent; the " Privacy Code2
Malattie infettive
Course syllabus
Aims to identify microrganisms
Classical and molecular techniques to diagnose infectious diseases.
Molecular typing of microorganisms: Clinical features, Molecular epidemiology of infectious diseases : meaning and aims.
Molecular evolution of the virus: Phylogenetic analysis in the study of infectious diseases and its applications: Molecular watches, Population dynamics , Study of the selective pressures - Examples
Biochimica clinica e biologia molecolare clinica
Course syllabus
General information on laboratory analysis; pre-analytical and analytical variables; Interpretation of laboratory data and biochemical report.
Enzymatic biomarkers: measurement, enzymes of diagnostic interest, enzymes mesurement organ-related
Cancer Biomarkers: classification ,clinical applications
Immunological biomarkers: autoantibodies
Biochimica clinica e biologia molecolare clinica
Lessons: 8 hours
Biologia applicata
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 2
Lessons: 16 hours
Professors: Marozzi Anna, Seia Manuela
Genetica medica
MED/03 - MEDICAL GENETICS - University credits: 1
Lessons: 8 hours
Professor: Finelli Palma
Malattie infettive
MED/17 - INFECTIOUS DISEASES - University credits: 1
Lessons: 8 hours
Medicina legale
MED/43 - FORENSIC MEDICINE - University credits: 1
Lessons: 8 hours