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Children with inherited deafness hear for first time through experimental gene therapy

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Children with inherited deafness hear for first time through experimental gene therapy
  • Gene therapy has successfully restored hearing in some children born with inherited deafness, health officials say.
  • A study in China and another at the Children’s Hospital of Philadelphia documented significant improvements in hearing in treated children.
  • Cochlear implants are commonly used for children with hereditary deafness, but gene therapy offers a potential treatment.

Gene therapy has allowed several children born with inherited deafness to hear.

A small study published Wednesday documents significantly restored hearing in five of six kids treated in China. On Tuesday, the Children’s Hospital of Philadelphia announced similar improvements in an 11-year-old boy treated there. And earlier this month, Chinese researchers published a study showing much the same in two other children.

So far, the experimental therapies target only one rare condition. But scientists say similar treatments could someday help many more kids with other types of deafness caused by genes. Globally, 34 million children have deafness or hearing loss, and genes are responsible for up to 60% of cases. Hereditary deafness is the latest condition scientists are targeting with gene therapy, which is already approved to treat illnesses such as sickle cell disease and severe hemophilia.

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Children with hereditary deafness often get a device called a cochlear implant that helps them hear sound.

Dr. Yilai Shu examines a young patient at the Eye & ENT Hospital of Fudan University in Shanghai, China, after a gene therapy procedure for hereditary deafness. Gene therapy has allowed several children born with inherited deafness to hear. (Courtesy Dr. Yilai Shu via AP)

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“No treatment could reverse hearing loss … That’s why we were always trying to develop a therapy,” said Zheng-Yi Chen of Boston’s Mass Eye and Ear, a senior author of the study published Wednesday in the journal Lancet. “We couldn’t be more happy or excited about the results.”

The team captured patients’ progress in videos. One shows a baby, who previously couldn’t hear at all, looking back in response to a doctor’s words six weeks after treatment. Another shows a little girl 13 weeks after treatment repeating father, mother, grandmother, sister and “I love you.”

All the children in the experiments have a condition that accounts for 2% to 8% of inherited deafness. It’s caused by mutations in a gene responsible for an inner ear protein called otoferlin, which helps hair cells transmit sound to the brain. The one-time therapy delivers a functional copy of that gene to the inner ear during a surgical procedure. Most of the kids were treated in one ear, although one child in the two-person study was treated in both ears.

The study with six children took place at Fudan University in Shanghai, co-led by Dr. Yilai Shu, who trained in Chen’s lab, which collaborated on the research. Funders include Chinese science organizations and biotech company Shanghai Refreshgene Therapeutics.

Researchers observed the children for about six months. They don’t know why the treatment didn’t work in one of them. But the five others, who previously had complete deafness, can now hear a regular conversation and talk with others. Chen estimates they now hear at a level around 60% to 70% of normal. The therapy caused no major side effects.

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Preliminary results from other research have been just as positive. New York’s Regeneron Pharmaceuticals announced in October that a child under 2 in a study they sponsored with Decibel Therapeutics showed improvements six weeks after gene therapy. The Philadelphia hospital — one of several sites in a test sponsored by a subsidiary of Eli Lilly called Akouos — reported that their patient, Aissam Dam of Spain, heard sounds for the first time after being treated in October. Though they are muffled like he’s wearing foam earplugs, he’s now able to hear his father’s voice and cars on the road, said Dr. John Germiller, who led the research in Philadelphia.

“It was a dramatic improvement,” Germiller said. “His hearing is improved from a state of complete and profound deafness with no sound at all to the level of mild to moderate hearing loss, which you can say is a mild disability. And that’s very exciting for us and for everyone. “

Columbia University’s Dr. Lawrence Lustig, who is involved in the Regeneron trial, said although the children in these studies don’t wind up with perfect hearing, “even a moderate hearing loss recovery in these kids is pretty astounding.”

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Still, he added, many questions remain, such as how long the therapies will last and whether hearing will continue to improve in the kids.

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Also, some people consider gene therapy for deafness ethically problematic. Teresa Blankmeyer Burke, a deaf philosophy professor and bioethicist at Gallaudet University, said in an email that there’s no consensus about the need for gene therapy targeting deafness. She also pointed out that deafness doesn’t cause severe or deadly illness like, for example, sickle cell disease. She said it’s important to engage with deaf community members about prioritization of gene therapy, “particularly as this is perceived by many as potentially an existential threat to the flourishing of signing Deaf communities.”

Meanwhile, researchers said their work is moving forward.

“This is real proof showing gene therapy is working,” Chen said. “It opens up the whole field.”

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Heart disease threat projected to climb sharply for key demographic

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Heart disease threat projected to climb sharply for key demographic

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A new report by the American Heart Association (AHA) included some troubling predictions for the future of women’s health.

The forecast, published in the journal Circulation on Wednesday, projected increases in various comorbidities in American females by 2050.

More than 59% of women were predicted to have high blood pressure, up from less than 49% currently.

The review also projected that more than 25% of women will have diabetes, compared to about 15% today, and more than 61% will have obesity, compared to 44% currently.

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As a result of these risk factors, the prevalence of cardiovascular disease and stroke is expected to rise to 14.4% from 10.7%.

The prevalence of cardiovascular disease and stroke in women is expected to rise to 14.4% from 10.7% by 2050. (iStock)

Not all trends were negative, as unhealthy cholesterol prevalence is expected to drop to about 22% from more than 42% today, the report stated.

