Biology and Genetics

Recommended Prerequisites

The student should have knowledge on Biology and Chemistry corresponding to the 9th grade (high school), knowledge of mathematics corresponding to the 9 th grade and to be able to read and understand papers in English.

Teaching Methods

- Theoretical classes: lectures

- Theoretical and practical classes: to discuss proposed topics relates to Biology and Genetics and solve problems of genetic counselling

- Homework: training exercises and online search of specific themes to discuss in classes

Learning Outcomes

- To understand the basic biologic and genetic mechanisms responsible for the function,  differentiation and integration of the cell in the organism;

- To explain the biologic and genetic basis of human physiology, in its physical, mental and behavior aspects, understand its complexity and interindividual variability, as well as the biologic and genetic basis of dysfunctional phenotypes;

- To identify the role of the interdependence between inheritance and physical, biologic and social environment in the determination of phenotype;

- To identify the specificities of genetic counselling for each type of genetic phenotype (chromossomic, monogenic and multifactorial or complex)

Work Placement(s)

No

Syllabus

- Structure of the eukaryotic cell: cellular compartments and intracellular trafficking

- Basic biological mechanisms: from DNA to protein

- General principles of cellular signaling

 - Regulation of gene expression

- Cell cycle, mitosis, meiosis, gametogenesis and fertilization

- Chromosomal anomalies: balanced and unbalanced anomalies, mechanisms of formation, mosaicism

- Endocrine system: example of regulation of gene expression induced by internal and external environment, physical and behavior response to endocrine stimulation

- Human sexual differentiation

- Genetic variability: polymorphisms and mutations

- Mendelian inheritance: characteristics, risk calculations and genetic counselling

- Non-mendelian inheritance: mitochondrial inheritance, genetic imprinting and complex traits

- Human embryo development and congenital abnormalities

- Principles of genetic counselling

Head Lecturer(s)

Isabel Maria Marques Carreira

Assessment Methods

Assessment
Exam: 100.0%

Bibliography

- Biologia Molecular da Célula. Alberts et al. Artmed. 5ª edição, 2010 (Versão em Portugês do

Brasil).

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

- Genetics en Medicine: Thompson&Thompson, 8ª Edição

2. Slides de temas teóricos e teórico-práticos

3. Exercícios para autoformação e para resolver nas aulas práticas

4. Artigos