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Arab News
5 days ago
- Health
- Arab News
Study reveals genetic insights about Saudi and Japanese populations
RIYADH: A new study using Saudi and Japanese pangenome samples exclusively has revealed genetic insights relating to these two populations. 'Up to 12 percent of patients with genetic disorders go undiagnosed due to reliance on reference genomes that don't reflect their population's genetic background,' said Malak Abedalthagafi, professor at Tufts Medical Center and one of the lead authors of the study. 'By constructing population-specific pangenome graphs, we improve variant calling and help close this diagnostic gap.' The pangenome is considered a powerful reference tool to study individual and group DNA. Similar to how a map shows a person's position in relation to their landscape, the pangenome allows researchers to compare a person's genetic makeup with the full spectrum of genetic variation found across a population. 'Having worked on the Saudi genome for several years, contributing to this project marks a meaningful step in my commitment to advancing representation in genomics and ensuring precision medicine serves diverse populations,' Abedalthagafi said. Fellow author of the study and KAUST Professor Robert Hoehndorf explained that building the graphs, which the study calls JaSaPaGe (Japanese Saudi PanGenome), using samples from two distinctive populations offers new health insights. 'Japan and Saudi Arabia are pretty much at the opposite ends of Asia and have been separated for a long time. It gave us a chance to study the effects of population-specific pangenome graphs on variant calling when populations do not match,' Hoehndorf said. JIHS' Yosuke Kawai, another author of the study, added that there were clinical benefits to be gained for both populations. He said: 'The joint development of a population-specific pangenome graph for the Japanese and Saudi Arabian populations addresses a critical gap in global genomic representation. 'By integrating diverse data from both countries, we have created a powerful resource that not only improves variant detection accuracy but also holds great potential for advancing precision medicine tailored to each population's unique genetic landscape.' The first human pangenome was reported in 2023, but none of the DNA samples collected were taken from individuals with Arab or Japanese descent, meaning it was constructed without representation from almost 10 percent of the world's population. The study was carried out by King Abdullah University of Science and Technology, Tufts University and the Japan Institute for Health Security.
CBS News
08-08-2025
- CBS News
South Boston man says he was struck, seriously injured in bike lane by hit-and-run driver
Austin Barron is recovering from surgery to put plates in his skull. He also has a brain bleed, and scrapes on his hands and knee. The South Boston former military paratrooper is training for a November Ironman competition and was finishing up a ride from Boston to Billerica and back, when he believes he was sideswiped by a passing car that didn't stop. "[I just remember] something big hitting me from my rear/side and like losing control," he said. "I don't remember actually falling. I just remember kind of losing control." He later came to in the hospital at Tufts Medical Center. Later, he says he learned that no one stopped, and no one called 911 as he lay on the ground for several minutes. A passing ambulance saw him in a pool of blood and stopped to help. "It was a busy time of day," he said. The incident happened around 10 a.m. on Saturday, August 2. Barron was riding his bike in the bike lane, with a helmet, on William J. Day Boulevard right near the South Boston state police barracks when he believes he was hit. "If I wasn't wearing a helmet, who knows, I probably would not be alive right now," he said. State police say they are investigating. Barron hopes that by sharing his story, someone will come forward who witnessed what happened. "I know that people were there, I remember when I was biking, but there were a lot of people around, so I'm hoping that someone will be like, 'oh this was the car' instead of me trying to figure it out," he explained. Barron spent four days in the hospital and had one surgery. He has a decently long road to recovery - but is determined to still make it to that Ironman. "To my girlfriend, I'm not doing it," he joked. "But I would still like to do it. I'm taking it day by day right now."
