GENETICS OF DEVELOPMENT AND EPIGENETICS
Learning outcomes of the course unit
Educational objectives of the course are:
- A thorough knowledge of the model systems for the study of complex processes such as development, differentiation and cell division;
- The acquisition of genetic concepts and methodologies, with particular regard to those used in the genetic dissection of complex processes;
- The ability to understand and develop methods of genetics and molecular genetics that may find useful applications in biological and biomedical research and in biotechnology;
- The ability to frame scientific issues and to identify experimental strategies to achieving the objectives;
- The ability to apply knowledge to solve specific problems in the context of research related to the field of study;
- The achievement of communication skills and independent judgment.
At the end of the course the student is expected to:
- possess in-depth knowledge and understanding of epigenetitic phenomena, of the mechanisms underlying epigenetic phenomena and defects associated with a deregulation of these;
- is able to apply the knowledge acquired in the biomedical field;
- has the ability to integrate the knowledge of genetics and epigenetics;
- know how to communicate clearly and unambiguously the knowledge and the rationale underlying them both to specialist and non-specialist interlocutors;
- know how to analyze critically and independently the controversial issues and the gaps in the knowledge of epigenetics.
Knowledge of genetics, molecular genetics and biochemistry
Course contents summary
The course aims to analyse the genetic basis for the regulation of development, differentiation and proliferation addressed through the study of unicellular and multicellular model organisms based on their characteristics.
The course will focus on the study of epigenetic phenomena and the consequences in the event of their deregulation. The molecular mechanisms underlying epigenetic phenomena will also be discussed.
Genetic concepts will be analyzed in order to make a comparison between genetic and epigenetic phenomena in particular in relation to the pathological consequences of mutations and epimutations.
Furthermore, some techniques used to identify genetic and epigenetic defects will be considered.
Eukaryotic model organisms.
Research and analysis of mutants of complex processes. The identification of genes. The reconstruction of the ways of functioning of complex processes:
cell cycle, the pheromone signaling pathway in S. cerevisiae, the early stages of Drosophila melanogaster,
programmed death (apoptosis) in Caenorhabtidis elegans.
Genome projects and reverse genetics.
Epigenetics: definitions and fields of study
DNA methylation: how, where and why.
Techniques to evaluate DNA methylation.
DNA methylation diseases.
Chromatin and histone modifications: how, where and why.
Mitotic and meiotic heritability of epigenetic markers.
Techniques to evaluate chromatin state.
Genome tridimensional structure: why is it important.
Non-coding RNA: miRNA, siRNA, piRNA and lncRNA.
Dosage compensation and X chromosome inactivation.
Epigenetic and environmental influences.
Epigenetic contribution in complex diseases.
Epigenetic contribution in cancer.
Course materials provided by the professor. Meneely Analisi Genetica Avanzata Mc Graw Hill.
The Professor will provide some teaching material, including scientific articles in English.
Chapters of genetics texts:
“Genetica & Genomica nelle scienze mediche” – Strachan et al - Zanichelli.
“Genetica” – Binelli Ghisotti - EdiSES.
Professor will provide additional information during the course.
During the lessons the genetic strategies and methodologies used for the advancement of knowledge in the genetic dissection of complex processes will be presented and discussed. The discussion aimes to stimulate the ability to frame and deepen scientific problems, achieve communication skills and to stimulate making judgment.
During the lessons the epigenetic phenomena, the underlying molecular mechanisms and the consequences of a deregulation of the epigenetic processes will be discussed, also highlighting the areas of uncertainty and knowledge gaps.
Genetic concepts will be resumed in order to make a comparison between genetic and epigenetic phenomena in particular in relation to the pathological consequences of mutations and epimutations.
Some methodologies used to study epigenetic phenomena will also be discussed.
Some scientific articles will be discussed in the classroom to stimulate the ability to frame and investigate scientific problems, to achieve communication skills and to stimulate independent judgment.
Assessment methods and criteria
The final verification provides an oral examination aimed at confirming the knowledge of the model systems, the concepts and methods used for the genetic advancement of knowledge in the genetic dissection of complex processes and the ability to apply knowledge to solve specific problems.
The final examination involves an oral examination aimed to verify the knowledge of epigenetic phenomena, the mechanisms underlying epigenetic phenomena and the defects associated with a deregulation of these. The ability to integrate the knowledge of genetics and epigenetics and the knowledge of the methodologies used for epigenetic studies will also be evaluated.
Problems will be posed to assess the ability to solve them, particularly in the biological or biomedical field, and to assess the student's independence of judgment.
The student should be able to use an appropriate scientific language.