Researchers from the University of Melbourne have developed a groundbreaking blood test that significantly speeds up the diagnosis of rare genetic diseases in children. The novel method analyzes 8,000 proteins, providing rapid results due to its proteomic approach. Dr. Daniella Hock highlights its ability to cover half of known Mendelian and mitochondrial disease genes. This innovative test is minimally invasive and offers an efficient, cost-effective solution for better patient outcomes worldwide.
May 28, 2025
New blood test to rapidly diagnose thousands of rare genetic diseases in kids
"Our
new test can identify more than 8,000 proteins." - Dr. Daniella Hock
Australian
researchers have developed a new, rapid testing method to help diagnose rare
diseases in babies and children.
Key
Points
1 Identifies proteins from blood samples quickly
2 Sequence proteins to diagnose diseases
3 Minimally invasive, results under 3 days
4 Reduces costs, boosts early detection
There are more than 7,000 types of disease caused by
mutations in more than 5,000 known genes, affecting approximately 300 million
individuals worldwide.
Currently,
about half of all patients with a suspected rare disease remain undiagnosed,
and existing testing methods for undiagnosed conditions are typically slow.
Researchers
from the University of Melbourne developed a new blood-based method of
analysing thousands of proteins in a single, untargeted test.
The
DNA sequence of most genes is the code to produce proteins, the molecular machines
of our cells and tissues, said Dr. Daniella Hock, a Senior Postdoctoral student
at the varsity, while presenting the research at the annual conference of the
European Society of Human Genetics in Germany.
"Our
new test can identify more than 8,000 proteins in peripheral blood mononuclear
cells (PBMCs) covering more than 50 per cent of known Mendelian and
mitochondrial disease genes, as well as enable us to discover new disease
genes," Hock said.
The
new test is unique as it sequences proteins rather than the genes themselves,
and the data can help understand how changes in the gene sequence affect its
corresponding protein's function and lead to disease.
It
applies to potentially thousands of different diseases, and it can even be used
to detect new ones by providing the evidence needed to confirm that a genetic
change is the likely cause of the disease.
Importantly,
the proteomic test is minimally invasive, requiring only 1 ml of blood from
infants and with results available in under three days for patients in acute
care.
"When
the test is also performed on blood samples from parents, we call it trio
analysis. In recessively inherited conditions, this helps considerably in
differentiating between carriers, who only have one copy of the defective gene,
and the affected individual who carries two copies," Hock said.
Besides
early detection and hope of better outcomes, replacing a battery of targeted
tests with a single analysis can also cut down costs for patients as well as
for healthcare systems.
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