Latest news with #ScienceTranslationalMedicine
Forbes
2 days ago
- Health
- Forbes
Gene Therapy For Inherited Disease In The Unborn Child
Until recently, even the most advanced gene therapies could only be given after a child was ... More born—often racing against time to prevent irreversible damage. In the first part of this series, we explored how early genetic screening and gene therapy transform the lives of newborns and their families. Now, we're taking an even earlier step: treating inherited diseases in the womb before birth. Until recently, even the most advanced gene therapies could only be given after a child was born—often racing against time to prevent irreversible damage. But what if we could intervene even earlier? That's the question now being answered, with some astonishing results. A recent study published in Science Translational Medicine showed that delivering a special kind of genetic therapy directly to the fetus could prevent the onset of spinal muscular atrophy in animal models. Treating the condition before birth may be possible to preserve healthy motor function and prevent the nerve damage that usually begins in the womb. This is the first time we see molecular therapies targeting the root cause of inherited disease before birth. Another special investigational case, the first in humans, found that providing the mother with gene therapy while pregnant and continuing treatment after birth also prevented the devastating muscle weakness that usually comes with the disease. This is a true leap forward: instead of managing symptoms; we may soon be able to stop some inherited diseases before they ever begin. The journey starts with advanced prenatal genetic screening. Genetic changes in the developing fetus can be found using a simple blood sample from the mother. When a risk is found, therapy is delivered directly to the fetus, often by injecting medicine into the amniotic fluid. In the case of spinal muscular atrophy, this approach in animal models led to healthier development and longer survival. These findings suggest that intervening before birth can prevent or significantly reduce the neurological damage that begins in the womb and progresses rapidly after birth. While most of this research has been in animals, the first human steps have already begun. In February 2025, the University of California, San Francisco, reported the world's first attempt to treat a genetic disease in a human fetus using a medication called risdiplam. After learning that her unborn child was at risk, a mother began taking the medication late in pregnancy. The baby was born healthy and—now more than two years old—shows no signs of the disease, though some developmental challenges remain. Another important step was taken in a clinical trial at UCSF, where doctors successfully treated a fetus with a different rare disease using enzyme replacement therapy, showing that the technology for delivering medicine to the unborn is already here. Many inherited diseases cause the most significant harm before a baby is even born. By intervening early, we have the chance to save lives and give children the best possible start—preserving their ability to move, think, and grow. This isn't just a medical advance. It's a new way of thinking about what's possible for families facing genetic disease. Of course, there are still challenges ahead. Many are working to ensure these therapies are safe, effective, and accessible to all who need them. Ethical questions about when and how to use these powerful tools will also need careful thought. The first human applications of gene therapy before birth are expected within the next decade, pending rigorous safety and ethical evaluations. This new era also brings new questions. If we correct a genetic error in a child before birth, will that change be passed on to future generations? For now, most therapies target the body's somatic cells, not the germline, so the changes are not inherited. However, the line between somatic and germline interventions may blur as technology evolves, raising complex ethical considerations. The first human trials of in-utero gene therapy are just beginning, and more research is needed. But the direction is clear: as technology advances, we are moving from treating inherited diseases after birth to preventing them at the start of life. As I have often said, the future of medicine is being rewritten, one gene at a time. This latest breakthrough brings us one step closer to a world where prevention, rather than treatment, becomes the standard for genetic disease, where every child can live their healthiest life from the very start. As discussed in my book, the hope is that every child will soon have the chance to live their healthiest life from the beginning.
