CODE 58028 ACADEMIC YEAR 2023/2024 CREDITS 2 cfu anno 2 MEDICINA E CHIRURGIA 8745 (LM-41) - GENOVA SCIENTIFIC DISCIPLINARY SECTOR BIO/11 LANGUAGE Italian TEACHING LOCATION GENOVA SEMESTER 1° Semester MODULES Questo insegnamento è un modulo di: ETIOLOGY AND PATHOGENESIS OF DISEASES TEACHING MATERIALS AULAWEB 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 AIMS AND LEARNING OUTCOMES 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. Students will also be engaged in discussions of the main topics of the course. SYLLABUS/CONTENT Genome comparative description: gene organization and distribution, multi-gene families, repetitive sequences, unequal crossing over, exon shuffling, transposons, pseudogenes. 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. 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. Transgenic animals production via microinjection and knock out method Organization ad regulation of gene expression. 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. The birth of induced pluripotent stem cells: methods of production and use in biomedicine and cellular therapies. Gene therapy: choice of candidate diseases, in vivo and ex vivo transfection techniques, viral and non-viral vectors, DNA vaccines. Most used clinical protocols all over the world. 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: Students may ask for explanations whenever they deem it necessary. They may write an email to soniscarfi@unige.it or by phone: 010 3350227. Scarfì's office it's located in Via A. Pastore 3 ( in front of Mente locale Bar), first floor through the fire escape. Exam Board WILLIAM BRUNO (President) VINCENZO DI PILATO (President) GUIDO FERLAZZO (President) PAOLA GHIORZO (President) GABRIELLA PIETRA (President) ALDAMARIA PULITI (President) SONIA SCARFI' (President) CINZIA MARIA DOMENICOTTI ANNA MARCHESE LORENZA PASTORINO GABRIELLA PIATTI CLAUDIA CANTONI (President and Coordinator of Integrated Course) LESSONS LESSONS START first week of october 2018 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 09/01/2024 08:30 GENOVA Orale 01/02/2024 08:30 GENOVA Orale 20/02/2024 08:30 GENOVA Orale 28/03/2024 08:30 GENOVA Orale 17/06/2024 08:30 GENOVA Orale 03/07/2024 08:30 GENOVA Orale 23/07/2024 08:30 GENOVA Orale 18/09/2024 08:30 GENOVA Orale 18/11/2024 14:00 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)