US EditionNew Blood Test Screens for Thousands of Rare Inherited Diseases at Once
- Australian researchers developed a new blood test that screens thousands of rare inherited diseases in infants and children, presented on Monday in Milan.
- This test emerged due to slow, targeted genetic testing methods that diagnose only about half of rare disease cases and often require lengthy functional tests.
- The test analyzes over 8,000 proteins from a 1 ml blood sample, detects functional protein abnormalities, and can deliver results in under three days for urgent cases.
- Dr. Daniella Hock stated the test "can potentially replace multiple functional tests" and improve diagnosis speed and reduce healthcare costs for many genetic diseases.
- Implementing this proteomic test could shorten diagnostic times, provide molecular diagnoses to thousands annually, reduce invasive investigations, and allow early targeted treatments.
13 Articles
13 Articles
New blood test screens for thousands of rare inherited diseases at once
A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at once, greatly improving on current inefficient detection methods, according to a new study.
Families living with rare diseases are part of a social priority, not its margins, said Jelena Žarić Kovačević, Minister of Family Care and Demography, at the "Life Without Barriers" conference yesterday.
Around 87% of Aussies say they would take up newborn genetic screening
Newborn genetic screening is largely supported by the Australian public, with a survey of over 2,500 people suggesting that the uptake of genetic screening of newborns would be over 87%, depending on how the program is implemented and the additional diagnoses that are expected to be made. The study found that the cost of screening was the most important attribute in people’s decisions about uptake of genetic newborn screening, and a program that…
deia.eus
noticiasdegipuzkoa.eusA new rapid test method will greatly facilitate the diagnosis of rare diseases in babies and children, according to research from the University of Melbourne, Australia, which is presented at the annual conference of the European Society of Human Genetics, held in Milan, Italy.
Proteomic Test Could Diagnose Thousands of Rare Genetic Diseases
Researchers at the University of Melbourne have developed a blood test that can analyze thousands of proteins in a single test to search for rare disease markers. The researchers hope that their test could help to identify children and adults with rare diseases more quickly as these individuals often have to wait for as long as five years before they get a diagnosis. Currently, babies are screened for a panel of around 38 rare diseases and 26 ot…
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