Overview

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Academic contacts

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Offerings

MURDOCH-S1-FACE2FACE-2025-ONGOING

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Requisites

Prerequisite

Other learning activities

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Learning activities

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Learning outcomes

1.

Demonstrate an understanding of the principles and applications involved in identifying a range of genetic states and disorders, utilising contemporary diagnostic techniques.

2.

Generate, compile, intepret and report healthy and pathological genetic information in both oral and written formats using standardised nomenclature.

3.

Integrate multiple sources of genetic investigations with patient histories to formulate diagnoses and treatment strategies.

4.

Reflect on the ethical and regulatory framework within which Diagnostic Genomics is conducted.

Assessments

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Additional information

Unit content:

The field of molecular pathology is currently advancing exponentially with the advent of new technologies such as Next Generation Sequencing providing a greater understanding of the multitude of molecular drivers causative of heritable and acquired human diseases. This unit will introduce the student to the current platforms and tools used in molecular diagnostic laboratories to identify genetic variants with a focus on interpretation and reporting. Topics will include: prenatal genetic testing, genetic disease diagnosis and carrier testing, pharmacogenetic testing (drug response prediction), cancer diagnosis and prognosis, and screening for unknown genetic mutations.