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 aims to provide medical students with a critical and in-depth knowledge of the molecular biology of the nuclear processes of higher organisms in order to understand how the malfunctioning of these delicate mechanisms, altering cellular homeostasis, leads to the onset of numerous diseases, according to the modern principles of the scientific method and medical research, including translational aspects. Furthermore, the student will acquire competence in the molecular investigation techniques most used in biomedical research laboratories. This knowledge has the aim of enabling the student to acquire specific skills in knowing how to recognize how diseases can always be traced back to molecular causes whose bases are in most cases due to alterations in the control mechanisms of gene expression, both due to genetic causes and epigenetics.

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.

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, shall reach out to the Lecturer(s) and to the dedicated SLD Representative in the Department before class begins, in order to liase and arrange the specific teaching methods and ensure proper achievement of the learning aims and outcomes.

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

Exam Board

WILLIAM BRUNO (President)

VINCENZO DI PILATO (President)

CINZIA MARIA DOMENICOTTI (President)

GUIDO FERLAZZO (President)

PAOLA GHIORZO (President)

GABRIELLA PIETRA (President)

ALDAMARIA PULITI (President)

SONIA SCARFI' (President)

ANNA MARCHESE

GABRIELLA PIATTI

CLAUDIA CANTONI (President and Coordinator of Integrated Course)

LESSONS

LESSONS START

Consult the detailed timetable at the following link: https://easyacademy.unige.it/portalestudenti/

Please refer to the specific AulaWeb instance of the course for any updates

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

The exam consists of an oral test and takes place in the presence of the course teachers. The interview lasts approximately 20-30 minutes (for the three modules of the integrated course) and focuses on the program carried out during the lessons. It may include interpreting family trees and doing simple genetics exercises. Through the discussion of various topics, the Commission verifies the achievement of the training objectives set by the course.

ASSESSMENT METHODS

Verification of learning takes place only through the final exam which aims to ascertain the actual acquisition by the student of the expected learning results.

The exam may include the resolution of formal genetics problems and the exposure of molecular genetics topics. The student must demonstrate knowledge of:

-The general bases of inheritance with particular attention to humans -The principles of molecular genetics that underlie Mendelian traits and diseases -The mechanisms that underlie gene mutations and its consequences.

-The epigenetic mechanisms underlying gene expression

- The genetic basis of cancer

-The main applications in the medical field of modern molecular genetics and genomic techniques (translational aspects) -The calculation of the risk of transmission of Mendelian pathologies -The consequences of genetic variability regarding the existing relationships between genotype and phenotype;

To pass the exam, the student must obtain a grade of no less than 18/30.

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, shall reach out to the Lecturer(s) and to the dedicated SLD Representative in the Department before class begins, in order to liase and arrange the specific teaching methods and ensure proper achievement of the learning aims and outcomes.

Exam schedule

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)