Lectures
Tutorials
Discussion groups
Guest lectures
Projects (e.g. case studies, poster presentation, research paper, group presentation)
Readings from scientific journal articles
1. Overview of Medical Genetics
- Introduction and history of medical genetics
- Principles of genetic counseling
- Introduction to population genetics
- Introduction to diagnosis and treatment of hereditary disorders
2. Overview of Human Genome
- Sequence and structure of human genome
- Technologies and applications of human genome in medical genetics
3. Genetic Testing
- Molecular methods
- Biochemical methods
- Cytogenetic methods
- Prenatal diagnosis and birth defects
- Ethical implications of genetic testing
4. Single Gene Disorders
- Underlying molecular mechanisms
- Genetic testing for single gene disorders
- Huntington disease
- Cystic fibrosis
- Duchenne muscular dystrophy
- Hereditary breast cancer
- Rett syndrome
- Management and treatment of single gene disorders
5. Multiple Gene Disorders and Spectrum Disorders
- Underlying molecular mechanisms
- Skeletal dysplasia
- Autism
- Developmental delay
- Mental retardation
- Management and treatment of multiple gene disorders
6. Epigenetic Abnormalities
- Underlying molecular mechanisms
- Genetic testing for epigenetic abnormalities
- Beckwith-Wiedemann syndrome
- Angelman syndrome
- Prader-Willi syndrome
- Management and treatment of epigenetic abnormalities
7. Chromosomal Abnormalities (Optional topic to be selected by instructor)
- Underlying causes
- Genetic testing for chromosomal abnormalities
- Down syndrome
- DiGeorge syndrome
- Williams syndrome
- Turner syndrome
- Management and treatment of disorders due to chromosomal abnormalities
8. Metabolic Disorders (Optional topic to be selected by instructor)
- Underlying molecular mechanisms
- Genetic testing for metabolic disorders
- Phenylketonuria
- Galactosemia
- Glycogen storage disease
- Lysosomal storage disorders
- Metabolic acidosis
- Peroxisomal disorders
- Urea cycle disorders
- Management and treatment of metabolic disorders
9. Mitochondrial Disorders (Optional topic to be selected by instructor)
- Underlying molecular mechanisms
- Genetic testing for mitochondrial disorders
- Mitochondrial myopathies
- Management and treatment of mitochondrial disorders and mitochondrial gene therapies
10. Genetic Medicine
- Gene therapy
- Personalized medicine
- Current trends in predictive medicine
- Ethical implications of predictive medicine
Upon completion of this course students will be able to:
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Explain the basic principles of human genetics and its medical applications
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Describe the underlying molecular mechanisms, diagnosis, treatment, and management of several hereditary disorders
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Discuss the sequence and structure of the human genome and explain its significance to medical genetics
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Describe and explain the modes of genetic testing and explore ethical issues surrounding it
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Discuss current trends in gene therapy, personalized medicine, and predictive medicine, and the issues surrounding these
- Analyze current scientific data and/or family histories and make appropriate diagnostic conclusions.
Evaluation will be carried out in accordance with Douglas College policy. The instructor will present a written course outline with specific evaluation criteria at the beginning of the semester. Evaluation will be based on the following:
| Evaluation | Marks |
| Quizzes and assignments | 20-30 |
| Group presentation/Case study report | 15-25 |
| Midterm examination | 20-30 |
| Final examination | 25-35 |
| TOTAL | 100 |
Students should consult the Douglas College Bookstore for the latest required textbooks and materials.
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