2024
Human Genetics
Name: Human Genetics
Code: BIO12405L
3 ECTS
Duration: 15 weeks/78 hours
Scientific Area:
Biological Sciences
Teaching languages: Portuguese
Languages of tutoring support: Portuguese
Sustainable Development Goals
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.
Contents
Characteristics of nuclear and mitochondrial genomes. Population genetics. Mechanisms of occurrence of mutations and mechanisms for redress. Two genome diseases - mitochondrial citopathology. Complex diseases, degenerative diseases and the example of autism. Chromosomal diseases. Hereditary errors of metabolism of amino acids, lipids and carbohydrates. General notions of Nutrigenomics. The Nutrigenomics and cellular metabolism. Pharmacogenomics. Epigenetics. microRNAs. Gene Therapy. Ethics. Legislation. Genetic Counseling. Theoretical-practical: Case studies. Heredogramas analysis. Genetic databases. Biostatistics applied genetics to the Hardy-Weinberg equilibrium and association studies. Methods of analysis in human genetics. Application of Molecular genetic methods to the study of pathology and validation of pathogenicity of mutations. Methods of large-scale Genomics analysis
Teaching Methods
Different types of classes to promote learning and acquisition of competences:
Theoretical: lesson by Teacher, with active participation of the students;
Theoretic-practical: Discussion of case studies and problem based learning;
Debates: Discussion of a subject prepared by the students, with autonomous bibliographic search, moderated by the Teacher;
Oriented Seminars (SO): oral presentation of a subject, by the students in groups), with different formats.
The evaluation includes different components to allow a format type continuous evaluation, more complete and favoring acquisition and sedimentation of knowledge:
Test, MÁX 12 VAL
- Written test with 40 questions (2 Frequências/ 1 final exam; Recurso) Mark MÍN 9,5 in 20 VAL
- Quiz, MÁX 4 VAL (4 tests with 5 questions) Mark MÍN 9,5 in 20 VAL
- Other, MÁX 4 VAL
- Participation in debates
- Preparation of subjects
- Presentation in SO
- Registration of presence: presence obligatory in 75% of classes
Theoretical: lesson by Teacher, with active participation of the students;
Theoretic-practical: Discussion of case studies and problem based learning;
Debates: Discussion of a subject prepared by the students, with autonomous bibliographic search, moderated by the Teacher;
Oriented Seminars (SO): oral presentation of a subject, by the students in groups), with different formats.
The evaluation includes different components to allow a format type continuous evaluation, more complete and favoring acquisition and sedimentation of knowledge:
Test, MÁX 12 VAL
- Written test with 40 questions (2 Frequências/ 1 final exam; Recurso) Mark MÍN 9,5 in 20 VAL
- Quiz, MÁX 4 VAL (4 tests with 5 questions) Mark MÍN 9,5 in 20 VAL
- Other, MÁX 4 VAL
- Participation in debates
- Preparation of subjects
- Presentation in SO
- Registration of presence: presence obligatory in 75% of classes
Teaching Staff (2023/2024 )
- Ana Catarina Almeida Sousa [responsible]
