Human Genetics
Objectives
• Curiosity: the desire to discover the potential of genetics in medicine (... Wonderful and full of wonder).
• Comprehension: understand and master genetic mechanisms and their role in pathology.
• Competence: knowing how to apply models and methods of genetics to new situations.
• Capabilities: the ability to perform experimental tasks and search for information.
• Creativity: find grounds to criticize the assumptions and learn how to found new explanatory hypotheses of genetic phenomena.
General characterization
Code
11834
Credits
3.0
Responsible teacher
António Sebastião Rodrigues
Hours
Weekly - 4
Total - Available soon
Teaching language
Português
Prerequisites
Available soon
Bibliography
• Strachan T, Goodship J., Chinnery P. “Genetics and Genomics in Medicine”. Garland Science, 2015.
• Strachan T, Read A.P. “Human Molecular Genetics”, 4th edition. Garland Science, 2010.
•Nussbaum RL, McInnes RR, Willard HF. “Thompson & Thompson Genetics in Medicine”, 7th edition. Saunders, 2007.
•Regateiro FJ. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2007.
Teaching method
Available soon
Evaluation method
Available soon
Subject matter
Structure and Function of genes and Organization of the Human Genome:
• Organization of genes. Chromatin structure. Coding and non-coding regions.
• Regulation of gene expression. . Epigenetics.
• Orthologous and paralogous genes. Transposable elements.
Genes and Disease:
• Transmission patterns of autosomal recessive, dominant and X -related situations. Modifying expression factors . Clinical presentation and mechanisms of the most frequent mendelian conditions.
• Mutations and pre-mutations; trinucleotide expansion.
• Multifactorial inheritance.
• Cancer genetics.
• Interaction of genes with other genes and environmental factors and role in pathology. Epistasis.
Chromosomes and Chromosomal Pathology:
• Mechanisms of chromosomal alterations.
• Numerical and structural chromosomal abnormalitie, and mosaics. From cytogenetics to the clinical presentation.
Population Genetics:
• Gene frequencies in populations. Allelic frequencies and genetic drift. Effect of inbreeding and neo-mutations in frequency. Medical intervention and gene frequencies. Evolutionary principles to understand human biology and pathology.