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GNA2042 · Human genetics

Official Handbook

2026 Handbook6 credit pointsLevel 2School of Biomedical Sciences

Last checked: 23 Aug 2026 UTC

Overview

This unit introduces the basic genetic principles underlying modern human genetics. Topics include: the central role of genes in the inheritance of traits, and the complex variation in inheritance patterns that arise due to interactions of genes with each other and the environment; the identification, characterisation and mapping of human genes; the value of model organisms in genetics; chromosome variation and its role in both evolution and human disease; how genes function and how genetic malfunction can lead to genetic disease; how an understanding of such diseases at the genetic level may assist in diagnosis, prevention and therapy; the genetic control of development; genetic counselling and calculating risk for genetic diseases; human evolutionary genetics.

Offerings

CampusTeaching periodMode
ClaytonSecond semesterActivities scheduled as a mix of on-campus and online activities (BLENDED)

Assessment

The Handbook lists an examination for this unit.

#AssessmentTypeWeightHurdle
1In-semester applied scenario test (1.5 hours)Quiz / Test15%
2Case study (1,500 words)Written30%
3Team oral presentation (20-25 mins + 2 x 250 words reflective piece)Presentation20%
4Applied scenario examination (2 hours and 10 mins) Examination35%

Assessment details may change. Please refer to the assessment information in Moodle closer to the start of the teaching period.

Requisites

prohibitions

  • GEN2041 — Foundations of genetics
  • GEN2052 — Genomics and population genetics
  • BMS2042 — Human genetics

Joined by AND.

Learning outcomes

  1. Apply your knowledge of genes, their inheritance and their interactions, to scenarios involving genetic disease, phenotypic variation and evolution.
  2. Critically analyse tools commonly used in genetic research including molecular techniques and model organisms, propose relevant applications of them and contrast their strengths and weaknesses.
  3. Analyse and interpret genetic observations and data using problem solving and mathematical skills.
  4. Communicate genetic concepts, research and data to diverse audiences in a professional manner, in written and/or audio-visual formats as an individual and in teams.
  5. Develop arguments that consider the ethical implications of genetic research and testing in public health.

Workload

An average of 6 hours of directed study per week, including 2 hours of lectures, 2.5 hours of lab and 1.5 hours of online activities. An average of 6 hours per week of self-directed study. Total per week = 12 hours.

ActivityDuration
Lectures28 hours
Laboratories26 hours
Assessments

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