BIOLOGY AND GENETICS OF RARE DISEASES
Academic year and teacher
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- Versione italiana
- Academic year
- 2015/2016
- Teacher
- CORNELIUS FRANCISCUS BOERKOEL III
- Credits
- 5
- Didactic period
- Secondo Semestre
- SSD
- BIO/13
Training objectives
- Knowledge of the characteristics of human germline and somatic genetic and epigenetic diseases, including inheritance. Principles of causality. Patterns, penetrance, expressivity and disease mechanisms. At the end of the course the students will set a counseling of individuals and families with various types of genetic diseases.
Prerequisites
- General understanding of genetics and of human physiology. General understanding of the principles of health and disease
Course programme
- This is a discussion course in which students will be given readings on specific exemplary diseases. Each exemplary disease is chosen to illustrate inheritance patterns, penetrance, expressivity, disease mechanisms, principles of disease management and principles of genetic counseling.
Didactic methods
- Lectures
Learning assessment procedures
- Essay: 3 questions
Reference texts
- Thompson & Thompson Genetics in Medicine
Saunders; 8 edition (May 21 2015)
Practical Genetic Counselling
CRC Press; 7 edition (Aug. 27 2010)
Genomics and Health in the Developing World
Oxford University Press; 1 edition (May 11 2012)
Genetic Medicine: A logic of Disease
Johns Hopkins University Press; 1 edition (Aug. 28 2003)
The Story of the Human Body: Evolution, Health, and Disease
Vintage; Reprint edition (July 1 2014)
