Human Genetics


• 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





Responsible teacher

António Sebastião Rodrigues


Weekly - 4

Total - 30

Teaching language



Available soon


• 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

1) Main Lectures: critical exposure of the contents of the course
2) Thematicals Theorics Lectures: analysis and discussion of specific topics with practical interest
3) Practicals: lab tecnics execution, risk calculation practice and scientific publication analysis

Evaluation method

Written Exam (EE) ≥9,50 = 10 = 80% final classification

No documents / books support allowed. Multiple choice questions on the subjects taught either in lectures or practical classes.
Written Exam is susceptible to Grade Improvement

Seminar (S): presentation / discussion (10 m / 5 m) of one of the proposed topics done by a group of 2-4 students of the same assigned practical class.

Evaluation criteria (S):
• Critical analysis of the topic
• Synthesis ability
• Bibliographic search
• Scheduled time  

Final classification of Genetics: 0.8 * EE + 0.2 * S (EE and S ≥ 9,50 = 10 )

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.


Programs where the course is taught: