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Intellectual disability disorder may be linked to a single, 'surprising' gene, research shows

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Intellectual disability disorder may be linked to a single, 'surprising' gene, research shows
  • Scientists have identified the genetic basis of a disorder causing intellectual disability, affecting approximately one in 20,000 young people.
  • The disorder is characterized by symptoms including short stature, small heads, seizures and low muscle mass.
  • The discovery is expected to facilitate the development of a new diagnostic method, providing answers to affected families.

Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.

Those with the condition have a constellation of issues, which also include short stature, small heads, seizures and low muscle mass, said the researchers, who published their findings in the journal Nature Medicine on Friday.

“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study.

CHILDREN WITH INHERITED DEAFNESS HEAR FOR FIRST TIME THROUGH EXPERIMENTAL GENE THERAPY

Syndromes like these can go unnoticed because the traits are sometimes so subtle doctors can’t recognize them by just looking at patients, said Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study.

This microscope image shows the 46 human chromosomes, blue, with telomeres appearing as white pinpoints. Scientists have found the genetic cause of a neurodevelopmental disorder that they estimate affects as many as one in 20,000 young people. (Hesed Padilla-Nash, Thomas Ried/National Cancer Institute/National Institutes of Health via AP, File)

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“So certainly this wasn’t something that we necessarily had a name for,” he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”

Researchers said the mutations occurred in a small “non-coding” gene, meaning it doesn’t provide instructions for making proteins. Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability in general are protein-coding genes. Most large genetic studies so far have used a sequencing technology that typically leaves out genes that don’t code for proteins.

This study used more comprehensive “whole-genome” sequencing data from 77,539 people enrolled in the British 100,000 Genomes Project, including 5,529 with an intellectual disability. The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential to develop intellectual disability.

The finding “opens the door to diagnoses” for thousands of families, said study author Andrew Mumford, research director of the South West England NHS Genomic Medicine Service.

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More research is needed, Mumford said. How the mutation causes the disorder remains unclear and there is no treatment. But Billington said labs should be able to offer testing for this condition relatively quickly. And researchers said families should be able to find and support each other – and know they’re not alone.

“That can be incredibly comforting,” Mumford said.

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Doctors thought man had brain cancer — they found live tapeworms instead

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Doctors thought man had brain cancer — they found live tapeworms instead

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Doctors thought a 60-year-old man had metastatic brain cancer after scans revealed multiple tumors – but further testing revealed a shocking diagnosis.

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The Spanish man, who was not named, was found to have a parasitic tapeworm larvae lodged in his brain — a case of neurocysticercosis, a parasitic infection of the central nervous system caused by the pork tapeworm (Taenia solium).

The patient, a lifelong resident of Castellón, Spain, had not traveled to any regions where the disease is endemic, according to the case report published in the CDC journal Emerging Infectious Diseases.

DEADLY ‘FOX TAPEWORM’ LINKED TO LETHAL DISEASE DETECTED IN WEST COAST WILDLIFE

The man had initially come to the hospital after suffering two weeks of progressive headaches and mild behavioral changes.

Radiologic findings from a study of autochthonous neurocysticercosis brain lesions mimicking metastatic disease. (Emerging Infectious Diseases)

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CT scans showed multiple abnormal spots that looked like tumors that had spread from cancer elsewhere in the body, leading doctors to suspect advanced brain cancer.

However, whole-body scans, a colonoscopy and specialized imaging failed to identify cancer anywhere in the patient’s body, the case report stated.

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When doctors performed a more detailed MRI, they discovered several fluid-filled cysts in the brain, some of which contained the head of a tapeworm. A blood test confirmed the diagnosis of neurocysticercosis.

The man was treated with a combination of albendazole and praziquantel (two antiparasitic medications), as well as corticosteroids to reduce inflammation. He successfully recovered with no complications, according to the case report.

