Health
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.
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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)
“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.
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.
Bipartisan push to invest in US national parks
Bret Baier moderates a discussion with Representatives Bruce Westerman (R-AR) and Jared Huffman (D-CA) about the ‘America the Beautiful’ initiative. This bipartisan effort seeks to modernize national parks ahead of America’s 250th anniversary, investing $1.9 billion annually. They emphasize national parks as common ground, beloved by all Americans, and crucial for our shared heritage.
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As the United States celebrates its 250th anniversary, many Americans are taking extra notice of all the things the country has to offer.
One such case is our access to vast wilderness. Today, the nation’s national parks are bustling tourist attractions, but they may also serve as vital resources for public health, experts say.
The most immediate health boost comes from physical movement.
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Guidelines from the Centers for Disease Control and Prevention show that regular physical activity is crucial for reducing obesity, improving sleep quality and lowering the risk of chronic illnesses.
The nation’s public lands include parks, trails and open spaces that encourage outdoor recreation and physical activity.
Beyond physical fitness, national parks contribute to documented mental health benefits. (iStock)
A review by the Community Preventive Services Task Force (CPSTF) found that implementing park, trail and greenway infrastructure directly increases physical activity across communities.
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When people walk, hike or bike through national parks, they are actively lowering their blood pressure, boosting immune function and reducing overall mortality, data shows.
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Beyond physical fitness, national parks may contribute to documented mental health benefits.
Previous research has demonstrated that direct exposure to nature significantly reduces physiological stress, lowers heart rates and decreases levels of stress hormones, like cortisol.
Engaging in educational activities and lifelong learning preserves brain function, improves memory and helps stave off age-related cognitive decline, research shows. (iStock)
This research also shows that natural environments boost attention span, combat mental fatigue and improve cognitive performance.
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Parks also act as natural venues for mindfulness and social connection.
Research shows that practicing mindfulness in quiet outdoor spaces lowers stress and mitigates feelings of loneliness and social isolation.
Research highlights that practicing mindfulness in quiet outdoor spaces lowers stress and mitigates feelings of loneliness and social isolation. (iStock)
Additionally, because parks protect cultural and historical resources, they can inspire lifelong learning.
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According to the data, engaging in educational activities and lifelong learning preserves brain function, improves memory and helps stave off age-related cognitive decline.
The National Park Service was established in 1916 to conserve the nation’s natural and historic resources for future generations, according to the organization.
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Today, that mission has expanded, as parks are recognized not only for their scenic and cultural value, but also the opportunities they provide for recreation and physical activity.
Screwworm outbreak threat to US livestock, prompts USDA action
Agriculture Secretary Brooke Rollins discusses USDA’s response to the New World Screwworm outbreak in Texas and New Mexico, assuring safe food supply on ‘The Bottom Line.’ VI LONG DEK: Agriculture Secretary Brooke Rollins addresses the alarming resurgence of New World Screwworm in Texas and New Mexico, emphasizing USDA’s aggressive containment efforts. She confirms the food supply remains safe while highlighting the administration’s focus on domestic fertilizer production, investing billions in new plants and infrastructure projects. Rollins celebrates 250 years of American agriculture and its vital role in national security.
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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.
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.
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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)
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.
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.
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.
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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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.
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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.
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)
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.
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.”
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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