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Dr. Elizabeth Klodas, a cardiologist and founder of Step One Foods in Minnesota, commented on these “jarring findings.”

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“The fact that on our current trajectory, cardiometabolic disease is projected to explode in women within one generation should be a huge wake-up call,” she told Fox News Digital.

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“Hypertension, diabetes, obesity — these are all major risk factors for heart disease, and we are already seeing what those risks are driving. Heart disease is the No. 1 killer of women, eclipsing all other causes of death, including breast cancer.”

Cardiovascular disease is the leading cause of death for women in the U.S. and around the world. (iStock)

Klodas warned that heart disease starts early, progresses “stealthily,” and can present “out of the blue in devastating ways.”

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The AHA published another study on Thursday revealing one million hospitalizations, showing that heart attack deaths are climbing among adults below the age of 55.

The more alarming finding, according to Klodas, is that young women were found more likely to die after their first heart attack than men of the same age.

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“This is all especially tragic since heart disease is almost entirely preventable,” she said. “The earlier you start, the better.”

Children can show early evidence of plaque deposition in their arteries, which can be reversed through lifestyle changes if “undertaken early enough and aggressively enough,” according to the expert.

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Moving more is one part of protecting a healthy heart, according to experts. (iStock)

Klodas suggested that rising heart conditions are associated with traditional risk factors, like smoking, high blood pressure, high cholesterol, diabetes, obesity and a sedentary lifestyle.

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Doctors are also seeing higher rates of preeclampsia, or high blood pressure during pregnancy, as well as gestational diabetes. Klodas noted that these are sex-specific risk factors that don’t typically contribute to complications until after menopause.

The best way to protect a healthy heart is to “do the basics,” Klodas recommended, including the following lifestyle habits.

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Klodas especially emphasized making improvements to diet, as the food people eat affects “every single risk factor that the AHA’s report highlights.”

“High blood pressure, high blood sugar, high cholesterol, excess weight – these are all conditions that are driven in part or in whole by food,” she said. “We eat multiple times every single day, which means what we eat has profound cumulative effects over time.”

“Even a small improvement in dietary intake, when maintained, can have a massive positive impact on health,” a doctor said. (iStock)

“Even a small improvement in dietary intake, when maintained, can have a massive positive impact on health.”

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The doctor also recommends changing out a few snacks per day for healthier choices, which has been proven to “yield medication-level cholesterol reductions” in a month.

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“Keep up that small change and, over the course of a year, you could also lose 20 pounds and reduce your sodium intake enough to avoid blood pressure-lowering medications,” Klodas added.

“Women should not view the AHA report as inevitable. We have power over our health destinies. We just need to use it.”

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Vanessa Williams, 62, Opens up About Weight Loss and HRT After Menopause

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Vanessa Williams, 62, Opens up About Weight Loss and HRT After Menopause


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Common vision issue linked to type of lighting used in Americans’ homes

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Common vision issue linked to type of lighting used in Americans’ homes

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Nearsightedness (myopia) is skyrocketing globally, with nearly half of the world’s population expected to be myopic by 2050, according to the World Health Organization.

Heavy use of smartphones and other devices is associated with an 80% higher risk of myopia when combined with excessive computer use, but a new study suggests that dim indoor lighting could also be a factor.

For years, scientists have been puzzled by the different ways myopia is triggered. In lab settings, it can be induced by blurring vision or using different lenses. Conversely, it can be slowed by something as simple as spending time outdoors, research suggests.

Nearsightedness occurs when the eyeball grows too long from front to back, according to the American Optometric Association (AOA). This physical elongation causes light to focus in front of the retina rather than directly on it, making distant objects appear blurry.

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The study suggests that myopia isn’t caused by the digital devices themselves, but by the low-light environments where they are typically used. (iStock)

Researchers at the State University of New York (SUNY) College of Optometry identified a potential specific trigger for this growth. When someone looks at a phone or a book up close, the pupil naturally constricts.

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“In bright outdoor light, the pupil constricts to protect the eye while still allowing ample light to reach the retina,” Urusha Maharjan, a SUNY Optometry doctoral student who conducted the study, said in a press release.

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“When people focus on close objects indoors, such as phones, tablets or books, the pupil can also constrict — not because of brightness, but to sharpen the image,” she went on. “In dim lighting, this combination may significantly reduce retinal illumination.”

High-intensity natural light prevents myopia because it provides enough retinal stimulation to override the “stop growing” signal, even when pupils are constricted. (iStock)

The hypothesis suggests that when the retina is deprived of light during extended close-up work, it sends a signal for the eye to grow.

In a dim environment, the narrowed pupil allows so little light through that the retinal activity isn’t strong enough to signal the eye to stop growing, the researchers found.

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In contrast, being outdoors provides light levels much brighter than indoors. This ensures that even when the pupil narrows to focus on a nearby object, the retina still receives a strong signal, maintaining healthy eye development.

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The team noted some limitations of the study, including the small subject group and the inability to directly measure internal lens changes, as the bright backgrounds used to mimic the outdoors made pupils too small for standard equipment.

Researchers believe that increasing indoor brightness during close-up work could be a simple, testable way to slow the global nearsightedness epidemic. (iStock)

“This is not a final answer,” Jose-Manuel Alonso, MD, PhD, SUNY distinguished professor and senior author of the study, said in the release.

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“But the study offers a testable hypothesis that reframes how visual habits, lighting and eye focusing interact.”

The study was published in the journal Cell Reports.

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