Unit MEDICAL GENETICS AND MOLECULAR MEDICINE

MOLECULAR BIOLOGY AND RECOMBINANT TECHNOLOGIES

Code	50993101
CFU	1
Teacher	Paolo Gorello
Teachers	Paolo Gorello
Hours	12 ore - Paolo Gorello
Learning activities	Base
Area	Scienze biomediche
Academic discipline	BIO/12
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Selection of biological samples ( DNA, RNA and Proteins) and quality control analysis PCR: Theoretical bases and set-up of PCR reactions Database: nucleotide and amino acid sequences Molecular Cloning: Nested PCR, RACE-PCR, TA-Cloning, expression vectors and applications Real-Time PCR: Theoretical bases, Fluorogenic probes, endogenous housekeeping genes DNA sequencing and mutational analysis : Sanger method , Next Generation Sequencing and applications.
Reference texts	Slides and notes provided by teacher
Educational objectives	The main aim of this teaching is to provide students with the theoretical principles that are the basis of the most common techniques of molecular biology, in order to identify possible applications in diagnosis.
Prerequisites	The course requires basic knowledge of Biochemistry, Cell Biology and Genetics.
Teaching methods	Lectures on all subjects of the couse.
Learning verification modality	Written Test
Extended program	Selection of biological samples ( DNA, RNA and Proteins) and quality control analysis PCR: Theoretical bases and set-up of PCR reactions Database: nucleotide and amino acid sequences Molecular Cloning: Nested PCR, RACE-PCR, TA-Cloning, expression vectors and applications Real-Time PCR: Theoretical bases, Fluorogenic probes, endogenous housekeeping genes DNA sequencing and mutational analysis : Sanger method , Next Generation Sequencing and applications.
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Good Health and well-being

GENETICS

Code	50668601
CFU	1
Teacher	Paolo Prontera
Teachers	Paolo Prontera
Hours	12 ore - Paolo Prontera
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/03
Type of study-unit	Obbligatorio (Required)
Contents	.

CLINICAL MOLECULAR MEDICINE

Code	50668701
CFU	1
Teacher	Caterina Matteucci
Teachers	Caterina Matteucci
Hours	12 ore - Caterina Matteucci
Learning activities	Caratterizzante
Area	Scienze interdisciplinari cliniche
Academic discipline	MED/15
Type of study-unit	Obbligatorio (Required)
Contents	Genome study technologies. Concepts of epigenetics. Molecular diagnosis of congenital and acquired diseases. Molecular basis in the pathogenesis of tumors.
Educational objectives	Basic knowledge of genome study technologies, concepts of epigenetics, molecular diagnosis of congenital and acquired diseases and molecular bases in tumor pathogenesis

CLINICAL MOLECULAR MEDICINE

Code	50993001
CFU	1
Teacher	Cristina Gradassi
Teachers	Cristina Gradassi
Hours	12 ore - Cristina Gradassi
Learning activities	Caratterizzante
Area	Scienze e tecniche di laboratorio biomedico
Academic discipline	MED/46
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Phases of cytogenetic analysis Postnatal cytogenetics Prenatal cytogenetics Limitations of cytogenetic investigation Guidelines for the Cytogenetics laboratory. Quality in cytogenetics
Reference texts	The meterial provided by the teacher is enough to take the exam. For further information we reccomend the text : Ventruto, G. Sacco, F. Lonardo ,"Testo- atlante di Citogenetica Umana", Springer 2009. Materials are provided for the needs of disabled and/or DSA students.
Educational objectives	The course's main objective is learning by the student of the main techniques of classic cytogenetics in pre and post natal diagnosis. The main knowledge gained will thenbe related to: - praparation of cell cultures from variuos tissue and chromosome praparation - chromosomal banding techniques - chromosomal analysis - limitations of these technique In aditional, students will learn to deal with the reference guidelines and the concept of quality in the cytogenetics.
Prerequisites	It is important that the student has taken the biology course and taken the related exam.
Teaching methods	Theoretical lessons. Any particular teaching methodologies are foreseen for disabled and/or DSA students.
Other information	Frequence: compulsory. Lessons are held at the classrooms of the School of Medicine and Surgery - Polo Didattico - Piazzale Lucio Severi Students are received by appointment via email (cristina.gradassi@unipg.it) or by calling 0755783945 at the Medical Genetics Service (CREO building, floor -1)
Learning verification modality	Learning verification is common for this teaching and that of Genetics. There are generally 31 multiple choice questions. For the purpose of the evaluation, only the correct answers are considered valid and no reduction is made for the wrong or ungiven answers. The time available for the entire test is about 45 minutes. If the verification is to be carried out online, an oral questionnaire will be taken. There are learning verification methodologies that respond to the needs of disabled and/or DSA students.
Extended program	The various stages of he cytogenetic analysis: taking and acceptance of sample, cell coltures, techniques of chromosome preparation, microscope analysis, report. Postnatal cytogenetic: chromosome analysis of peripheral blood, bone marrow, tissue biopsies. Prenatal cytogenetic: chromosome analysys of amniotic fluid, chorionic villi, fetal blood, abortions. Limits cytogenetics investigation: hints of molecular cytogeneticsand molecular biologyin pre and postnatal diagnosis. Guidelines for the cytogenetics laboratory Quality in cytogenetics.