Human Genetics

Code: BIO11474L

3 ECTS

Duration: 15 weeks/78 hours

Scientific Area: Biological Sciences

Teaching languages: Portuguese

Languages of tutoring support: Portuguese, English

Regime de Frequência: Presencial

Sustainable Development Goals

3. Saúde de qualidade - Assegurar uma vida saudável e promover o bem-estar para todos, em todas as idades.

4. Educação de qualidade - Assegurar a educação inclusiva, e equitativa e de qualidade, e promover oportunidades de aprendizagem ao longo da vida para todos.

5. Igualdade de género - Alcançar a igualdade de gênero e empoderar todas as mulheres e meninas.

8. Trabalho digno e crescimento económico - Promover o crescimento económico sustentado, inclusivo e sustentável, emprego pleno e produtivo, e trabalho decente para todos.

9. Indústria, inovação e infraestruturas - Construir infraestrutura resiliente, promover a industrialização inclusiva e sustentável, e fomentar a inovação.

Learning Goals

Give the students an integrated view of Human Genetics, demystifying the complexity of the individual, centered in the two genomes, bigenomic interaction and associated factors. Apply the basic concepts of Human Genetics to the interpretation of the mechanisms underlying Human Genetic Diseases. Analysis of case studies and methods for genetic analysis, stressing out the most recent and modern technologies. Analysis of ethical and legal issues related to Genetic tests. It is our intention that the students will be able to do autonomous search and that they will develop skills in the presentation, debate and discussion of subjects in the field of Human Genetics and study of Genetic pathologies.

Characteristics of nuclear and mitochondrial genomes. Populational Genetics. Mechanisms of occurrence of mutations and repair mechanisms. Diseases of the two genomes - mitochondrial cytopathies. Complex diseases, the example of degenerative diseases and autism. Chromosome disorders. Inherited errors of metabolism of amino acids, lipids and carbohydrates. General concepts of nutrigenomics. Nutrigenomics and cellular metabolism. Pharmacogenomics.
Epigenetics. microRNAs. Gene Therapy. Ethics. Legislation. Genetic Counseling.
Theoretical and Practical: Case studies. Analysis of pedigrees. Genetic databases. Biostatistics applied to the genetic Hardy-Weinberg and association studies. Methods of analysis in human genetics. Application of methods of molecular genetics to the study of disease and validation of the pathogenicity ofmutations.
Methods of large-scale genome analysis.

Teaching Methods

The course integrates diverse teaching methodologies:
Lectures: interactive oral exposition supported by audiovisual materials and open discussion;
Theoretical?practical sessions: analysis and discussion of scientific papers, clinical cases, films, and other pedagogical materials;
Debates: student-led discussion of selected genetic topics, moderated by the professor;
Guided seminars: group presentations based on recent scientific literature, fostering communication and critical analysis skills.

Assessment

Assessment is continuous and includes theoretical and practical components:
? Theoretical tests (2 exams): 30%;
? Theoretical?practical assessments (presentation and discussion of projects): 45%
? Public presentation: 25%;
? Minimum attendance: 75% of TP sessions.

Students who do not pass through continuous assessment may undertake a final individual examination covering all curricular contents.

Teaching Staff

Ana Catarina Almeida Sousa [responsible]

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