India Today
27-05-2025
- Health
- India Today
Why some Covid-19 cases turn severe while others don't
A recent study suggests that the virus behind Covid-19 has the potential to turn important immune cells into ones that weaken the body's ability to fight the finding out what makes some people develop severe Covid-19, researchers from Johns Hopkins University have found that the SARS-CoV-2 virus may alter neutrophils, the most common type of white blood cells, in a way that weakens the immune study, funded by the US National Institutes of Health and published in Science Translational Medicine, reveals that neutrophils in Covid-19 patients may lose their ability to fight infections. Instead, these cells begin suppressing other immune cells, particularly T cells, which are essential for clearing viruses from the body.'In some Covid infections, the virus appears to reprogram neutrophils into a different type of cell that suppresses T cells. This may help explain why some people develop severe illness,' said Dr Andrea Cox, senior author of the altered cells are known as PMN-MDSCs (polymorphonuclear myeloid-derived suppressor cells), which have been seen in cancer and other non-viral diseases but not commonly in viral infections like researchers analysed blood samples from 39 hospitalised Covid-19 patients and compared them with samples from nine healthy individuals. None of the patients had received Covid vaccines or immunosuppressant drugs like dexamethasone. advertisementIn those with severe Covid-19, the team found that neutrophils had changed form, they had 'degranulated,' releasing their contents and morphing into PMN-MDSCs. These reprogrammed cells expressed two proteins, LOX-1 and PD-L1, known to suppress T cell the researchers exposed healthy neutrophils to the virus in the lab, they observed the same transformation: the cells began suppressing T cells, stopping them from multiplying and releasing cytokines, signalling proteins that activate other immune when the same experiment was done using the H1N1 influenza virus, the neutrophils did not convert into suppressor cells, indicating a unique feature of may already be a treatment that could counter this effect. The researchers added PD-L1-blocking antibodies, a type of drug used in cancer therapy, to neutrophils exposed to SARS-CoV-2. The result: T cells were less suppressed and became more active."This suggests that combining PD-L1 antibodies with antiviral drugs, or even using them alone when antivirals aren't possible, might help patients with severe Covid,' Cox CDC defines severe Covid-19 as illness that results in hospitalisation, ICU admission, or study offers a deeper understanding of how SARS-CoV-2 might hijack the immune system and lead to severe illness and opens new doors for treatments that could help the body fight back more Watch
Time of India
24-04-2025
- Health
- Time of India
Antibiotic shows promise against Lyme disease at a fraction of the dosage
A Northwestern University study reveals that piperacillin, a common antibiotic, effectively treats Lyme disease in mice at a much lower dose than doxycycline, the current standard. This reduced dosage minimizes harm to beneficial gut bacteria, a significant drawback of existing treatments. Piperacillin, already FDA-approved, could also potentially serve as a preventive measure against Lyme disease following tick bites. Lyme disease affects nearly half a million individuals in the United States annually. The disease caused by the bacterium Borrelia burgdorferi and rarely, Borrelia mayonii is spread to humans through the bite of infected blacklegged ticks, known as deer ticks. Lyme disease can be devastating even in acute cases, so early treatment with antibiotics is crucial to prevent chronic symptoms like heart and neurological problems and arthritis. Scientists from Northwestern University have found that a specific antibiotic can cure Lyme disease effectively, and only requires 1/100th of the dose of the treatment currently being used. The study published in the journal Science Translational Medicine revealed that piperacillin, an antibiotic in the same class as penicillin, effectively Lyme disease in mice at 100 times less than the dose of doxycycline, the current gold standard treatment. The study revealed that at such a low dose, piperacillin also had the added benefit of 'having virtually no impact on resident gut microbes.' Though doxycycline and other generic antibiotics treat the disease, they wreak havoc on the microbiome by killing the beneficial gut bacteria. Doxycycline also fails in 10 and 20% of individuals who take it, and it is not approved for use in young children, who are especially at the highest risk of tick bites, resulting in Lyme. 'Powerful, broad-spectrum antibiotics that kill extracellular bacteria are seen as the most effective medication because physicians want to just kill the bacterium and don't care how. This is certainly a reasonable approach, but I think the future for Lyme disease patients is bright in that we are approaching an era of customized medicine, and we can potentially create a particular drug, or a combination to treat Lyme disease when others fail. The more we understand about the various strains and species of Lyme disease-causing Borrelia, the closer we get to a custom approach,' Brandon L. Jutras, who led the research, and ios an associate professor in the microbiology-immunology department of Northwestern University Feinberg School of Medicine, and a member of Northwestern's Center for Human Immunobiology, said in a statement. Trump Demands This From China Amid Tariff War... | 'U.S. No Longer Lose On Trade' The researchers stated that the piperacillin, which has already been FDA-approved as a safe treatment for pneumonia, could also be used as a preventive treatment. If someone is bitten by a deer tick and might have been exposed to Lyme disease, they could get a one-time shot of the medication to help prevent infection. The study said that penicillin is relatively the most effective and targeted treatment. Piperacillin is usually given with another drug, tazobactam, to treat serious strep infections. This is because strep can block piperacillin from working unless tazobactam is there to stop the enzyme that breaks it down. Jutras also looked at the option of using both drugs together as they might work better than using piperacillin alone. 'Bacteria are clever. Strep and some other bacteria combat antibiotics by secreting beta-lactamases that inactivate piperacillin. We found the approach is totally irrelevant in the context of Lyme disease, and another way that makes piperacillin more specific. Adding the beta-lactamase inhibitor doesn't improve the therapy because Lyme Borrelia don't produce beta-lactamase, but the cocktail does negatively impact the microbiome by becoming more broadly functional against beneficial residents,' Jutras added. Curbing Lyme disease is a challenge, given that there are no approved human vaccines as of now, and this new research could be a way forward.
