Latest news with #DavidStroud
Yahoo
26-05-2025
- Health
- Yahoo
University of Melbourne team develops blood test for genetic disease detection
A team at the University of Melbourne in Australia has developed a new blood test for the diagnosis of rare genetic diseases in babies and children. This test, created in collaboration with Murdoch Children's Research Institute, has the potential to replace costly and invasive procedures. According to new research, this test can identify up to 50% of all known rare genetic diseases rapidly. It can assess the pathogenicity of several gene mutations at once without needing to conduct several other functional tests. University of Melbourne associate professor David Stroud said: 'If our blood test can provide clinical diagnoses for even half of the 50% of patients who don't get a diagnosis through genome sequencing, that's a significant outcome as it means those patients don't have to undergo unnecessary and invasive testing such as muscle biopsies, which for a baby requires general anaesthetic and that doesn't come without risks.' The research team compared their blood test to a clinically accredited enzyme test from the Victorian Clinical Genetics Services at MCRI, focusing on mitochondrial diseases. These disorders severely impact energy production in cells, leading to organ dysfunction or failure. The new test demonstrated higher sensitivity and accuracy, delivering faster results than the existing method. The researchers have also received an A$3m ($1.9m) grant from the Australian Government's Medical Research Future Fund. This funding will aid them in recruiting 300 patients with various genetic disorders into a study to assess the diagnostic test. The institute said the blood test will be offered as a diagnostic service by the Victorian Clinical Genetics Services in the future. "University of Melbourne team develops blood test for genetic disease detection" was originally created and published by Medical Device Network, a GlobalData owned brand. The information on this site has been included in good faith for general informational purposes only. It is not intended to amount to advice on which you should rely, and we give no representation, warranty or guarantee, whether express or implied as to its accuracy or completeness. You must obtain professional or specialist advice before taking, or refraining from, any action on the basis of the content on our site.
Yahoo
26-05-2025
- Health
- Yahoo
University of Melbourne team develops blood test for genetic disease detection
A team at the University of Melbourne in Australia has developed a new blood test for the diagnosis of rare genetic diseases in babies and children. This test, created in collaboration with Murdoch Children's Research Institute, has the potential to replace costly and invasive procedures. According to new research, this test can identify up to 50% of all known rare genetic diseases rapidly. It can assess the pathogenicity of several gene mutations at once without needing to conduct several other functional tests. University of Melbourne associate professor David Stroud said: 'If our blood test can provide clinical diagnoses for even half of the 50% of patients who don't get a diagnosis through genome sequencing, that's a significant outcome as it means those patients don't have to undergo unnecessary and invasive testing such as muscle biopsies, which for a baby requires general anaesthetic and that doesn't come without risks.' The research team compared their blood test to a clinically accredited enzyme test from the Victorian Clinical Genetics Services at MCRI, focusing on mitochondrial diseases. These disorders severely impact energy production in cells, leading to organ dysfunction or failure. The new test demonstrated higher sensitivity and accuracy, delivering faster results than the existing method. The researchers have also received an A$3m ($1.9m) grant from the Australian Government's Medical Research Future Fund. This funding will aid them in recruiting 300 patients with various genetic disorders into a study to assess the diagnostic test. The institute said the blood test will be offered as a diagnostic service by the Victorian Clinical Genetics Services in the future. "University of Melbourne team develops blood test for genetic disease detection" was originally created and published by Medical Device Network, a GlobalData owned brand. The information on this site has been included in good faith for general informational purposes only. It is not intended to amount to advice on which you should rely, and we give no representation, warranty or guarantee, whether express or implied as to its accuracy or completeness. You must obtain professional or specialist advice before taking, or refraining from, any action on the basis of the content on our site. Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Yahoo
24-05-2025
- Health
- Yahoo
Scientists develop breakthrough blood test for rare genetic disorders in children
In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can accurately diagnose rare genetic diseases in infants and children, potentially within days. The new test could spare families from months or even years of uncertainty, replacing costly, invasive procedures like muscle biopsies with a single, comprehensive diagnostic tool. While genome sequencing has transformed the landscape of rare disease detection, it still fails to deliver answers in about half of all cases. The new blood test bridges this diagnostic gap by assessing the pathogenicity of thousands of gene mutations at once, dramatically accelerating the path to treatment and hope for affected families. Researchers say the new blood test can rapidly detect abnormalities in up to 50 percent of all known rare genetic diseases. 