Yahoo
21-07-2025
- Business
- Yahoo
OKYO reports top-line data from neuropathic corneal pain therapy trial
OKYO Pharma has reported encouraging top-line outcomes from the randomised Phase II trial of urcosimod (previously referred to as OK-101), aimed at treating neuropathic corneal pain (NCP). The double-masked, placebo-controlled trial was carried out at Tufts Medical Center in Boston, US, with Pedram Hamrah as the principal investigator. Its primary endpoint was the change in mean pain scores from baseline to the end of the 12-week treatment period, measured using Visual Analogue Scale (VAS) scores of zero to ten. The company noted that, for the per-protocol population, the 0.05% urcosimod group showed a mean pain score change of 5.5 while the placebo group had a change of 2.75, indicating a 2.75 delta difference between the drug and the placebo after 12 weeks of treatment. In addition, 75% of subjects treated with 0.05% urcosimod achieved an improvement in pain severity of over 80%. The 0.05% therapy showed a marked decrease in pain scores as early as week four, with a mean change of 5.25, compared with 3.0 for the placebo. Although the placebo group also saw improvement, it was notably less than that of the urcosimod group, and 75% of those subjects had only mild NCP pain scores at baseline. In the intent-to-treat subjects, 67% of those in the 0.05% group showed an improvement of more than 50% in pain, versus 33% in the placebo group. The mean decrease in pain severity was 4.2 for the 0.05% therapy group, versus 2.5 for the placebo group. A Cohen-d value of greater than 1.2 indicated a strong treatment impact. Cohen-d is a statistical metric used to evaluate and contrast the effect size of the trial medication with that of the placebo. NCP causes intense pain and sensitivity in the eyes, as well as the face and head. The company noted that the Phase II trial of urcosimod was planned to enrol 48 subjects, but OKYO Pharma closed the trial early in April this year. With 17 subjects having completed the trial, the decision was based on the company's aim to unmask the data for an early readout on the drug's impact. OKYO Pharma CEO Gary Jacob said: 'We are thrilled with these initial top-line results in patients treated with urcosimod from this first in-human Phase II trial. 'In particular, the results strengthen our conviction that this drug may be particularly effective at showing a significant reduction in pain in patients with a greater degree of neuropathic pain.' In 2023, OKYO screened the first subject in its Phase II trial of OK-101 ophthalmic solution to treat dry eye disease (DED). "OKYO reports top-line data from neuropathic corneal pain therapy trial" was originally created and published by Clinical Trials Arena, 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
16-05-2025
- Health
- Yahoo
New Alzheimer's Treatments Could Slow Memory Loss—Here's What to Know
Research is constantly evolving in the world of cognitive health, including for neurological diseases for which there are currently no cures or guaranteed preventive methods. In regards to the most common—Alzheimer's disease—we asked a leading geriatric psychiatrist to offer insights into the latest findings in treatment, screening and holistic care. The current research around treatment is advancing toward disease-modifying therapies to address the underlying biology of Alzheimer's disease in different ways, explains Brent Forester, MD, Psychiatrist-in-Chief and Chair for the Department of Psychiatry at Tufts Medical Center, Director of Behavioral Health for Tufts Medicine and Professor of Psychiatry. Here we break down both the existing medications to help with cognitive complaints as well as those still in clinical trials or development. There are currently two medications that are approved by the Food and Drug Administration (FDA) for the treatment of Alzheimer's: donanemab (brand name Kisunla) and lecanemab (brand name Leqembi). The two recently introduced compounds are anti-amyloid therapeutics, meaning they are designed to stick to and help remove amyloid beta protein. Abnormal buildup of amyloid plaques in the brain is believed to contribute to memory loss. And while removing these proteins appears to slow disease progression, neither medication will completely stop or reverse Alzheimer's. 'We know for sure based on the research that's been done that when you look at before-and-after of amyloid brain scans, amyloid is high and then it essentially goes completely away after treatment,' confirms Dr. Forester. Dr. Forester emphasizes that these drugs are most effective when administered in people with early stages of Alzheimer's disease before significant cognitive decline occurs. Once someone is no longer able to function, drive or pay their bills, even if amyloid is removed from the brain, it's too late for the drugs to have a clinically-beneficial effect. 'There's only a [specific] window where these will potentially be beneficial, and that is in the mild cognitive impairment (MCI) stage, where there is mild cognitive impairment and normal functioning, or in the very mild Alzheimer's-type dementia stage where people are just mildly affected from a cognitive and functional standpoint,' explains Dr. Forester. Right now, these drugs are only approved and available to be delivered through intravenous infusions. That means people are required to come into an infusion center either every other week or once a month to get an hour-long IV treatment, he notes. There are also side effects associated with the drugs, especially those that may present more serious complications. Dr. Forester says two big concerns are bleeding or swelling of the brain, for which certain genetic factors can increase risk. Over the next few years, it is likely that Alzheimer's drugs examining specific tangled protein fibers in the brain will advance through clinical trials, predicts Dr. Forester. 