Studying online

There are now 2 possible online modes for units:

Units with modes Online timetabled and Online flexible are available for any student to self-enrol and study online.

Click on an offering mode for more details.

Unit Overview


This unit provides an overview of the etiology, diagnosis and management of genetic and epigenetic human diseases and provides a framework for understanding the human impact of these diseases. Increasingly, clinicians and medical scientists are required to ensure that genetic investigations yield results that meaningfully address the clinical question that is being asked. The unit offers insight into a range of testing options now available and also the clinical utility of these tests. It also offers insight into the management of families with hereditary disorders, and the range of therapies now emerging for an increasing number of human diseases arising from abnormalities of gene expression. The unit is suitable for students intending to go on to a career in medical research or graduate entry medicine and paraclinical sciences including genetic counselling.

6 points
(see Timetable)
Semester 1QEII Medical CentreFace to face
Details for undergraduate courses
  • Level 3 core unit in the Pathology and Laboratory Medicine; Genetics major sequences
  • Level 3 core unit in the Genetics specialisation in the Medical Science major sequence

Students are able to (1) understand the scope of human diseases arising from genetic and epigenetic disturbances; (2) have insight into clinical and laboratory processes required to diagnose genetic and epigenetic human disorders; (3) appreciate the range of pathogenic mechanisms contributing to the clinical manifestations of genetic diseases; (4) demonstrate skills in the clinical and laboratory assessment of small and large scale genomic variants; and (5) understand the range of therapeutic and preventative interventions available for constitutional and acquired genetic/epigenetic human diseases.


Indicative assessments in this unit are as follows: (1) case reports; (2) mid-semester test; and (3) examination. Further information is available in the unit outline.

Student may be offered supplementary assessment in this unit if they meet the eligibility criteria.

Unit Coordinator(s)
Dr Clayton Fragall
Unit rules
completion of Level 2 of a major in Pathology and Laboratory Medicine, Biomedical Science
or Genetics.
for pre-2012 courses: GENE2230 Molecular Genetics I
and GENE2250 Principles of Inheritance
GENE3320 Medical Genetics
Contact hours
lectures: 3 hrs per week
practical labs or tutorials: 3 hrs per week
  • The availability of units in Semester 1, 2, etc. was correct at the time of publication but may be subject to change.
  • All students are responsible for identifying when they need assistance to improve their academic learning, research, English language and numeracy skills; seeking out the services and resources available to help them; and applying what they learn. Students are encouraged to register for free online support through GETSmart; to help themselves to the extensive range of resources on UWA's STUDYSmarter website; and to participate in WRITESmart and (ma+hs)Smart drop-ins and workshops.
  • Unit readings, including any essential textbooks, are listed in the unit outline for each unit, one week prior the commencement of study. The unit outline will be available via the LMS and the UWA Handbook one week prior the commencement of study. Reading lists and essential textbooks are subject to change each semester. Information on essential textbooks will also be made available on the Essential Textbooks. This website is updated regularly in the lead up to semester so content may change. It is recommended that students purchase essential textbooks for convenience due to the frequency with which they will be required during the unit. A limited number of textbooks will be made available from the Library in print and will also be made available online wherever possible. Essential textbooks can be purchased from the commercial vendors to secure the best deal. The Student Guild can provide assistance on where to purchase books if required. Books can be purchased second hand at the Guild Secondhand bookshop (second floor, Guild Village), which is located on campus.
  • Contact hours provide an indication of the type and extent of in-class activities this unit may contain. The total amount of student work (including contact hours, assessment time, and self-study) will approximate 150 hours per 6 credit points.