BIOS 3014 Genes, Genomics and Human Health

Credit Points 10

Legacy Code 300820

Coordinator Graham Jones Opens in new window

School Science

Discipline Genetics

Student Contribution Band HECS Band 2 10cp

Check your HECS Band contribution amount via the Fees page.

Level Undergraduate Level 3 subject

Pre-requisite(s) BIOS 2018 OR
BIOS 2026 OR
BIOS 2014 OR
BIOS 2021

Learning Outcomes

On successful completion of this subject, students should be able to:
  1. Describe the structure of the human genome and common genetic variants in the genome
  2. Explain the mechanisms by which the integrity of the human genome is maintained and relate errors in these pathways to human health
  3. Compare and contrast the genetic basis of rare single-gene Mendelian disorders with common complex multi-gene disorders
  4. Describe methods of genetic analysis as applied to single gene and multi-gene disorders
  5. Evaluate the role of genetics in exploring the relationship between lifestyle, the environment, and common human diseases
  6. Gather information, plan, complete and analyse experiments in molecular genetics

Subject Content

1. Genomes and genetic variation: comparative analysis genomes; the human genome project; defining genetic variation; examining how genetic variation can identify individuals and populations
2. The origins of genetic variants in the human genome: mechanisms that maintain the integrity of the human genome; errors in DNA repair that are associated with disease
3. Epigenetics and health: X-inactivation and imprinting
4. Rare and common genetic variants: Mendelian and non-mendelian inheritance of disease; exploring the relationship between genotype and phenotype
5. Genetic analysis: single-gene and whole-genome approaches; designing a study to search for a genetic basis of disease
6. Genetic basis of common diseases: asthma; obesity; dementia; the effect of lifestyle and the environment
7. Cancer: heritable and non-heritable cancer; breast cancer and melanoma
8. Pharmacogenomics: correlating drug response to individual genotype; prediction of therapeutic response based upon individual genotype
9. Human ethics


The following table summarises the standard assessment tasks for this subject. Please note this is a guide only. Assessment tasks are regularly updated, where there is a difference your Learning Guide takes precedence.

Item Length Percent Threshold Individual/Group Task
Quiz 1 hour 15 N Individual
Literature Review 2000 words 30 N Individual
Report 1500 words 25 N Individual
Professional Task 2000 words 30 N Group

Prescribed Texts

  • Human Molecular Genetics, 4th Edition, 2011 Tom Strachan and Andrew Read, Garland Science

Teaching Periods




Subject Contact Graham Jones Opens in new window

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Parramatta - Victoria Rd


Subject Contact Graham Jones Opens in new window

View timetable Opens in new window