CODE 58028 ACADEMIC YEAR 2016/2017 CREDITS 2 cfu anno 2 MEDICINA E CHIRURGIA (LM-41) - SCIENTIFIC DISCIPLINARY SECTOR BIO/11 LANGUAGE Italiano TEACHING LOCATION SEMESTER 1° Semester MODULES Questo insegnamento è un modulo di: ETIOLOGY AND PATHOGENESIS OF DISEASES OVERVIEW The aim of the course is to provide the students of the school of medicine with a detailed knowledge of the main aspects of the molecular biology: the genome analysis and the functional mechanisms of nuclear biomolecular processes with a focus to pathologies associated to malfunctioning of these processes. Furthermore, the course will focus on the description of the main methodological approaches used in the applied research of the biomedical molecular biology. AIMS AND CONTENT LEARNING OUTCOMES (FURTHER INFO) The course has the aim to build in the student of the medical school a detailed and critical knowledge of the molecular biology of the nuclear processes in the higher Metazoa. This should help in understanding that the malfunctioning of these delicate mechanisms is at the basis of numerous diseases. Furthermore, the student will develop competence in the most used molecular investigation techniques in the biomedical research laboratories. All the acquired concepts have the aim to develop in the student specific abilities in the acknowledgement of how diseases arise from molecular imbalances which bases, in the majority of cases, reside in the alteration of gene expression control, both due to genetic as well as epigenetic causes. TEACHING METHODS The course consists of 20 hours of classroom training with theoretical lessons on all topics of the program. SYLLABUS/CONTENT Genome comparative description: gene organization and distribution, multi-gene families, gene clusters on the same chromosome, repetitive sequences, unequal crossing over, exon shuffling, transposons, pseudogenes. Recombinant DNA. Plasmids and restriction endonucleases. DNA Ligase. Prokaryotic transformation. Genomic Libraries and screening assays. Nucleic acid hybridization and its employ in molecular diagnostics. DNA polymerase chain reaction (PCR), real time PCR and its employ in diagnostics. cDNA retrotranscription, DNA sequencing. Transfection and production of recombinant proteins. Replication accuracy and the consequence on the mechanical process of replication. Proof reading. DNA mismatch repair. Direct reversal. Nucleotide excision repair, base excision repair, double strand break repair and diseases arising from their defect. Molecular mechanisms of homologous recombination and non-homologous end joining in DNA double strand break repair. Organization ad regulation of gene expression, difference between prokaryotic and eukaryotic organisms. The eukaryotic transcription complex. Transcription factors, promoters, enhancers, insulators and Locus Control Regions (LCR). Schemes of histone modifications, maintenance and propagation. DNA methylation. Epigenetics mechanisms in cancer. Alternative splicing, RNA editing, messenger nuclear exportation and coherence control, RNA interference, microRNA and regulation of mRNA stability and initiation of translation. Gene therapy: choice of candidate diseases, in vivo and ex vivo transfection techniques, viral and non-viral vectors, DNA vaccines. RECOMMENDED READING/BIBLIOGRAPHY Alberts B, Johnson A, Lewis J et al. Biologia Molecolare della cellula, VI Ed, Zanichelli TEACHERS AND EXAM BOARD SONIA SCARFI' Ricevimento: By appointment taken directly with the teacher via telephone or email. telephone: 010 35338227 email: soniascarfi@unige.it Exam Board CLAUDIA CANTONI (President) GABRIELLA PIETRA (President) GIOVANNA BIANCHI EUGENIO DEBBIA ANNA MARCHESE GABRIELLA PIATTI MARIA ADELAIDE PRONZATO OLIVIERO VARNIER MARIA CRISTINA MINGARI (President and Coordinator of Integrated Course) LESSONS Class schedule The timetable for this course is available here: Portale EasyAcademy EXAMS EXAM DESCRIPTION Written test (20 multiple choice questions and one open question, all to be answered in 30 minutes) for the Molecular Biology section. The examination for the integrated course is made up of a single written exam for the 3 sub-sections. The total amount of time allowed for the examination is 90 minutes. The chance to carry out a supplementary oral examination is available both to students whose final average mark is between 16 and 17/30 and to those who wish to increase the mark (above 18/30) they obtained in the written examination. ASSESSMENT METHODS Students are assessed by a final exam alone which aims to ensure that they have actually reached the required level of knowledge. In order to pass the examination and to reach a mark of at least 18/30, the students must prove their knowledge on : -general mechanisms of inheritance, with particular attention to human heredity - fundamentals of molecular genetics mechanisms that underlie inheritance models . - basic features of the process and the Molecular Basis of the Mutation - medical applications of modern analytical techniques on molecular genetics and genomics Exam schedule Data appello Orario Luogo Degree type Note 13/04/2017 14:00 GENOVA Scritto 19/04/2017 14:00 GENOVA Orale 20/04/2017 14:00 GENOVA Orale 12/06/2017 10:00 GENOVA Scritto 19/06/2017 09:00 GENOVA Orale 20/06/2017 14:00 GENOVA Scritto 28/06/2017 10:00 GENOVA Scritto 03/07/2017 09:00 GENOVA Orale 11/07/2017 10:00 GENOVA Scritto 19/07/2017 09:00 GENOVA Orale 25/07/2017 14:00 GENOVA Scritto 11/09/2017 10:00 GENOVA Scritto 14/09/2017 09:00 GENOVA Orale 25/09/2017 10:00 GENOVA Scritto 26/09/2017 14:00 GENOVA Scritto 20/12/2017 09:00 GENOVA Orale FURTHER INFORMATION All the topics covered in class can be found in the ”aula web” slides. Any other, more in-depth material is mentioned at the end of the lesson and can be found in the “aula web” slides. https://www.aulaweb.unige.it Students must make an appointment to talk to professors.(e-mail phone)