PATH3305 Medical Genetics

6 points
(see Timetable)
Semester 1QEII Medical CentreFace to face
Details for undergraduate courses
  • Level 3 core unit in the Pathology and Laboratory Medicine major sequence
  • Level 3 option in the Genetics major sequence
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.
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) assignments; (2) case reports; and (3) a three-hour end of semester written examination. Further information is available in the unit outline.

Supplementary assessment is not available in this unit except in the case of a bachelor's pass degree student who has obtained a mark of 45 to 49 overall and is currently enrolled in this unit, and it is the only remaining unit that the student must pass in order to complete their course.
Unit Coordinator(s)
Assistant Professor Clayton Fragall
Unit rules
completion of Level 2 of a major in Pathology and Laboratory Medicine, Biomedical Science
Genetics; for pre-2012 courses: GENE2230 Molecular Genetics I
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.
  • Books and other material wherever listed may be subject to change. Book lists relating to 'Preliminary reading', 'Recommended reading' and 'Textbooks' are, in most cases, available via the Booktopia Textbook Finder, which has the functionality to search by course code, course, ISBN and title, and may also be posted or available at the appropriate school's administrative offices. Where texts are listed in the unit description above, an asterisk (*) indicates that the book is available in paperback.