GENETICS OF DEVELOPMENT AND EPIGENETICS
cod. 1001309

Academic year 2024/25
1° year of course - Second semester
Professor
Riccardo PAPA
Academic discipline
Genetica (BIO/18)
Field
Discipline del settore biomolecolare
Type of training activity
Characterising
72 hours
of face-to-face activities
9 credits
hub: PARMA
course unit
in ITALIAN

Learning objectives

Part 1
The educational objectives of the course are:
To gain knowledge of the main model systems for studying complex processes such as development, differentiation, and cell division.
To acquire genetic concepts and methodologies, particularly those used in the genetic dissection of complex processes.
To develop the ability to understand and develop genetic and molecular genetic methods that can be usefully applied in biological, biomedical, and biotechnological research.
To develop the ability to frame scientific problems and experimental strategies suitable for achieving the set objectives.
To apply knowledge to solve specific problems in research contexts related to the field of study.
To achieve communication skills and independent judgment.

Part 2
By the end of the course, it is expected that the student:
Will have in-depth knowledge and understanding of genetic and epigenetic phenomena, and the mechanisms underlying the molecular changes associated with their deregulation.
Will be able to apply the acquired knowledge in the biomedical field.
Will have the ability to integrate knowledge of genetics and epigenetics.
Will be able to communicate clearly and unambiguously the knowledge and reasoning behind it to both specialist and non-specialist audiences.
Will be able to critically and independently analyze controversial issues and knowledge gaps in epigenetics.

Prerequisites

Knowledge of genetics, molecular genetics and biochemistry

Course unit content

Part 1
The course aims to address general topics in developmental genetics and analyze the genetic bases of developmental regulation. Concepts of population genetics and evolution will be revisited to understand the effects of genetic and epigenetic mutations on phenotypic variability. Examples from textbooks and recent scientific literature will be used to understand how genetic changes associated with the development of phenotypic traits can be identified and studied. Techniques necessary to identify mutations and molecular changes with consequences on the expression of phenotypic traits will be discussed.

Part 2
The course will focus on the study of epigenetic phenomena and the consequences in cases of deregulation of these through the study of model and non-model organisms. The molecular mechanisms underlying epigenetic phenomena will also be addressed. Genetic concepts will be revisited to compare genetic and epigenetic phenomena, particularly in relation to the pathological consequences of mutations and epimutations. Additionally, concepts related to cell differentiation and proliferation will be discussed, including techniques for characterizing molecular changes at the single-cell level. Finally, techniques for identifying and validating genetic and epigenetic defects will be covered, with possible workshops and tutorials for the analysis of complex genomic data.

Full programme

- Developmental Genetics
Advantages and Disadvantages of Model and Non-Model Organisms: Understanding the benefits and limitations of using different organisms for genetic research.
Overview of Developmental Genetics: A broad introduction to the field, covering fundamental concepts and principles.
Mutations and Their Contribution to Phenotypic Traits: How genetic mutations influence the development and manifestation of phenotypic characteristics.
Population Genetics: The study of genetic variation within populations and how it changes over time.
Selection, Adaptation, and Evolution of Functional Traits: The processes by which traits evolve and adapt through natural selection.
Genetic Architecture of Development: The complex interplay of genes and their regulation during development.
Genomic Organization and Evolution of Genes and Genomes: How genomes are structured and how they evolve over time.
Concrete Examples of Scientific Research in Developmental Genetics: Case studies and real-world research examples that illustrate key concepts in the field.

- Epigenetics
Epigenetics: What It Is and What It Studies: An introduction to the field of epigenetics and its focus areas.
Gene Expression and Regulation: How genes are turned on and off, and the mechanisms controlling this process.
DNA Methylation: Where, How, and Why It Happens: The process and significance of DNA methylation in gene regulation.
Techniques to Characterize Epigenetic Changes: Methods used to identify and study epigenetic modifications.
Techniques to Study Chromatin State: Tools and techniques for analyzing the structure and state of chromatin.
Three-Dimensional Genome Structure: Why It Matters: The importance of the spatial organization of the genome in regulating gene expression.
Non-Coding RNAs: The roles and functions of RNA molecules that do not encode proteins.
Cell Identity Specification: How cells acquire and maintain their specific identities.
Eukaryotic Regulation: Mechanisms of gene regulation in eukaryotic organisms.
Cellular Signals and Signal Transduction: The processes by which cells communicate and respond to signals.
Single-Cell Genomics Approaches: Techniques for studying genomic information at the single-cell level.

Bibliography

Presentations and teaching materials will be provided by the instructor. The course will use the following textbooks:

Futuyma, J. D., & Kirkpatrick, M. (2017). Evolution (4th Ed.). Sinauer, Sunderland, MA: Sinauer Associates.
Genetic Analysis: An Integrated Approach, 3rd edition. Published by Pearson (January 9, 2018) © 2019.
Barresi, M. J. F., Gilbert, S. F. (2018). Developmental Biology (11th ed., 2018).
Meneely, Analisi Genetica Avanzata, McGraw Hill.

The instructor will provide additional teaching materials, including scientific articles in English.

The instructor will provide further information during the course.

Teaching methods

During the lectures, genetic strategies and methodologies used to advance knowledge in the genetic dissection of complex processes will be presented and discussed. Class discussions aim to stimulate the ability to frame and deepen scientific issues, achieve communication skills, and foster autonomy of judgment and critical thinking. PowerPoint presentations will be shared with students via Elly. The articles used during the course will be shared in PDF format with all students. Topics presented in class will be the subject of group discussions to facilitate interaction and understanding of concepts, methodologies, and applications in the study of developmental genetics and epigenetics.

Assessment methods and criteria

The understanding of concepts and genetic methodologies used for the genetic dissection of complex processes in the development of phenotypic traits and the mechanisms underlying epigenetic phenomena will be evaluated along with the ability to apply this knowledge to solve specific problems. The student's critical judgment skills will be tested, requiring the use of appropriate scientific language. The examination method during the course will include written tests and group presentations.

Other information

Class schedule, course materials and exam sessions are available at the website http://scienzebiologiche.unipr.it