Latest news with #geneticdiseases
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
The Story I Never Got To Report: A Medical Breakthrough That Could Have Saved My Son
Journalists, by profession and nature, look for stories. We search for what's new, important, long-awaited, surprising or hidden so we can share it and help people understand the world. There is no better job. We're also competitive, scanning headlines and bylines, looking at what others have found to see if we've been scooped. Last week I read a headline in the New York Times that stopped me in my tracks. It was the story I wished with all my soul I could have written myself a few years ago, before it was too late for my son Henry. I'd already written it in my head. And yet there it was in front of me. 'Baby Is Healed With World's First Personalized Gene-Editing Treatment.' The sub-headline declared: 'The technique used on a 9½-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.' Henry, who passed away two years ago this summer, had one of those other uncommon genetic diseases. It is called Rett syndrome and is caused by a tiny mutation of a gene called MECP2 in our DNA. I didn't know what MECP2 was until the diagnosis. The names of genetic diseases are codes. More specifically, they are coordinates that locate on the genetic map the exact spot where an error is located. Henry's problem, the root of the issue that prevented him from walking, talking and breathing properly, was right there in the MECP2 gene. Yet it remained unreachable. Genetic diseases tease you. You stare into a glass box. You can see the culprit, but can not touch him. If only that little genetic quirk, that typo among billions of coded characters could be repaired, then everything else would fall into place. 'The baby, now 9 ½ months old,' The New York Times reported, 'became the first patient of any age to have a custom gene-editing treatment, according to his doctors. He received an infusion made just for him and designed to fix his precise mutation.' I wished I could have broken the story with Henry as patient zero. I had imagined the roll-out too, coming back on the set of TODAY with Henry and his mother Mary, who has written about Henry's life and losing him for We'd sit with Savanah Guthrie, who has been supporting ongoing research using Henry's cells, and talk — cautiously, hopefully and thankfully — about the progress we were seeing. I allowed myself to imagine saying that Henry was starting to speak. He had been awakened, cured and reborn. There wouldn't be a dry eye in the studio. I never got to do that story about Henry. Sometimes our timelines don't overlap with scientific progress. They rarely do. Mary and I are full of nothing but joy that from now on, so many other families will be able to write new and wonderful stories of their own. This article was originally published on
Yahoo
16-05-2025
- Health
- Yahoo
New CRISPR alternative can 'install' whole genes, paving the way to treatment for many genetic disorders
When you buy through links on our articles, Future and its syndication partners may earn a commission. Scientists have developed a new gene-editing system that can weave whole genes into human DNA. It could one day lead to a better method of treating genetic diseases triggered by a diverse range of mutations. So far, the approach has been tested only in human cells in the laboratory. But if it's shown to be safe and effective for patients, it could provide an alternative to gene-editing tools that target only specific typos in DNA. Rather than correcting a single gene mutation, the new technique would instead introduce a working copy of the gene into a person's cells. "A single genetic disease can be caused by many different mutations in that gene," said Isaac Witte, a doctoral student at Harvard University and co-lead author of the new research. For example, cystic fibrosis can be triggered by more than 2,000 different mutations in a specific gene. "Treating it [these types of conditions] with genome editing often requires many, mutation-specific approaches. That's labor-intensive, and also intensive from a regulatory standpoint" to get all those approaches approved, Witte told Live Science. An alternative strategy is to introduce a whole new gene to make up for the broken one. The gene editor, described in a report published Thursday (May 15) in the journal Science, enables these types of edits and can insert the new gene directly "upstream" of where the broken one is found in human DNA. More work is needed to get the new gene editor out of the lab and into medical practice, but "we are quite excited by this," Witte said. Related: CRISPR 'will provide cures for genetic diseases that were incurable before,' says renowned biochemist Virginijus Šikšnys Classical CRISPR systems are often nicknamed "molecular scissors" because they use proteins to cut DNA. These systems are found naturally in bacteria, which use CRISPR to defend themselves against invaders, such as viruses. The core of the new gene editor is also borrowed from bacteria, but it does not cut DNA. Rather, it moves large sections of a host's DNA from one location to another in a highly targeted manner. These systems — called CRISPR-associated transposases (CASTs) — have been known about since 2017 and act as a way for "jumping genes" to leap around, either within the same cell's DNA or possibly into other cells' genomes. CASTs are attractive for gene editing because, unlike molecular scissors, they don't cut DNA and thus don't rely on cellular machinery to patch up the DNA that's sustained the cut. That repair process makes it tricky to add new DNA to the genome, in part because it can introduce unwanted mutations. CASTs, on the other hand, sidestep that issue. But CASTs found naturally in bacteria don't play well with human cells. In previous studies led by Samuel Sternberg, an associate professor of biochemistry and molecular biophysics at Columbia University and a co-senior author of the new paper, researchers characterized naturally occurring CASTs and then attempted to use them to edit DNA in human cells. But the systems proved very inefficient, inserting DNA into only 0.1% or less of the cells, Witte said. So Witte, Sternberg and colleagues set out to make CASTs more useful for human therapies. They started with a CAST from Pseudoalteromonas bacteria, which, in previous studies, had shown a teensy bit of activity in human cells. Then, they used an experimental approach called PACE to speed up the evolution of that CAST, introducing new tweaks to the system in each successive round. Through this process, the team evolved a new CAST that could integrate DNA into human cells with 200-fold more efficiency than the original, on average. "It took over 200 hours in PACE, which corresponds to several hundreds of evolutionary generations," Witte said. The same process would have taken years with more conventional methods of directing evolution in lab dishes. Related: 188 new types of CRISPR revealed by algorithm The evolved CAST — dubbed evoCAST — includes 10 key mutations that are needed for it to work well in human cells, Witte said. However, the system works better in some types of human cells than in others, and more research will be needed to understand why that is, he said. The team assessed how well evoCAST worked at regions of the genome that carry genes that are mutated in certain diseases, such as Fanconi anemia, Rett syndrome and phenylketonuria. The team found evoCAST worked in about 12% to 15% of treated cells. Although 100% efficiency is likely not necessary to treat genetic diseases, Witte noted, the exact efficiency needed to cure a given condition likely varies and will require study. RELATED STORIES —New CRISPR system pauses genes, rather than turning them off permanently —CRISPR used to 'reprogram' cancer cells into healthy muscle in the lab —CRISPR therapy for high cholesterol shows promise in early trial The team also tested evoCAST as a method for editing immune cells used in CAR T-cell therapy, a cancer treatment, and found it was similarly efficient for that purpose. That raises the idea of using this gene-editing approach not only inside the human body, but also in the lab to manufacture these types of cell-based therapies. Future research will need to figure out how to best deliver evoCAST to the right cells in the body. "There are a lot of areas for further studies," Witte said. Of course, those studies will need to be funded, and on that front, "it's a difficult time," he added. The new Science study was supported, in part, by the National Institutes of Health (NIH). Now, the NIH's funding has been slashed by sweeping cuts, some of which specifically singled out Ivy League universities like Harvard. "It is something that we're actively dealing with," Witte said.
