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.

GENETICS

Code	50668601
CFU	1
Teacher	Paolo Prontera
Teachers	Paolo Prontera
Hours	16 ore - Paolo Prontera
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/03
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	The structural and functional organization of the human genome will be the premise to see the genome as a complex organ, whose physiology is needed to understand its pathology. We will then go on to illustrate the models with which the mutations originate, with which they are transmitted (mendelism and its exceptions), and then move on to the various levels of analysis of the genetic material (chromosomal, submicroscopic and molecular). In this context, the role that the geneticist plays in various capacities (biologist, biotechnologist or doctor) in medicine will be emphasized.
Reference texts	Genetica Umana e Medica, Neri e Genuardi, Masson, III edizione, 2014.
Educational objectives	Understanding the structural and functional organization of the genome. Acquire basic notions on chromosomal, genomic and monogenic pathologies. Understanding the models of the Mendelian heritage and its exceptions. Define the differences between genetic, polygenic and multifactorial pathologies. Acquire basic knowledge for the use of genetic tests in Medical Genetics (chromosomal analysis, use of the CGH-array, of sequencing). Acquire basic principles on prenatal cytogenetic diagnosis procedures and their applications.
Prerequisites	Basics of biology, phases of cell replication, mitosis and meiosis, definition of gene / allele, bases of molecular biology
Teaching methods	Frontal and theoretical-practical lessons
Other information	paolo.prontera@ospedale.perugia.it
Learning verification modality	Written exam, with 31 multiple choice questions, exclusively on the topics covered in class. Time available 45 minutes.
Extended program	INTRODUCTION - Structural and functional organization of genetic material - Genetics of transmission and expression - Germinal and somatic origin of hereditary characters - Genetics in Medicine HUMAN GENETICS - Cytogenetics - Numerical chromosomal anomalies - Structural chromosomal anomalies - Meiotic segregation structural anomalies - Cytogenetics beyond the visible: FISH / Array-CGH and their applications - The Human Genome after Sequencing - Mutations and gametogenesis: differences between the sexes - Molecular bases of chromosomal and genomic anomalies (CNV) - Uniparental disomy - Principles of Epigenetics - Simple Mendelian hereditary diseases - Diseases from mitochondrial DNA mutations MEDICAL GENETICS - Phenotypic effect of mutations: molecular interpretation of Mendelism, loss and acquisition of function, haploinsufficiency and negative dominance - Fundamental principles of medical genetics: pleiotropism; penetrance; expressiveness; genetic heterogeneity: allelic and locus - Interaction between genes: epistaxis; digenic, oligogenic pathology - Multifactorial characters: physiological and pathological CLINICAL GENETICS - Genetic counseling and genetic tests - Prenatal diagnosis of congenital defects of genetic origin

CLINICAL MOLECULAR MEDICINE

Code	50668701
CFU	1
Teacher	Cristina Mecucci
Teachers	Cristina Mecucci
Hours	12 ore - Cristina Mecucci
Learning activities	Caratterizzante
Area	Scienze interdisciplinari cliniche
Academic discipline	MED/15
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Genome study technologies. Concepts of epigenetics. Molecular diagnosis of congenital and acquired diseases. Molecular basis in the pathogenesis of tumors.
Reference texts	The material will be provided by Professor.
Educational objectives	Basic knowledge of genome study technologies, concepts of epigenetics, molecular diagnosis of congenital and acquired diseases and molecular bases in tumor pathogenesis.
Prerequisites	Knowledge of genetics, cytogenetics and biochemistry.
Teaching methods	Frontal lessons Seminars
Learning verification modality	Oral Exam
Extended program	Genome study technologies. Concepts of epigenetics. Molecular diagnosis of congenital and acquired diseases. Molecular basis in the pathogenesis of tumors.

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
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.
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.
Teaching methods	Theoretical lessons
Other information	Frequence: compulsory. Lessons are held at the classrooms of the School of Medicine and Surgery - Polo Didattico - Piazzale Lucio Severi
Learning verification modality	Multiple Answer Questionnaire. Learning verification is common for this teaching and that of Genetics. If the verification is to be carried out online, an oral questionnaire will be taken.
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.