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 - 28

Teaching language



Not defined


• 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

28 hours of theoretical lectures. 
Evaluation will include a written examination and a group seminar (maximum of 3 students) (60:40). 


Evaluation method

The assessment will comprise a final exam and a group seminar. Minimum grade will be ≥9,50 = 10 

Written Exam (EE) = 60% final classification 
Without consultation. Questions with multiple choice questions. 
Written Exam is subject to grade improvement. 

Seminar (S) = 40% final classification 
Seminar (S): Presentation / discussion (15 minutes / 5 minutes) of topics for groups of up to 3 students. 

Evaluation Criteria (S): 
• Critical analysis 
• Capacity of Synthesis 
• Bibliographic search 
• Time Compliance 

Admission to Seminary requires: 
• Reception of a presentation summary (maximum 250 words) 7 days before the date of the presentation. 

The seminar is not subject to grade improvement. 
The grade of the seminar can be carried over to the next year if the student has had approval ≥9,50 = 10 

Subject matter

Introduction and organization of the genome

Cytogenetics and chromosomal disorders

Heredity Patterns

Human genome sequence variants

Gene expression and its regulation

Mendelian diseases

Multifactorial Diseases - Genetic Susceptibility

DNA damage and repair and repair deficit syndromes

Nutrigenetics and Nutrigenomics

Pharmacogenetics revisited and case studies

Formal and Population Genetics

Infectious diseases and host genetics

Gene Therapy


Programs where the course is taught: