Health
In Alzheimer’s breakthrough, researchers identify ‘protective gene’ that delays disease in high-risk family
A significant Alzheimer’s study is shedding new light on a protective gene that appears to delay the disease in those destined to develop it.
Researchers from two Mass General Brigham hospitals — Mass Eye and Ear and Massachusetts General Hospital — have been studying a large extended family in Colombia with multiple members who have the Paisa mutation, which predicts an extremely high genetic risk of developing early-onset Alzheimer’s disease.
Most people with the Paisa variant develop mild cognitive impairment in their 40s, develop dementia in their 50s and die from complications of dementia in their 60s, according to a press release.
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Among more than 1,000 high-risk family members, 27 of them who have one copy of a rare gene variant — the APOE3 gene, known as Christchurch — reported a delayed onset of symptoms.
A significant Alzheimer’s study sheds new light on a protective gene that appears to delay the disease in those destined to develop it. (iStock)
On average, they developed signs of Alzheimer’s five years later than those who did not have the variant, the researchers found.
By comparison, the drugs currently available for Alzheimer’s slow the disease’s progression by only around six months.
The study findings, published Wednesday in The New England Journal of Medicine, could have important implications for drug development.
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This is a follow-up to a 2019 study in which a woman from the same family who had two copies of the protective APOE3 Christchurch variant did not experience any disease symptoms until her 70s — decades later than the average age of onset, 44.
Joseph F. Arboleda-Velasquez, M.D., PhD, an associate scientist at Mass Eye and Ear who worked on the study, is originally from Colombia, where he spent years studying that woman’s case as part of his medical training.
Imaging scans showed reduced signs of tau and amyloid plaques, the proteins that build up in the brains of Alzheimer’s patients. (iStock)
“It really took the world by storm, the Colombian woman who beat Alzheimer’s — it was an amazing discovery,” he told Fox News Digital.
“But also, we had to be very careful. Was it really true? Could it be reproduced? It would be amazing if we could develop treatments that replicate the effect of the Christchurch variant, but we didn’t have enough evidence.”
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“So, back then, we started this very extensive project of trying to find more individuals who also had Christchurch to see if they were also protected.”
In this latest study, researchers analyzed 1,077 descendants of the Colombian family, narrowing the focus to the 27 people who carried both the Paisa mutation and one copy of the protective Christchurch variant.
“This could really transform lives — not just of the individual, but at the population level.”
On average, these 27 family members began showing signs of cognitive impairment at age 52 — compared to age 47 for those without the Christchurch variant.
For two of the individuals, imaging scans showed reduced signs of tau and amyloid plaques, the proteins that build up in the brains of Alzheimer’s patients, the press release stated.
While the original woman might have been dismissed as a “one-time wonder,” said Arboleda-Velasquez, this new study provides more evidence that could help support building a drug development program.
A doctor points out evidence of Alzheimer’s disease on PET scans at the Center for Alzheimer Research and Treatment at Brigham And Women’s Hospital in Boston, Massachusetts. (REUTERS/Brian Snyder/File Photo)
“Now, instead of one person, we have 27 more men and women — some who work, some who are retired, some in rural areas, some in the city — who all have the Christchurch variant and are all protected,” he said.
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“And now we can move forward with trying to develop therapies that do exactly the same thing.”
He added, “This could really transform lives — not just of the individual, but at the population level.”
The study did have some limitations, the researchers acknowledged.
It analyzed a relatively small number of people carrying both the Paisa and Christchurch variants, all belonging to a single (albeit large) family.
Researchers from two Mass General Brigham hospitals — Mass Eye and Ear and Massachusetts General Hospital — led the new study. (iStock)
Additional studies including larger, more diverse groups are needed to confirm the variant’s protective effect and determine the targets of potential treatments, researchers said.
Some experimental therapies are already being developed, Arboleda-Velasquez noted.
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“A lot of people were very intrigued by the initial Christchurch finding [in 2019], and now this is different,” he said.
“This is a call to action — a call to make drugs that can leverage this discovery.”
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This story discusses suicide. If you or someone you know is having thoughts of suicide, please contact the National Suicide Prevention Lifeline at 988 or 1-800-273-TALK (8255).
A 30-year-old man has been asking people he doesn’t know to sit with him in pubs across the country ever since December of last year, as part of what he calls his “Empty Chairs” campaign.
Dean Perryman came up with the idea after his best friend, Rob Clancy, tragically died by suicide at age 29 just a month earlier.
