Genetics I

Recommended Prerequisites

Molecular and Cellular Biology; Biochemistry; English.

Teaching Methods

Theoretical classes.  Pratical classes for resolution of problems: genetic diagnosis and genetic couselling. Home work problems for training (e-learning). 

Learning Outcomes

- Understand and discuss scientific papers on genetics

- Perform self-learning and keep up-to-date in the genetic field

- Wok in team and perform peer presentation and discussion

- Understand and correctly apply genetic concepts and lexicon

- Use some of the most common genetic public databases

- Explain the complexity of human genome and of gene expression regulation

- Explain the molecular mechanisms of normal variability and disease

-  Apply the specificities of monogenic and multifactorial diseases to the geneticc couselling and to the risk evaluation of transmission of these diseases, as well as to their prevention.

- Select the apropriate methodolology for diagnosis of genetic diseases and understand the accuracy and difficulties of each method.

-  Identify ethical and legal problems of genetic counseling.

Work Placement(s)

No

Syllabus

The human genome. Regulation of gene expression (from the pre-transcriptional level, including epigenetic mechanisms, to the post-translational). DNA variations; impact and nomenclature.  DNA repair mechanisms. Molecular pathology and phenotype-genotype correlation. Molecular diagnosis – assays, applications, and limitations. Mendelian and non- Mendelian (mitochondrial, genomic imprinting, multifactorial) inheritance– examples, molecular mechanisms, risk calculation, and genetic counselling. Inbreeding and population genetics. Ethics and law in Genetics.

Head Lecturer(s)

Henriqueta Alexandra Mendes Breda Lobo Coimbra Silva

Assessment Methods

Final assessment
2. Only final assessment of the entire subject (100%), to be carried out in the EN or ER: 100.0%

Continuous assessment
Two options: 1st assessment (theoretical and practical) – to be carried out in practical classes; includes 40% of the matter: 40.0%
- 2nd evaluation (theoretical and practical), on the remaining subject, will be carried out in the 1st exam period (EN); 60%. The weighted average of the two ratings must be > or = 9.45: 60.0%

Bibliography

Livros:

- Human Molecular Genetics 5ª Ed; Tom Strachen&Andrew P. Read;

-Thompson&Thompson, Genetics in Medicine, 8ª Edição

- Manual de Genética Médica. F.J. Regateiro. Imprensa da Universidade, Coimbra, 2003.

- Identificação de Factores de Risco e Prevenção das Anomalias Congénitas; Jorge M. Saraiva

2. Slides das aulas

3. Exercícios de autoformação

4. Artigos científicos (a anunciar).