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Medical Genetics

Course Code: BIOL 4106
Faculty: Science & Technology
Department: Biology
Credits: 3.0
Semester: 15
Learning Format: Lecture, Tutorial
Typically Offered: TBD. Contact Department Chair for more info.
course overview

This course explores the principles of human genetics and its medical applications. The sequence and structure of the human genome and human genetic evolution will be examined before investigating molecular mechanisms of genetic diseases and disorders. Other topics will include population genetics, epigenetics, genetic testing, clinical applications of genetics and new genetic discoveries for disease treatment. Students will also engage in discussion of current primary research literature in the field of medical genetics.

Course Content

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

Methods of Instruction



Discussion groups

Guest lectures

Projects (e.g. case studies, poster presentation, research paper, group presentation)

Readings from scientific journal articles

Means of Assessment

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

Learning Outcomes

Upon completion of this course students will be able to:

  1. Explain the basic principles of human genetics and its medical applications

  2. Describe the underlying molecular mechanisms, diagnosis, treatment, and management of several hereditary disorders

  3. Discuss the sequence and structure of the human genome and explain its significance to medical genetics

  4. Describe and explain the modes of genetic testing and explore ethical issues surrounding it

  5. Discuss current trends in gene therapy, personalized medicine, and predictive medicine, and the issues surrounding these

  6. Analyze current scientific data and/or family histories and make appropriate diagnostic conclusions.

course prerequisites

BIOL 2321 and BIOL 3205 and one of BIOL 2103 or BIOL 1203 or BIOL 1209



curriculum guidelines

Course Guidelines for previous years are viewable by selecting the version desired. If you took this course and do not see a listing for the starting semester/year of the course, consider the previous version as the applicable version.

course schedule and availability
course transferability

Below shows how this course and its credits transfer within the BC transfer system. 

A course is considered university-transferable (UT) if it transfers to at least one of the five research universities in British Columbia: University of British Columbia; University of British Columbia-Okanagan; Simon Fraser University; University of Victoria; and the University of Northern British Columbia.

For more information on transfer visit the BC Transfer Guide and BCCAT websites.


If your course prerequisites indicate that you need an assessment, please see our Assessment page for more information.