Wanting to make sure nobody else ever felt alone — even perfect strangers — Perryman started heading out to restaurants and pubs wearing a bright orange hoodie to make his presence obvious to anyone choosing to chat with him.
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Just a few weeks ago, he held his program’s 1,000th meet-up in Leigh-on-Sea, Essex, featuring about 12 attendees — and said he’s proud of how far it has come.
“It has been such an incredible experience. I am loving every second of it still,” the resident of Stratford in East London told news agency SWNS.
Dean Perryman, second from right, has been inviting strangers to sit with him in pubs to help let people know they aren’t alone in life. (Dean Perryman/SWNS)
“When I started, it came from such a place of sadness — and to see how this simple idea has been able to help so many people has been really nice,” he said. “I have been able to meet and connect with so many new people and learn about them. It gives people an opportunity to speak openly if they need it.”
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Perryman works for team-building game company Chicken Rush. He used social media, he said, to create interest in the “Empty Chair” idea, he said.
The events started in London and Essex before the founder began recruiting volunteers to host them across the U.K. — and the rest of the world as well.
Events have since been planned in Manchester, Bedford, Cambridge, Skegness, Gloucester, Leeds, York, Wrexham, and more.
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It has also branched out to other countries, including Colombia, Spain, the United Arab Emirates and Australia.
He said lots of people actually return to the events, especially in smaller rural towns, as people create and build friendships that last long afterward.
Perryman, in orange sweatshirt, back row, has been inviting strangers to sit with him in pubs to encourage connection. “There really isn’t a barrier to entry,” he said. “Whoever needs the space is welcome to come.” (Dean Perryman/SWNS)
Perryman, who has attended 61 himself, said his favorite part of the events is seeing men open up about their troubles, as he feels they need a safe space to do so.
“Some people come because they really want someone to listen to what they have to say,” he said. “Others come because they have the capacity to be there for someone else. Everyone shares their own story, but it stays at the table.”
“No matter who you are, there is a place for you.”
He said the groups have “talked about the difficulty of living in a big city and feeling isolated, but nothing is off the table — we’ve spoken about everything and anything. To give people a place that they can go when they need to talk is incredible.”
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Perryman said he has about 200 more events already lined up — and said he has no plans to stop scheduling them, SWNS reported.
He said there is no pattern in terms of who shows up. Usually, it’s a diverse group of people.
Perryman, right, has been asking people he doesn’t know to sit with him in pubs as part of his “Empty Chairs” suicide prevention campaign. (Dean Perryman/SWNS)
“Every Empty Chairs event you go to, you are going to meet people of different walks of life,” he said. “It is so powerful to show that, no matter who you are, there is a place for you. We have everyone — men, women, young, old. There really isn’t a barrier to entry for this. Whoever needs the space is welcome to come.”
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He also said, “A lot of people come because they’re feeling lonely in a new area, or they want to make new friends.”
He said he hopes that his Empty Chairs campaign can be a lasting legacy for his best friend, Rob — someone he believes needed a similar space.
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“He was the kindest, sweetest guy you could ever hope to meet,” said Perryman. “Like a lot of men, he wasn’t the biggest sharer. He was very much the life and soul of anywhere you went, but he wasn’t someone who would be the first to open up about it if he was feeling some type of way.”
“To now be in a position where Empty Chairs looks like it could be a legacy for Rob is amazing,” Perryman added.
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Family medicine physician Dr. Jessica Gray explains that new data shows Americans are living longer, reversing a COVID-era trend. She highlights factors like declining drug overdoses, especially fentanyl, and improved cancer survival rates due to immunotherapy advancements and decreased tobacco use. Gray notes 2025 preliminary data looks even better for U.S. life expectancy.
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A 78-year-old Oklahoma woman who was diagnosed with polio as a child and was the last American to rely on an iron lung to live has died.
Martha Lillard found out she had the once-feared disease when she was 5 years old, which left her paralyzed from the neck down, and required her to use the machine to help her breathe while she slept.
Lillard contracted COVID-19 twice during the pandemic, which left her in the machine nearly 24 hours a day.
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“They told her she wasn’t supposed to live past 20 years old,” her younger sister, Cindy McVey, told The Associated Press on Friday. “She had the enthusiasm and the drive to continue living and make the best of her life.”
Despite having polio, Lillard was able to go to school two hours a day as a child, and she had tutors the rest of the time. She also used an intercom phone system that allowed her to interact with her teachers and classmates from home.
Martha Lillard rests in her iron lung in Shawnee, Oklahoma. (Cindy McVey/AP Photo, File)
Lillard was even able to take road trips as a child because of a custom trailer that could accommodate the iron lung and her father making sure their hotels had wide enough doors for the machine.
