Genetics II

Recommended Prerequisites

Molecular and Cellular Biology; Biochemistry; English.

Teaching Methods

Theoretical and TP classes, mainly lectures for introducing and explain theory and give some examples .  Pratical classes for resolution of problems: genetic diagnosis and genetic couselling. Home work problems for training (e-learning). 

Learning Outcomes

- Perform the three levels' prevention of genetic diseases (chromosomic, monogenic and complex);

- Identity phenotypes associated with chromosomal abnormalities, perform the diagnosis and evaluate the risk of recurrence and to the descendants;

- Use genomics data bases and on line platforms to assist patients management and genetic counselling

- Perform differential diagnosis between chromosomic, monogenic and complex diseases, using appropriate methodologies, and understand their specificities

- Identify monogenic cancer and plan the management of these families

- Describe the role of molecular tests to evaluate cancer diagnosis and therapy selection

- Apply pharmacogenomics tests to improve therapy personalization.

Work Placement(s)

No

Syllabus

- Bases of genetic counselling, type of genetic diagnosis and genetic testing

- Chromosomic abnormalities: phenotypes, methodologies of diagnosis; genetic counselling, aneuploidies screening.

- Congenital abnormalities: classification, etiology and prevention.

- Carcinogenesis. Molecular profile (somatic variants, germline variants, liquid biopsy) applied to diagnosis, prognosis and therapy selection.

- Monogenic vs. multifactorial cancer: breast and ovarian cancer, colorectal cancer, retinoblastoma, and Li Fraumeni syndrome.

- Inborn errors of metabolism: with fetal manifestations; with neonatal manifestations, and with adult manifestations. Examples: mucopolysaccharidoses; phenylketonuria, familiar hypercholesterolemia familiar; hemochromatosis, MODY.

- Pharmacogenomics and therapy personalization.  Therapies of genetic diseases. 

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

Bibliography

Livros:

- Human Molecular Genetics 5; 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).