Genetics

Cellular and Molecular Biology and Biochemistry

The theoretical classes aim to provide a structured and in-depth presentation of the curricular contents of the Genetics course, using teaching methodologies that promote active student participation. The objective is for students to acquire an integrated understanding of the principles of Genetics, with a comprehensive perspective applied to health sciences and clinical practice.

Throughout the classes, and with the support of diverse teaching materials, students will be given the opportunity to apply theoretical concepts in theoretical–practical contexts. To this end, scientific articles and relevant clinical cases will be analysed, addressing different patterns of inheritance, genetic and chromosomal alterations, as well as the interpretation of genetic tests, with relevance to students’ future professional practice.

Digital resources will also be used, including genetic databases and multimedia content, in order to reinforce the understanding of genetic mechanisms and their clinical applicability. In addition, worksheets and formative activities will be implemented, allowing students to receive immediate feedback on their learning progress and to identify areas requiring further consolidation or in-depth discussion during class.

The student should acquire knowledge, skills, and competencies that enable them to:

Understand the growing role of Genetics in the diagnosis, prognosis, and follow-up of patients within different medical specialties.

Understand the principles underlying the main genetic and molecular biology methodologies, in order to be able to select, design, and implement the most appropriate laboratory strategy for identifying the genetic basis of different diseases.

Distinguish between different types of genetic tests, recognizing their indications, limitations, and technical specificities.

Evaluate the clinical implications of the results obtained, as well as their applicability in the context of diagnosis, prognosis, and therapeutic decision-making.

Understand the principles and procedures associated with genetic counselling consultations, including ethical, legal, and clinical practice considerations.

Recognize the importance of close and effective collaboration between the laboratory and healthcare professionals as a fundamental element in the provision of high-quality healthcare.

Develop scientific reasoning, critical thinking, and evidence-based decision-making skills.

1. Fundamentals of Classical Genetics

Concept of gene, allele, and locus

Genotype versus phenotype

Mendel’s experiments

Laws of inheritance

2. Deviations from Mendelian inheritance

Regulation of gene expression (brief review)

Incomplete dominance

Codominance

Epistasis

Linkage and recombination

Penetrance

3. Modes of inheritance

Autosomal dominant and autosomal recessive inheritance

X-linked and Y-linked inheritance

Mitochondrial inheritance

Clinical examples

4. Applied Molecular Genetics

From gene to disease: mutations and functional consequences (brief review)

Protein structure–function relationship (brief review)

Types of mutations

Polymorphisms versus pathogenic mutations

5. Genome and chromosome organization

Prokaryotic versus eukaryotic genome (brief review)

Organization of human chromosomes

Sex chromosomes

Dosage compensation

6. Cytogenetics

Mitosis versus meiosis (brief review)

Genetic variability

Chromosome morphology and classification

Human karyotype

Cytogenetic techniques

7. Genetic alterations and pathology

Numerical chromosomal abnormalities

Structural chromosomal abnormalities

Genetic syndromes (relevant examples)

Monogenic versus multifactorial diseases

8. Clinical genetics and intervention

Genetic screening

Genetic diagnosis

Prenatal and preimplantation genetic diagnosis

Genetic counselling

Basic ethical issues

9. Population Genetics

Hardy–Weinberg equilibrium

Genotypic, phenotypic, and allelic frequencies

Factors affecting genetic equilibrium

10. Gene Therapy and Genome Editing

Concept and historical background of gene therapy

Somatic versus germline gene therapy

Gene therapy strategies

In vivo and ex vivo approaches in gene therapy

Genome editing technologies

Clinical applications and approved therapies (selected examples)

Ethical, legal, and regulatory considerations associated with gene therapy

Continuous Evaluation:

Two written tests will be conducted (100% – 20 points): a minimum grade of 9.5/20 is required in each assessment, with a final average of 9.5/20.

NOTE: All assessment components are mandatory.

Exame Evaluation:

 One written exam will be conducted incorporating all programatic content (100%- 20 points) 

NAO