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CT scans (not pictured) showed multiple abnormal spots that looked like tumors that had spread from cancer elsewhere in the body, leading doctors to suspect advanced brain cancer. (iStock)

The authors suggested that the patient may have gotten the infection after accidentally ingesting microscopic tapeworm eggs years earlier.

The exposure may have occurred while working a construction job with migrant coworkers from regions where neurocysticercosis is endemic.

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People can catch the pork tapeworm in two different ways. Eating undercooked infected pork usually leads to an intestinal tapeworm, but accidentally swallowing the parasite’s eggs — typically through food or water contaminated with feces — can send the larvae into the bloodstream, where they may form cysts in the brain and other organs. This can cause the disease the patient in the case report acquired.

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A photomicrograph shows histopathologic features in a brain tissue specimen from a case of neurocysticercosis caused by the pork tapeworm Taenia solium. The image documents pathological changes associated with this parasitic infection. (Smith Collection/Gado/Getty Images)

As this was just a single case, the source of transmission could not be proven, the researchers acknowledged, and the findings cannot be generalized to a wider population. The report shows that there is a possibility of local transmission in non-endemic settings, but cannot establish how often this occurs.

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In the United States, less than 2% of neurocysticercosis cases are considered domestically acquired, according to the case report.

A prior systematic review identified only 18 confirmed locally acquired cases in Western Europe between 1990 and 2011.

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The authors suggested that the patient may have gotten the infection after accidentally ingesting microscopic tapeworm eggs years earlier. (Associated Press)

In some cases, NCC can cause serious symptoms, including seizures, stroke, neurological deficits and cognitive decline.

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“Our case emphasizes that the absence of travel history should not preclude NCC from the differential diagnosis of multiple ring-enhancing brain lesions, even in regions where metastatic cancer is statistically much more likely,” the researchers concluded in the case study.

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Detecting the worms earlier could have prevented “unnecessary invasive oncologic procedures and led to prompt, targeted antiparasitic therapy,” they added.

Fox News Digital reached out to the researchers for comment.

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Rare tick-borne virus turns deadly fast as US cases reach record high, experts warn

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Rare tick-borne virus turns deadly fast as US cases reach record high, experts warn

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A rare and potentially fatal tick-borne illness currently spreading across the United States can be traced back to a 1958 case involving a young boy on a farm.

The disease, known as Powassan virus, was named for the Ontario town near where it was first discovered.

At the time of his death, Lincoln Byers, a 4-year-old living in Canada, had a condition that medical professionals could not explain, the Boston Globe reported.

DEADLY ‘FOX TAPEWORM’ LINKED TO LETHAL DISEASE DETECTED IN WEST COAST WILDLIFE

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Years later, researchers discovered a tick harboring the same virus on a dead squirrel, finally providing an answer to the tragedy, but foreshadowing a growing public health challenge.

While once considered an obscure medical anomaly, Powassan virus cases have reached historic highs in the U.S., data show.

Powassan is most prevalent from late spring through mid-fall, when tick populations peak and outdoor activity increases. (iStock)

According to the Centers for Disease Control and Prevention, 76 Americans were diagnosed with the virus in 2025, the highest annual total on record. Previously, the U.S. averaged just seven to eight diagnoses each year.

The virus is primarily transmitted to humans through the bite of an infected woodchuck tick or deer tick. Like other tick-borne illnesses, Powassan is most prevalent from late spring through mid-fall, when tick populations peak and outdoor activity increases.

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Public health experts warn that the virus’s transmission speed makes it uniquely dangerous.

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“One of the most dangerous aspects is its rapid transmission,” Dr. Jorge P. Parada, a medical advisor at the National Pest Management Association in Chicago, told Fox News Digital.

“Powassan can be transmitted in as little as 15 minutes after the infected tick bites, while Lyme disease usually requires a 36- to 48-hour attachment time for transmission.”

