Largely undiagnosed genetic condition causing heart disease

New Heart Foundation funding

Dr Mitchell Sarkies has been awarded a Heart Foundation Vanguard Grant to improve the management of Familial Hypercholesterolaemia (FH), a largely undiagnosed genetic condition that causes high cholesterol and cardiovascular disease.

Despite its tragic consequences for coronary artery disease, FH remains under-diagnosed as only 10% of Australians with FH have been detected. The new research seeks to enhance the detection and management of FH by identifying barriers to screening and testing. Once barriers are identified, solutions can be developed and implemented to enable more people to access care.

FH diagnostic genetic testing in clinically affected individuals and predictive testing of biological relatives is covered by the Medicare Benefits Schedule (MBS) however uptake is low and more awareness is required among of general practitioners (GPs), specialists, and consumers.

A sincere thank you to the Heart Foundation for supporting our research into improving the detection and management of familial hypercholesterolaemia in Australia.

"This funding will enable an exemplar application of genetic medicine to identify the 90% of people who are at risk of FH but are currently undiagnosed, so they can receive the best care available,” said Dr Sarkies.

Dr Sarkies is a NHMRC Emerging Leadership Fellow and Postdoctoral Research Fellow at the Australian Institute of Health Innovation.

Watch a short video here with Dr Sarkies describing the research project and the impact it will have on the heart health of Australians.

CENTRES RELATED TO THIS NEWS

Centre for Healthcare Resilience and Implementation Science

FOR ENQUIRIES, PLEASE CONTACT

Chrissy Clay, Research Outreach Coordinator, on chrissy.clay@mq.edu.au

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