'There are also a number of compounds being studied to address other pathways that have not been addressed thus far,' he says. 'These are more directed at inflammation, energy metabolism, oxidative stress—more basic underlying pathways that contribute to the disease.' There is currently no definitive diagnostic method for Alzheimer's. According to the National Institute on Aging, if cognitive decline is suspected, doctors may ask a patient (or a family member) if they are experiencing certain symptoms and ask questions about their overall health, use of prescription and over-the-counter medicines, diet, past medical problems, ability to carry out daily activities and changes in behavior and personality. To land on a diagnosis of Alzheimer's, doctors may also: Conduct tests of memory, problem solving, attention, counting and language Order blood, urine and other standard medical tests to rule out other conditions Administer a psychiatric evaluation to determine if depression or another mental health condition is causing or contributing to a person's symptoms Collect cerebrospinal fluid (CSF) via a spinal tap and measure the levels of proteins associated with Alzheimer's and related dementias Perform various brain scans Dr. Forester notes that researchers are also getting 'very close' to having a blood-based biomarker that could be used for clinical practice. The two purposes of a biomarker would be to find the disease early enough that a difference could be made from a treatment perspective, as well as to track the effectiveness of the treatment. 'Once an individual advances past the early dementia stage, these new treatments are ineffective, so it's really important to talk to your doctor right away and ask what could be helpful,' he advises. 'Don't be afraid.' Advancements in Alzheimer's Treatment: Research is progressing towards disease-modifying therapies for Alzheimer's, focusing on addressing the underlying biology of the disease. Two FDA-approved medications, donanemab and lecanemab, are designed to remove amyloid beta protein, which is believed to contribute to memory loss. Effectiveness and Administration of Current Drugs: These drugs are most effective in the early stages of Alzheimer's, specifically during mild cognitive impairment (MCI) or very mild dementia stages. They are administered through intravenous infusions, but come with potential side effects like brain bleeding or swelling. New Medications in Development: Future Alzheimer's treatments may target tangled protein fibers and other pathways like inflammation and oxidative stress. These developments are expected to progress through clinical trials in the coming years. Testing and Diagnosis: Currently, there is no definitive diagnostic method for Alzheimer's. Diagnosis involves a combination of cognitive tests, medical evaluations and brain scans. Researchers are close to developing a blood-based biomarker for early detection and treatment tracking. Importance of Early Detection: Early detection is crucial as new treatments are ineffective once the disease progresses beyond the early dementia stage. Patients are encouraged to consult their doctors early if cognitive decline is suspected. An AI tool helped compile and summarize the key takeaways in this story. The story was then edited by Woman's World staff. More cognitive decline: Early Signs of Dementia in Women Doctors Say You Shouldn't Ignore—It Can Even Raise Your Cholesterol Can Your Vision Predict Your Dementia Risk? Research Suggests It Can Certain Alzheimer's Risks May Be Within Your Control, Say Doctors: How to Keep Your Mind SharpThis content is not a substitute for professional medical advice or diagnosis. Always consult your physician before pursuing any treatment plan.
CBS News
15-05-2025
- CBS News
Father's face slashed outside Boston hospital in random attack
It was an encounter that nearly cost John Baglio his life outside Tufts Medical Center last Friday night. His face was slashed by a total stranger who pounced on him as he and his wife took a break outside the hospital while his son was being treated for an emergency heart condition inside. "This guy was coming at me to fight me and hurt me. I think he had murder on his mind," said Baglio. The alleged attacker, 45-year-old Wilfredo Burgos who police describe as homeless, is the man Baglio says he got into a hockey-type fight with in a chance encounter. He also has a black eye from the punches thrown, but it was the unknown weapon Burgos allegedly had that had Baglio fighting back. "He was doing this motion, I'm like what's going on with this guy, slashing for my stomach," Baglio said. "I tried to keep an eye on him and look at him." Suspect described as delusional Police say Burgos, described in court as delusional and paranoid on crack cocaine, had a crack pipe on him, but John Baglio is convinced it was a razor based on the nature of the cut that required more than two hours of surgery and 56 stitches. It took all his strength to subdue him. "I pushed him far enough along where I just threw him right over onto the street and mounted him so now he's underneath me and I had the advantage position," Baglio said. His wife ran to press a nearby emergency blue call box to alert hospital security who quickly responded along with police who arrested Burgos not far from the scene. Throughout the struggle Baglio says he never realized he had been seriously cut until he saw all the blood and it was finally over. "It's scary to think of, I've had a lot of loss in my life," Baglio said. Baglio is an elementary school music teacher anxious to get back to his life while Burgos will undergo a 20-day mental health evaluation. "I'll take as many scars to the face as I have to, but I'm not letting this guy end me," Baglio said. "That's what I was thinking."