Powassan carries an incubation period of one to four weeks before symptoms manifest. (iStock)

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Parada noted that while Powassan remains rare compared to Lyme disease, it poses clinical concern.

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Dr. Marc Siegel, senior medical analyst for Fox News, confirmed that the virus transmits significantly faster than Lyme disease. He noted that Powassan carries an incubation period of one to four weeks before symptoms manifest.

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Initial symptoms include fever, headache, vomiting and weakness, though some infected individuals remain asymptomatic, according to the CDC.

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There are currently no specific medications or vaccines to treat or prevent Powassan virus. (iStock)

The virus can progress to severe neurological complications, including encephalitis (inflammation of the brain) and meningitis (inflammation of the spinal cord membranes).

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In severe cases, patients may experience confusion, loss of coordination, difficulty speaking and seizures, per the CDC.

“One of the most dangerous aspects of it is its rapid transmission.”

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Approximately 10% of Powassan cases involving severe neurological disease are fatal, and many survivors experience long-term neurological issues.

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There are currently no specific medications or vaccines to treat or prevent Powassan virus; clinical care is limited to supportive therapy, such as intravenous fluids and respiratory support.

While anyone can develop severe illness, those at the highest risk include children, older adults and immunocompromised individuals, experts caution.

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America’s lifespan has doubled since 1776 — experts reveal what changed

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America’s lifespan has doubled since 1776 — experts reveal what changed

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Americans today live roughly twice as long, on average, as they did when the Declaration of Independence was signed.

When the nation was founded in 1776, life expectancy was around 35 to 40 years old, historians estimate. However, someone who survived childhood in colonial America often lived into their 60s or even 70s.

Today, the average lifespan is about 79 years old, according to data from the Centers for Disease Control and Prevention.

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The improvement in lifespan over the centuries has been largely attributed to reduced deaths in infancy and from infectious diseases, multiple researchers have stated. Advances in sanitation, clean water, nutrition, vaccination and medical care have also contributed to lower mortality rates.

“Much of this vast discrepancy is related to the extremely high rates of infant, childhood and maternal mortality,” Dr. Omer Awan, physician and professor at the University of Maryland School of Medicine, told Fox News Digital.

Americans today live roughly twice as long, on average, as they did when the Declaration of Independence was signed. (Milan Markovic/iStock)

“Childbirth was dangerous, and without antibiotics and vaccines, many infectious diseases, such as measles, smallpox and pneumonia, were deadly,” he went on. “Now we have cleaner water and sanitation, vaccines and antibiotics that have significantly prolonged life.”

Advances in treatments of chronic diseases such as high blood pressure, cancer and diabetes have also significantly prolonged life, the Harvard-trained doctor noted.

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According to the CDC, improved prevention and treatment of high blood pressure has helped reduce deaths from heart disease and stroke, two of the nation’s leading causes of death.

Mia Kazanjian, MD, a Stanford-trained body and breast radiologist with an interest in longevity who is based in Greenwich, Connecticut, attributes the shorter life expectancy in the 1700s to suboptimal sanitation, poor hygiene and limited medical treatments.

Today, the average lifespan is about 79 years old, according to data from the Centers for Disease Control and Prevention. (iStock)

“Many babies and children died from infections like dysentery, diphtheria, scarlet fever and pneumonia,” she told Fox News Digital. Children who survived into adulthood often succumbed to infections like tuberculosis, cholera and typhoid fever.

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Maternal mortality has also fallen dramatically over the past century due to advances in antibiotics, blood transfusions and safer obstetric care, according to the CDC.

Milestones in public health

Kazanjian pointed to several key advancements over the centuries that contributed to longevity improvements, including the development of early municipal water systems that provided cleaner drinking sources.

“Sewer system networks were built, the first in Brooklyn in 1857,” she said. “These allowed people to drink clean water and dispose of waste. Indoor plumbing with toilets and bathrooms became more widespread.”