Yahoo
23-04-2025
- Health
- Yahoo
Science Translational Medicine Study Funded by the Bay Area Lyme Foundation Identifies FDA-approved Piperacillin as More Effective, Targeted Treatment for Lyme Disease
An additional Science Translational Medicine study also funded by Bay Area Lyme Foundation uncovers how lingering bacterial cell wall molecules may contribute to chronic Lyme symptoms PORTOLA VALLEY, Calif., April 23, 2025 (GLOBE NEWSWIRE) -- Bay Area Lyme Foundation, a leading sponsor of Lyme disease research in the US, announces two pre-clinical studies published in the peer-reviewed journal Science Translational Medicine. The studies demonstrate promising implications for improved Lyme disease treatment and understanding of chronic Lyme through peptidoglycan, a molecule found in the cell wall of the bacterium, Borrelia burgdorferi (Bb), which causes Lyme disease. The first study finds piperacillin, an FDA-approved treatment for pneumonia that inhibits peptidoglycan production, may be a more effective treatment for Lyme disease than the current 'gold standard' treatment, doxycycline, which is not effective for up to 20% of patients. The second study uncovers how lingering peptidoglycan builds up in the joint fluid and liver, contributing to chronic Lyme symptoms, which affect over 20% of patients treated for Lyme disease. 'Piperacillin may be a game-changer for improving Lyme disease treatment, which is currently a challenge for researchers and physicians. Furthermore, our new mechanistic understanding of how piperacillin affects peptidoglycan synthesis is unexpectedly informing our development of a biomarker-based approach to diagnose acute Lyme disease,' said Brandon Jutras, PhD, associate professor of Microbiology-Immunology at Northwestern University Feinberg School of Medicine, and a Bay Area Lyme Foundation 2021 Emerging Leader Award winner. 'Our second study explores the role of peptidoglycan in chronic Lyme symptoms; peptidoglycan influences an inflammatory and chronic illness response for weeks or even months after infection, adding to the growing evidence that remnants of bacteria and viruses can stick around and keep affecting the body, similar to the occurrence of Long COVID in some patients.' In the first study, researchers screened nearly 500 FDA-approved compounds using a wide range of scientific techniques to identify potential treatments for Lyme disease. Piperacillin stood out as a top performer in laboratory studies, effectively killing the Lyme-causing bacterium at very low concentrations by targeting its unique peptidoglycan cell-wall pattern. In pre-clinical models, piperacillin cured infection at doses 100 times lower than doxycycline, a standard Lyme treatment, and did so without disrupting the gut microbiome. These findings suggest that piperacillin could become a promising new option for specifically treating Lyme disease when administered at low doses. The second study focused on the bacterium that causes Lyme disease, and its unique cell wall component called peptidoglycan. This molecule was found to persist in joint fluids in human samples, potentially driving inflammation and long-term health issues. Using pre-clinical models, the team discovered that the liver acts as a 'storage site' for bacterial peptidoglycan, where it can remain for weeks or months, unlike peptidoglycan produced by other bacteria. The presence of peptidoglycan triggered changes in immune responses and energy metabolism like fatigue and inflammation. These findings suggest that lingering bacterial molecules like peptidoglycan could play a role in chronic Lyme disease, drawing parallels to other chronic conditions like Long COVID, where persistent antigens may contribute to ongoing heath issues. 'Dr. Jutras' findings show great potential for improving Lyme disease treatments and identifying the mechanisms causing persistent and chronic Lyme disease, informing new potential avenues for diagnostics and therapeutics,' said Linda Giampa, executive director of Bay Area Lyme Foundation. 'It is rewarding for all of us at Bay Area Lyme Foundation to have seen the progress of Dr. Jutras' work from when we selected him as an Emerging Leader Award winner in 2021 through this promising research, which closely aligns with our mission of making Lyme disease easy to diagnose and simple to cure.' Together, these studies represent a significant advancement in understanding and treating Lyme disease. Bay Area Lyme Foundation remains committed to supporting innovative science that not only deepens our understanding of Lyme disease but also accelerates the development of more targeted diagnostics and therapies to improve patient outcomes. About Lyme disease The most common vector-borne infectious disease in the US, Lyme disease is a potentially disabling infection caused by bacteria transmitted