Unit DIAGNOSIS OF GENETIC AND HEMATOLOGICAL DISEAS

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
Sector	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

DIAGNOSIS OF HEMATOLOGICAL DISEAS

Code	A003232
CFU	3
Teacher	Paolo Sportoletti
Teachers	Paolo Sportoletti Filomena De Falco (Codocenza)
Hours	20 ore - Paolo Sportoletti 8 ore (Codocenza) - Filomena De Falco
Learning activities	Caratterizzante
Area	Scienze interdisciplinari cliniche
Sector	MED/15
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	The module in question is intended to bring to the attention of the student the most important hematologic disorders, new diagnostic tests and their correlation with specific diseases. Provides the necessary elements in order to interpret the meaning of changes in the main laboratory tests
Reference texts	MALATTIE DEL SANGUE E DEGLI ORGANI EMOLINFOPOIETICI- Sante Tura - Editrice ESCULAPIO - latest edition materials and/or assessment methodologies consistent with the needs of disabled and/or DSA students are available
Educational objectives	It aims to raise awareness and understanding of the student the meaning of laboratory tests for the purpose of major diseases. In particular, it aims to make early detection of diseases that may emerge from the evaluation of the laboratory tests at the end of the course the student should be able to use the acquired knowledge to identify the most common hematologic diseases
Prerequisites	N/A
Teaching methods	Lectures with presentation of reports and case studies that will give students the chance to meet with real cases in order to learn to be inferred from laboratory data sottese diseases and problems related to them. materials and/or assessment methodologies consistent with the needs of disabled and/or DSA students are available
Learning verification modality	The learning and the degree of preparation is checked by oral examination concerning the arguments discussed during the lessons. The students must demonstrate that they have acquired adequate knowledge and skills to recognize the main hematological diseases and related alterations of laboratory tests. The mark obtained for the Blood Diseases module will contribute to the final mark of the Clinical Sciences Course obtained by arithmetic mean between the marks reported in the individual modules of the Course. materials and/or assessment methodologies consistent with the needs of disabled and/or DSA students are available
Extended program	1) Hematopoiesis: concepts of general biology and laboratory techniques related to the identification and study of hematopoietic stem cells normal and pathological conditions. 2) leukemogenesis: general overview and pathogenetic mechanisms: laboratory tests related to diagnosis, prognosis, response to treatment and monitoring over time. 3) acute myeloid leukemia and acute leukemias LYMPHOID: generali. Esami concepts inherent laboratory diagnosis, prognosis, response to treatment and monitoring over time. 4) lymphoproliferative syndromes CHRONIC: general overview and differential diagnosis between the various lymphoproliferative diseases 5) chronic myeloproliferative disorders: general overview and differential diagnosis between the various myeloproliferative diseases
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Health and Wellness

GENETICS

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

GENETICS TECNIQUES

Code	A003231
CFU	1
Teacher	Cristina Gradassi
Teachers	Cristina Gradassi
Hours	12 ore - Cristina Gradassi
Learning activities	Caratterizzante
Area	Scienze e tecniche di laboratorio biomedico
Sector	MED/46
Type of study-unit	Obbligatorio (Required)
Language of instruction	italian
Contents	Phases of cytogenetic analysis - postnatal cytogenetic - prenata lcytogenetic - Limitation of cytogenetic investigation -Guidelines for the cytogenetics laboratory - quality in cytogenetic
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.
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Quality education