“Without antibiotics and vaccines, many infectious diseases, such as measles, smallpox and pneumonia, were deadly.”

At this time, people’s understanding of disease started to improve, and public health measures were developed to minimize risk.

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During the late 1800s, germ theory became widely accepted in medicine and public health, helping shape the Sanitary Era, the expert said.

COULD ‘HUMANMAXXING’ ACTUALLY HELP YOU LIVE LONGER? HERE’S WHAT EXPERTS SAY

“The Federal Quarantine Act of 1878 allowed the government to prevent spread of infection from out of the country, from epidemics like yellow fever,” she said. “Food safety regulations went into effect in 1906, when the Pure Food and Drug Act and Federal Meat Inspection Act were passed.”

By 1900, the average life expectancy was about 49 years old, according to the National Vitals Statistics Report.

Another major landmark in increasing lifespan came with the development of vaccines and antibiotics to prevent and treat disease, Kazanjian noted.

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One major landmark in increasing lifespan came with the development of vaccines and antibiotics to prevent and treat disease, experts say. (iStock)

“Jenner developed the smallpox vaccine in 1796, Pasteur created vaccines for rabies and anthrax in the 1880s, and several scientists created vaccines for polio, measles, influenza, mumps and rubella in the mid 1900s,” she said.

“Antibiotics proliferated in the 1940s, specifically penicillin and tetracycline. By 1950, the US life expectancy was about 68 years old.”

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From the mid-20th century to 2014, life expectancy continued to rise, Kazanjian said, largely due to “major gains” in medical knowledge of ways to prevent heart disease and stroke.

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Public health campaigns promoting smoking cessation also played a role, as declining smoking rates helped reduce deaths from lung cancer, heart disease and stroke, according to the CDC.

“Motor vehicles became safer and carseats became staples,” Kazanjian noted.

Modern longevity is more focused on preventing chronic disease and less about surviving childhood infections. (iStock)

According to the National Institutes of Health, advances in emergency medical services and trauma care have substantially reduced deaths after serious injuries.

Development of pharmaceuticals for cardiovascular disease and cancer also contributed to longer lives, according to Kazanjian.

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Today’s longevity challenges

Modern longevity is more focused on preventing chronic disease and less about surviving childhood infections, noted Nneoma Oparaji, MD, a triple board-certified media physician specializing in obesity, lifestyle and internal medicine.

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“The next frontier will be less about living longer, but more about living healthier longer,” Houston-based Oparaji told Fox News Digital.

Kazanjian pointed out that between 2014 and 2026, there has been a fall and a rise in lifespan.

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“The fall was due to young adult deaths from drug overdoses, particularly the opioid epidemic, suicides and alcohol-related deaths,” she told Fox News Digital.

The COVID-19 pandemic reduced U.S. life expectancy by more than two years between 2019 and 2021 before it began recovering, CDC data shows.

Advances in sanitation, clean water, nutrition, vaccination and medical care have contributed to lower mortality rates. (iStock)

Although U.S. life expectancy has rebounded since the pandemic, it remains below that of other high-income countries, largely because of higher death rates from chronic diseases, substance use and other preventable causes, according to KFF.

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Obesity rates also continue to climb, contributing to higher numbers of cardiovascular disease, diabetes and cancer, Kazanjian said.

“Most concerning is the rise in obesity in children,” she added.

“The next frontier will be less about living longer, but more about living healthier longer.”

Changing cancer trends are also affecting lifespan among younger adults, data shows.

“My generation, the millennials, has seen an unprecedented rise in young adult cancers, particularly colon and breast,” Kazanjian said, citing factors that include sedentary lifestyles, poor diet, alcohol, obesity and smoking, among others.

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The doctor said she aims to raise public health awareness of ways to improve lifespan.

“We need to get off our screens, move around more, eat a whole food, plant-based diet, sleep seven hours a night, do our screening exams, and avoid toxins like alcohol and cigarettes.”

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