'If our blood test can provide clinical diagnoses for even half of the 50 percent of patients who don't get a diagnosis through genome sequencing, that's a significant outcome as it means those patients don't have to undergo unnecessary and invasive testing such as muscle biopsies, which for a baby requires general anaesthetic and that doesn't come without risks,' University of Melbourne Associate Professor David Stroud said in a release. Murdoch Children's Research Institute Professor David Thorburn said that by providing patients and their families with a rapid clinical diagnosis, the chances of survival increased, as treatment, if available, could begin much sooner. "Even in cases where a child has died from an undiagnosed genetic disease, this new test can be carried out on tissue samples to determine the genetic mutation responsible for their death. Such diagnoses not only provide closure to families, but this information can also be used in IVF to help the parents to have future children who have not inherited the life-threatening disease,' Thorburn said. The research team reportedly benchmarked their new test against an existing clinically accredited enzyme test provided by the Victorian Clinical Genetics Services at MCRI, with a focus on mitochondrial diseases—a group of severe and rare disorders that deplete the body's cells of energy, potentially leading to organ dysfunction or failure, and even death. They found that, in comparison, their new test was more effective in confirming a mitochondrial disease diagnosis, being significantly more sensitive, accurate, and capable of delivering faster results. 'A recent health economics analysis in collaboration with the Melbourne School of Population and Global Health showed that our test could be offered at a similar cost to the enzyme test that is currently offered clinically for mitochondrial diseases, but our test is much more cost-effective as it can test for thousands of different genetic diseases, whereas other functional tests are mostly targeted to a small number of genetic disorders,' Dr Daniella Hock said. "Thanks to a $3 million Australian Government Medical Research Future Fund grant, researchers are now in the process of recruiting 300 patients with a range of different genetic disorders to participate in a study to investigate the broad utility of their diagnostic test," he added. It is expected that the test will eventually be offered as a diagnostic service through the Victorian Clinical Genetic Services. The new research has been published in the journal Genome Medicine.
The Guardian
23-05-2025
- Health
- The Guardian
Blood test developed that could speed up diagnosis of rare diseases in babies
A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner. Rare genetic disorders include a host of conditions, from cystic fibrosis to diseases relating to the mitochondria – the powerhouses of our cells. However, getting a diagnosis can be arduous. 'In most cases people suspected of a rare disease undergo genomic testing, which revolutionised their diagnosis, but typically only leads to a diagnosis about 50% of the time,' said Dr David Stroud, the co-author of the study from the University of Melbourne. 'Those that don't receive a diagnosis from genomic testing often undergo a long 'diagnostic odyssey' of months to years where they undergo myriad other tests in an effort to interpret which of the many genetic changes detected in genomic testing are causing the disease,' he added. 'Some of these tests are very invasive, needing for example muscle biopsies, which in children requires general aesthetic, which has its own risks.' Writing in the journal Genome Medicine, Stroud and colleagues report how they sought to supplement genetic testing with another approach: examining the myriad proteins found within certain types of blood cells taken from a patient, and comparing them against those found in healthy people. 'Since genes are the instructions to make proteins, we then use this information to understand which of the thousands of changes in many different genes detected in a patient are leading to a damaged protein and which are benign,' said Stroud. The team say the approach means the effects of many different genetic mutations can be analysed at once and yield results in as little as three days. Among other results the researchers found the new approach outperformed current gold-standard tests for mitochondrial diseases that are used alongside genetic testing, and enabled the diagnosis of diseases where genomic testing alone had been unable to do so. 'Genomics is the frontline test and it can solve the diagnosis in about 30-50% of patients suspected of a rare disease. We think a single proteomic test can increase that diagnostic yield to 50-70% of suspected patients,' said Prof David Thorburn, another author of the research from the University of Melbourne. While the study focuses on using the test for mitochondrial diseases, Stroud said it was already applicable to about half of the 7,000 known rare diseases, although more work is needed to demonstrate this. Stroud added that for mitochondrial diseases as little as 1ml of blood from a newborn is required for the procedure, whereas current techniques involve a muscle biopsy. Furthermore, while a mitochondria-focused version of the test has a similar cost to current techniques, it is not specific to one kind of rare disease. That not only makes it more cost effective but, as Stroud noted, it also means patients could avoid having to take other unnecessary tests. 'This has obvious benefits to both the patient and healthcare system,' he said. A diagnosis not only sheds light on the disease, and – in some cases – possible treatments. It also helps parents who are considering having further children by raising the possibility of pre-natal genetic testing. Michal Minczuk, a professor of mitochondrial genetics, at the University of Cambridge, and who was not involved in the study, welcomed the research. 'Overall, the paper marks a very significant step forward in diagnostic practices by introducing a robust, rapid, and minimally invasive method for confirming and characterising genetic disorders,' he said. 'This could greatly enhance patient care by expanding the tools available for clinicians and researchers in genomic medicine.'