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An iron lung is a negative-pressure ventilator that would help a patient with paralyzed lung muscles breathe.
A row of iron lungs is seen inside in a Los Angeles hospital in 1950. (Bettmann Archive)
The disease once caused thousands of cases of paralysis in children during outbreaks each year in the first part of the 20th century before a vaccine became available in 1955.
By 1979, polio was considered eliminated in the U.S.
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Later, Lillard was able to regain the use of her left arm and legs through therapy and was even able to drive for a time.
She lived independently for many years, even getting married earlier this year to a man from Egypt she corresponded with for two decades after he was able to obtain a visa.
A nurse prepares children for a polio vaccine shot as part of a citywide vaccine test on elementary school students. (Bettmann Archive)
“They were really soul mates,” McVey said. “He’s extremely brokenhearted.”
Lillard, who wrote poetry and volunteered with the Humane Society, according to her sister, had just 25% lung capacity before she was diagnosed with COVID.
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She died of chronic pulmonary failure and post-polio syndrome, according to her death certificate.
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Her sister added that it was related to the effects of long-haul COVID.
The Associated Press contributed reporting.
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Dr. Courtney Conley and Dr. Milica McDowell, authors of “Walk,” explain the extensive benefits of walking for physical and mental health. They join Steve Doocy to emphasize “Vitamin W” as an accessible activity, discussing how increasing daily steps from the current average of 5,000 to a brisk pace of 130 steps per minute can boost longevity. They also highlight “movement snacks” for overall wellness.
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Reducing your risk of cancer death may be as simple as taking brief breaks for physical activity throughout the day, according to a new observational study.
The study, led by researchers from the University of Glasgow studying the association between cancer and prolonged sedentary behavior, found that participants who regularly interrupted prolonged sitting with physical activity had a lower risk of cancer death.
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“This study adds to growing evidence that prolonged sedentary behavior is an independent health risk,” Dr. Georgia Spear, chief of breast imaging at Northwestern Medicine, told Fox News Digital.
“While it does not prove that sitting causes cancer, it suggests that long, uninterrupted periods of sitting are associated with a higher risk of cancer mortality,” Spear explained. “The findings reinforce existing public-health recommendations that regular movement throughout the day is an important component of cancer prevention.”
Prolonged sedentary periods are associated with increased risk of cancer death, researchers observed. (iStock)
The researchers monitored 91,292 volunteer participants in the U.K. who wore movement-tracking devices on their wrists for seven days to track their sedentary habits. The scientists followed the volunteers’ health outcomes over the course of about 12 years.
The researchers defined prolonged sedentary behavior as any bout that lasted “at least 30 minutes and during which at least 90% of the time was sedentary.”
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They defined interrupted sitting as sessions that lasted fewer than 30 minutes or were interrupted by brief periods of physical activity.
Each additional hour per day of prolonged sedentary behavior was associated with a 10% higher risk of cancer death, the researchers reported in their study, published by PLOS Medicine.
Light physical activity, including household chores, such as ironing, are associated with reduced cancer death risk. (iStock)
Replacing one hour of sitting each day with light activity was associated with a 12% lower risk of cancer death. Replacing 30 minutes with moderate activity was linked to an 8% lower risk, and replacing just five minutes with vigorous activity was associated with a 22% lower risk.
The researchers classified light physical activity as walking at a low speed and performing household chores, such as ironing a shirt or washing dishes.
These findings should be interpreted with caution, the researchers wrote, “because the study cannot prove causality.”
The volunteers may not represent the wider population, they noted, “and the activity monitor captured behavior only during a limited period without showing the context of sedentary behavior, such as work, television viewing or driving.”
Spear said that existing research has linked sedentary behavior to obesity, diabetes, cardiovascular disease and several cancers.
Breaking up periods of sitting or reclining with physical activity is key to reducing the risk of cancer death, researchers found. (iStock)
“What is notable here is the finding that how people sit appears to matter, not just the total amount,” she said. “Breaking up sitting with regular movement may provide measurable health benefits.”
According to Spear, other simple lifestyle strategies can be highly effective at reducing cancer-death risk.
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“Stand and move every 30 to 60 minutes, take short walking breaks, including after meals, use the stairs, walk during phone calls and incorporate light activity throughout the day,” she recommended.
“Combined with regular exercise, maintaining a healthy weight, limiting alcohol, not smoking and staying current with recommended cancer screening, these habits can help reduce the risk of breast cancer and other chronic diseases.”
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