2024

Human Genetics

Name: 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

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. 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

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

Teaching Staff

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