Latest news with #MurdochChildren'sResearchInstitute
ABC News
3 days ago
- Health
- ABC News
Babies vulnerable to measles, as global cases surge
Scientists at the Murdoch Children's Research Institute have found children can be vulnerable to measles infections at four months of age, which is well before they can currently receive their first vaccine at 12 months. Measles is surging across the world and Australia has already recorded more infections this year than for the whole of 2024.
Yahoo
6 days ago
- 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.
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.
Yahoo
20-05-2025
- Health
- Yahoo
Mum spends $10,000 on painful condition affecting millions of Aussies: 'Face swollen shut'
Just three months into her first pregnancy, Sally Daly suddenly developed a painful and itchy skin condition. What started out as a 'slow-growing rash' soon spread and by the time she was due to give birth, it had 'taken over' her entire body. Over the next few years, the Perth mum told Yahoo News Australia she spent around $10,000 and countless hours seeking out specialists and treatments to help cure her chronic health problem — eczema. Close to three million Aussies are affected by eczema, including one in three children under the age of six, according to the Murdoch Children's Research Institute. The country has one of the highest rates in the world for multiple reasons, including the local climate, Minister for Health and Aged Care Mark Butler said late last year during a press conference about the debilitating condition, which dermatologists argue can have a huge impact on a person's quality of life. After developing eczema for the first time, Sally said she spent months 'trying every natural remedy' she could find but nothing helped ease the pain or halt its spread. 'Eventually, I saw a GP, who was hesitant to prescribe steroid creams while I was pregnant,' the 38-year-old told Yahoo. 'She referred me to a dermatologist who didn't do any tests — just took one look and said, 'It's eczema. Use steroid cream twice a week and taper off.' 'That 'short-term' solution ended up becoming a near-daily routine for almost two years.' A few months before her son's first birthday in September, 2022 Sally decided to stop using steroids to treat the condition. However, the move didn't make the problem any better. 'That's when my nightmare began,' Sally said. 'One night, I woke up with my face swollen shut, my skin weeping and red, looking like it had been scorched. I had severe shakes, couldn't see properly, and my whole body felt like it was burning.' 🌳 Workers spotted painting roadside tree in trend sweeping Australia 🧠 Aussie family's remarkable bravery after baby girl's tragic diagnosis 🔥 Mum's warning after camping accident leaves daughter with severe burns After reporting to hospital, Sally claimed she was sent home with antihistamines but no answers. Desperate for a solution, the 38-year-old said she turned to online support groups and quickly learned about topical steroid withdrawal (TSW), otherwise known as topical corticosteroid (TCS) withdrawal, which can occur after prolonged use. 'It all made sense. Every horrific symptom matched what I was going through,' she told Yahoo. 'At my worst, my husband had to take long service leave just to care for our son because I couldn't. I couldn't dress myself, couldn't pick up my baby, couldn't even be touched. 'My body was raw, flaking, oozing. I was so self-conscious I didn't want to sleep in the same bed as my partner. I was suicidal at one point. I truly felt like this was going to be my forever, and even advertised for a 'TSW buddy'.' Eventually, Sally said a naturopath informed her she had pyroluria, which depleted her natural levels of zinc and B6. 'She also identified food intolerances and high steroid levels still in my system. She put me on a tailored protocol – high-dose supplements, homeopathics, no moisture therapy. It was incredibly hard, but things slowly started to improve,' the mum said. Sally said she got some relief from the burning and dryness using MooGoo eczema and psoriasis creams. Six months on, Sally said she is walking again and is now able to go outside and play with her son. 'My skin is still dry at times — possibly due to winter – but I no longer feel like I'm living in a constant emergency. My mental health has done a full 180. 'If I could tell people one thing, it's that eczema isn't 'just a rash'. TSW is real, devastating, and completely life-altering. But there is a way through it. It's slow. It's hard, but healing is possible.' Melody Livingstone, MooGoo CEO, told Yahoo the company has 'definitely seen an increase' in the number of people contacting them directly about their struggles with TSW. 'It's heartening that the Australasian College of Dermatologists now acknowledges TSW, and groups such as the National Eczema Society and British Association of Dermatologists are calling for greater awareness and investigation,' she said. 'Recovering from Topical Steroid Withdrawal requires a gentle and holistic approach to soothe irritated skin and repair the skin barrier. Maintaining proper hydration is crucial, and discontinuing topical steroids should only be done under the guidance of a healthcare professional.' Recovery requires a gentle and holistic approach to soothe irritated skin and repair the skin barrier People wanting or considering to stop steroid usage should discuss it with their specialist first Maintain proper hydration Remove harsh cleansers and soaps, replacing them with gentler options Use a moisturiser with gentle and hydrating ingredients that don't contain irritants such as petroleum-based ingredients, parabens or phenoxyethanol A thicker, barrier cream with ceramides is a good option as an additional step to lock in moisture and provide extra support in keeping irritants out of the broken you have a story tip? Email: newsroomau@ You can also follow us on Facebook, Instagram, TikTok, Twitter and YouTube.