through the bite of an infected tick to people and pets, and may also be passed from a pregnant mother to her unborn baby. If caught early, most cases of Lyme disease can be effectively treated, but it is commonly misdiagnosed due to lack of awareness and inaccurate diagnostic tests. There are approximately 500,000 new cases of Lyme disease each year, according to statistics released in 2018 by the CDC. As a result of the difficulty in diagnosing and treating Lyme disease, up to two million Americans may be suffering from the impact of its debilitating long-term symptoms and complications, according to Bay Area Lyme Foundation estimates. About Bay Area Lyme Foundation Bay Area Lyme Foundation, a national organization committed to making Lyme disease easy to diagnose and simple to cure, is the leading public not-for-profit sponsor of innovative Lyme disease research in the US. A 501c3 organization based in Silicon Valley, Bay Area Lyme Foundation collaborates with world-class scientists and institutions to accelerate medical breakthroughs for Lyme disease. It is also dedicated to providing reliable, fact-based information so that prevention and the importance of early treatment are common knowledge. A pivotal donation from The LaureL STEM FUND covers overhead costs and allows for 100% of all donor contributions to Bay Area Lyme Foundation go directly to research and prevention programs. For more information about Lyme disease or to get involved, visit or call us at 650-530-2439. Media contact: Tara DiMilia Phone: 908-369-7168 Sign in to access your portfolio
Euronews
29-03-2025
- Health
- Euronews
Scientists discover drug that could make human blood deadly to mosquitos in fight against malaria
ADVERTISEMENT Researchers have discovered that a medication typically prescribed for rare diseases could make human blood deadly for mosquitoes, offering a potential lead to curb diseases such as malaria . They experimented with a drug called nitisinone, which is usually prescribed to individuals with rare inherited diseases that typically prevent them from being able to fully break down certain amino acids. The medication works by blocking an enzyme to prevent the build-up of harmful disease byproducts in the human body. Related Scientists in Argentina use nuclear energy to reduce disease-carrying mosquitoes When mosquitoes drink blood that contains nitisinone, the drug also blocks the enzyme in their bodies, stopping them from properly digesting the blood, leading them to quickly die, according to their findings published in the journal Science Translational Medicine. "One way to stop the spread of diseases transmitted by insects is to make the blood of animals and humans toxic to these blood-feeding insects ," Lee R Haines, associate research professor at the University of Notre Dame in the US and co-lead author of the study, said in a statement. "Our findings suggest that using nitisinone could be a promising new complementary tool for controlling insect-borne diseases like malaria". Personal protective measures include wearing covering clothes, the use of mosquito repellent and the use of bed nets or window and door screens. Related Scientists have developed a super repellent that can stop 99% of mosquitos from biting your skin A growing need for mosquito control solutions Another method is the use of ivermectin, used to kill parasites. However, its repeated use can lead to drug-resistance. It can also be toxic for the environment. "Nitisinone performance was fantastic," said Álvaro Acosta Serrano, professor of biological sciences at Notre Dame and co-corresponding author of the study. "It has a much longer half-life in human blood than ivermectin, which means its mosquitocidal activity remains circulating in the human body for much longer. This is critical when applied in the field for safety and economical reasons," he added. Nitisinone was able to kill mosquitoes across all age groups, including older mosquitoes that are most likely to transmit malaria. It was also capable of eliminating insecticide-resistant mosquitoes. Related Malaria cases surged to 263 million last year amid stalled progress to stop mosquito-borne illness "In the future, it could be advantageous to alternate both nitisinone and ivermectin for mosquito control," Haines said. "For example, nitisinone could be employed in areas where ivermectin resistance persists or where ivermectin is already heavily used for livestock and humans". Mosquito-borne diseases include malaria, dengue, West Nile virus, chikungunya and yellow fever, according to the European Centre for Disease Prevention and Control (ECDC). They represent an emerging threat to human health in Europe with climate change creating more favourable conditions for invasive mosquito species despite malaria being eradicated from the continent for several decades.
