A/Prof David Stroud’s work providing hope on Rare Disease Day
The rarest day of the year - the 29th February - marks Rare Disease Day, an opportunity to highlight the work of A/Prof David Stroud, Department Biochemistry and Pharmacology, whose research specialisation in proteomics and functional genomics has the potential to drastically improve the speed and cost of diagnosing rare genetic diseases.
Eight per cent, or 2 million Australians are currently living with a rare disease. However, the average time for accurate diagnosis of a rare disease is about 4-5 years, and in some cases it can take more than a decade. “Almost half of suspected monogenic rare diseases remain undiagnosed after a long diagnostic odyssey.” David says of his work:
Our aim is to develop proteomics as a clinically accredited functional test for rare genetic diseases.
The technology, being developed by the Medical Research Future Fund (MRFF) initiative RDMassSpec led by A/Prof Stroud, will reduce the time to diagnosis; reducing the turbulence and anxiety for patients waiting for an accurate diagnosis, thereby enabling faster access to personalised therapeutic strategies to alleviate symptoms. Timely diagnosis will also enable families access to appropriate reproductive options.
A/Prof Stroud’s work has the potential to reduce the number of invasive tests and lessen the economic burden that undiagnosed patients have on the healthcare system, in the case of very young children affected by a rare disease this represents a potential saving of up to ~$500k per patient.
Rare disease is emerging as a global public health priority, however the most important first step for patients is diagnosis. Mass-spectrometry based diagnostic tests like the clinical proteomics test developed by A/Prof Stroud will be delivered through a new University of Melbourne clinical multi-omics platform OMIX3.
“OMIX3 will also enable integration of multi-omics into population level cohort studies and clinical trials through automation, allowing the large-scale analysis of ~25,000-30,000 samples per year,” David says with enthusiasm for the state-of-art instrument.
Picture: A/Prof David Stroud with his team in front of one of only four next generation mass spectrometers in Australia.
Learn More
Rare Disease Day
Rare Disease Day on 29th February encourages you to “Share Your Colours” to raise awareness for the 300 million people worldwide living with a rare disease. It is campaigning for equitable access to diagnosis, treatment, health, social care and opportunity. Learn more via rarediseaseday.org
A/Prof David Stroud
The Stroud Laboratory
What is OMIX3?
OMIX3 is a new, high-capacity, multi-omics facility for clinical research. OMIX3 will allow parallel collection of proteomic, metabolomic and lipidomic data on a range of human sample types. The platform will support sample collection, processing and biobanking, secure data storage and operate under NATA accreditation. OMIX3 will underpin a number of flagship projects directed at identifying disease mechanisms and new biomarkers for chronic, infectious and rare genetic diseases that affect millions of Australians.