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 - 28
Teaching language
Português
Prerequisites
Not defined
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
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