Biology and Genetics

Recommended Prerequisites

The student should have knowledge on Biology and Chemistry corresponding to the 11^th grade (high school), knowledge of mathematics corresponding to the 9 ^th grade and to be able to read and understand articles in English.

Teaching Methods

- Theoretical classes: lectures

- Theoretical and practical classes: to discuss proposed topics related to Biology and Genetics.

- Theoretical and practical classes: to discuss and solve problems of genetic counselling

- Homework: training exercises

- Scientific papers to analyse

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 normal behaviour, its complexity and variability, as well as the biologic and genetic basis of dysfunctional behaviour;
•  To identify the specificities of the cells involved in neurotransmission and to understand different mechanisms related to nervous transmission;
•  To identify the role of the interdependence between inheritance and physical, biologic and social environment in the determination of phenotype;
•  To select the appropriate methodology to evaluate the cause and the recurrence risk of abnormal phenotypes involving dysfunctional behaviour;
•  To identify the specificities of genetic counselling for each type of genetic disease (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

- General structure of the human nervous system.

- General principles of neurotransmission

- Cell cycle, mitosis, meiosis, gametogenesis and fertilization

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

- Genetic variability: polymorphisms and mutations

- Diagnostic methodologies in genetics and their application

- Mendelian inheritance: characteristics, risk calculations and genetic counselling

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

- Consanguinity and population genetics

- Congenital abnormalities: the example of mental delay

- Principles of genetic counselling.

Head Lecturer(s)

Isabel Maria Marques Carreira

Assessment Methods

Periodic
Theoretical and practical tests: 100.0%

Final
Exam: 100.0%

Bibliography

1. Books:

- Biologia Celular e Molecular. Carlos Azevedo. Lidel. 4ª edição, 2004.

- Molecular Biology of the Cell. Alberts et al. Garland Sci. 5th ed, 2008.

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

- Human Molecular Genetics 4; Tom Strachen&Andrew P. Read;

- Genética en Medicina: Thompson&Thompson, 5ª Edição

2. Papers:

 Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities. Sophia J Docherty, Yulia Kovas, Stephen A Petrill, Robert Plomin. BMC Genetics 2010, 11:61

- The future of genetics in psychology and psychiatry: Microarrays, genome-wide association, and non-coding RNA. Robert Plomin1 and Oliver S. P. Davis1. J Child Psychol Psychiatry. 2009; 50:63–71.