Genetics and Epigenetics

A basic knowledge of cellular and molecular biology, in particular regarding the structure and organisation of genetic material, nucleic acids, DNA replication, transcription, translation and the regulation of gene expression.

• Use of multimedia resources to develop lectures and interactive lessons, encouraging active student participation and discussion of the subject matter.
• Use of flipped learning, by making study materials and scientific resources available in advance, supplemented in class by discussion, application and in-depth exploration of the subject matter.
• Individual and collaborative problem-solving in Genetics, including cross-breeding, interpretation of heredograms, karyotype analysis and the resolution of cases relating to genetic disorders.
• Use of Problem-Based Learning (PBL) and case studies, promoting the integration of knowledge of Genetics and Epigenetics into situations relating to health, Dietetics and Nutrition.
• Carrying out group work, including research, analysis, synthesis and presentation of scientific information in the form of posters, oral presentations or other appropriate formats.
• Reading, critically analysing and discussing scientific articles, particularly in the fields of genetics, epigenetics, nutrigenetics and nutrigenomics.
• Viewing and guided discussion of documentaries and other audiovisual resources related to the course module’s content.
• Organisation of seminars and/or thematic sessions, with the participation of experts or guest lecturers, where appropriate to the course module’s content.
• Use of questionnaires and interactive learning activities to consolidate knowledge and assess it on an ongoing basis.
• Encouragement of independent learning through the provision of a reading list and other academic resources recommended at the start of the semester.
• Office hours available to students, at times set each semester or by appointment, to provide support and answer queries.

This course aims to enable students to acquire fundamental and applied knowledge of Genetics and Epigenetics, understanding the mechanisms of transmission, expression and regulation of genetic information, as well as its relationship with biological variability and the characteristics of the human organism.

By the end of the module, students should be able to:

• Understand and correctly use the terminology and fundamental concepts of genetics and epigenetics;
• Understand the mechanisms of transmission of genetic information, genetic variability and gene expression;
• Relate genetic and epigenetic alterations to phenotypic variability and the occurrence of diseases;
• To understand the influence of the interaction between genetic and environmental factors, including nutritional factors, on phenotypic expression;
• To recognise the importance of knowledge of genetics and epigenetics in the context of dietetics and nutrition;
• Develop skills in research, critical analysis, synthesis and communication of scientific information, using appropriate methodologies;
• Develop science communication skills, adapting language and communication methods to the target audience and communicating scientific concepts clearly, accurately and accessibly;
• Develop a critical approach to scientific information and the work carried out, recognising its limitations and implications;
• Demonstrate the ability to independently update and deepen knowledge in the field of genetics and epigenetics as applied to dietetics and nutrition.

THEORETICAL PROGRAM

1. Classical genetics
   • Fundamental concepts of genetics: gene, allele, genotype, phenotype, locus and homozygosity/heterozygosity.
   • Mendel’s laws and patterns of inheritance.
   • Segregation and independent assortment of alleles.
   • Analysis of genetic crosses and problem-solving.
2. Patterns of inheritance
   • Autosomal dominant and recessive inheritance.
   • X-linked inheritance.
   • Y-linked inheritance.
   • Mitochondrial inheritance.
   • Analysis and interpretation of pedigree charts.
3. Cytogenetics
   • Organisation and structure of chromosomes.
   • Cell cycle and cell division: mitosis and meiosis.
   • Morphology and classification of chromosomes.
   • Human karyotype and cytogenetic nomenclature.
   • Chromosomal abnormalities and mechanisms of non-disjunction.
4. Chromosomal disorders
   • Numerical chromosomal abnormalities: aneuploidies and polyploidies.
   • Structural abnormalities: deletions, duplications, inversions and translocations.
   • Major human chromosomal disorders.
   • Relationship between chromosomal abnormalities, phenotype and disease.
5. Genetic diversity and disease
   • Genetic variability and its origin.
   • Pathogenic sequence variations and the mechanisms underlying their occurrence.
   • Classification and functional consequences of genetic variants.
   • Benign, variant-of-unknown-significance and pathogenic variants.
   • Syndromic and non-syndromic genetic disorders.
6. Inherited metabolic disorders
   • Genetic basis of inherited metabolic disorders.
   • Main groups of disorders and pathophysiological mechanisms.
   • Relationship between genetic alterations, metabolism and clinical presentation.
   • Importance of nutritional intervention in inherited metabolic disorders.
7. Genetics applied to health
   • Genetic diagnosis and main methodologies.
   • Genetic screening and prenatal diagnosis.
   • Genetic counselling.
   • Interpretation of heredograms.
   • Gene therapy and new therapeutic approaches.
   • Ethical issues associated with the application of genetics in health.
8. Population genetics
   • Populations, gene pool and genetic variability.
   • Allele and genotype frequencies.
   • Hardy-Weinberg equilibrium.
   • Factors affecting allele frequencies in populations.
   • Applications of population genetics to human health.
9. Epigenetics
   • The concept of epigenetics and mechanisms of epigenetic regulation.
   • DNA methylation.
   • Post-translational modifications of histones.
   • Chromatin remodelling.
   • Non-coding RNAs and the regulation of gene expression.
   • X-chromosome inactivation.
   • Epigenetics, development and disease.
   • The influence of environmental and nutritional factors on epigenetic regulation.
10. Genetics and Nutrition
    • Concepts of nutrigenetics and nutrigenomics.
    • Gene-nutrient interaction.
    • The influence of genetic variability on the response to nutrients and diet.
    • The influence of nutrients and dietary patterns on gene expression.
    • Other ‘omics’ approaches: transcriptomics, proteomics and metabolomics.
    • The potential of genetics and epigenetics in personalised and precision nutrition.

THEORETICAL AND PRACTICAL PROGRAMME

1. Techniques for the analysis and handling of nucleic acids
   • Extraction and purification of DNA and RNA.
   • DNA amplification by PCR.
   • Electrophoresis of nucleic acids.
   • Analysis and interpretation of results from molecular biology techniques.
2. Solving and interpreting problems in genetics
   • Genetic crossbreeding.
   • Patterns of inheritance.
   • Interpretation of pedigree charts.
   • Allele and genotype frequencies.
   • Application of Hardy-Weinberg equilibrium.
   • Analysis of cases relating to genetic disorders.
3. Analysis and discussion of scientific information
   • Researching and selecting scientific information.
   • Critical reading and interpretation of scientific articles.
   • Analysis of cases relating to genetics, epigenetics and nutrition.
   • Presentation and discussion of scientific papers.

NAO