Latest news with #GenomeMedicine
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.'
West Australian
22-05-2025
- Health
- West Australian
Rare genetic diseases rapidly detected under new test
Louise Gray knew something was wrong when her five-month-old son failed to meet the same early milestones as his older sister. Acting quickly, she took him to the GP, which led to an MRI and a series of further tests. Eventually, Kye was diagnosed with Leigh's disease, a rare and serious mitochondrial condition. Kye is now two and is the only known case in Australia with the ABAT gene. "We just never expected to get the diagnosis of Leigh's syndrome. It was a huge shock," Ms Gray said. "He doesn't have that head control. His eyes shake a lot but he's got abnormal brain activity. Given how rare the condition is, they just don't know a lot." That has since changed, following a breakthrough genomic blood test developed by researchers from the University of Melbourne and Murdoch Children's Research Institute. The breakthrough test allows parents to screen not only for the gene linked to Leigh's disease but also for thousands of others. "They've been able to confirm the genetics behind it, which has enabled me to meet other families with this condition. (There are) about 15 reported cases of the ABAT variant worldwide," Ms Gray said. The test has provided clarity for Ms Gray and her family. "At least we have been able to confirm the gene and that's really important. We want more children one day, but could never go through this again," she said. "Having this genetic diagnosis means we are able to test in any future pregnancies." The research, published in Genome Medicine on Thursday, has been labelled revolutionary as it can help avoid expensive and invasive procedures and allows doctors to start treatment sooner. Doctors currently use genome sequencing to diagnosis of rare diseases, although it only works in about half of the case. This test can rapidly detect abnormalities in up to 50 per cent of all known rare genetic diseases in a matter of days by analysing the pathogenicity of thousands of gene mutations at once. "We've been working on this testing for about 10 years ... we believe we've effectively turned the corner from this being a research test into something that will be able to be offered in a clinical diagnostic lab," Murdoch Children's Research Institute David Thorburn said. "(It) will enable diagnosis of potentially hundreds of patients a year in Australia." Biomedical scientist David Stroud, from the University of Melbourne, described the test as a breakthrough as it can test for thousands of genetic proteins at once. "What is unique in our test is that it can test for all the proteins in a particular sample. This equates for about half of the known genes that can cause rare diseases," he said. If the test can provide clinical diagnoses for even half of the 50 per cent of patients who don't get a diagnosis through genome sequencing, that's a significant outcome. "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," Professor Stroud said. Researchers are 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.
Perth Now
22-05-2025
- Health
- Perth Now
Rare genetic diseases rapidly detected under new test
Louise Gray knew something was wrong when her five-month-old son failed to meet the same early milestones as his older sister. Acting quickly, she took him to the GP, which led to an MRI and a series of further tests. Eventually, Kye was diagnosed with Leigh's disease, a rare and serious mitochondrial condition. Kye is now two and is the only known case in Australia with the ABAT gene. "We just never expected to get the diagnosis of Leigh's syndrome. It was a huge shock," Ms Gray said. "He doesn't have that head control. His eyes shake a lot but he's got abnormal brain activity. Given how rare the condition is, they just don't know a lot." That has since changed, following a breakthrough genomic blood test developed by researchers from the University of Melbourne and Murdoch Children's Research Institute. The breakthrough test allows parents to screen not only for the gene linked to Leigh's disease but also for thousands of others. "They've been able to confirm the genetics behind it, which has enabled me to meet other families with this condition. (There are) about 15 reported cases of the ABAT variant worldwide," Ms Gray said. The test has provided clarity for Ms Gray and her family. "At least we have been able to confirm the gene and that's really important. We want more children one day, but could never go through this again," she said. "Having this genetic diagnosis means we are able to test in any future pregnancies." The research, published in Genome Medicine on Thursday, has been labelled revolutionary as it can help avoid expensive and invasive procedures and allows doctors to start treatment sooner. Doctors currently use genome sequencing to diagnosis of rare diseases, although it only works in about half of the case. This test can rapidly detect abnormalities in up to 50 per cent of all known rare genetic diseases in a matter of days by analysing the pathogenicity of thousands of gene mutations at once. "We've been working on this testing for about 10 years ... we believe we've effectively turned the corner from this being a research test into something that will be able to be offered in a clinical diagnostic lab," Murdoch Children's Research Institute David Thorburn said. "(It) will enable diagnosis of potentially hundreds of patients a year in Australia." Biomedical scientist David Stroud, from the University of Melbourne, described the test as a breakthrough as it can test for thousands of genetic proteins at once. "What is unique in our test is that it can test for all the proteins in a particular sample. This equates for about half of the known genes that can cause rare diseases," he said. If the test can provide clinical diagnoses for even half of the 50 per cent of patients who don't get a diagnosis through genome sequencing, that's a significant outcome. "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," Professor Stroud said. Researchers are 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.
