Unit MEDICAL GENETICS AND MOLECULAR MEDICINE

Course
Biomedical laboratory techniques
Study-unit Code
50998704
Curriculum
In all curricula
Teacher
Cristina Mecucci
CFU
4
Course Regulation
Coorte 2020
Offered
2022/23
Type of study-unit
Obbligatorio (Required)
Type of learning activities
Attività formativa integrata

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
  • 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 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
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.
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
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 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.
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.
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