For over 15 years, Dr Anthony Shum, a pulmonologist at the University of California, San Francisco has been studying a rare genetic disorder called the COPA Syndrome. It stands for coatomer subunit alpha and is a rare, inherited disorder that affects the lungs, joint, and kidney. The National Organization for Rare Disorder also notes that it is a genetic autoimmune disorder that is caused by mutations in the COPA gene. This disease affects families unpredictably—some individuals with the mutation develop severe lung damage early in life, while others remain completely healthy. Now, Shum’s team has discovered a protective genetic variant that may offer new hope for treatment.

A Breakthrough

Researchers found that some relatives of COPA Syndrome patients stayed healthy despite carrying the same COPA gene mutation that causes the disease. The key difference? These unaffected individuals had a protective version of another gene called HAQ-STING.

When scientists introduced HAQ-STING into diseased lung cells from COPA patients, the cells returned to a balanced state, suggesting that this gene could be used as a therapy.

“We really think HAQ-STING could be a gene therapy tool and a step toward a cure,” said Shum, whose findings were published in the Journal of Experimental Medicine.

Families Who Solved The Mystery

Shum’s journey into COPA Syndrome research began in 2011 when he treated a young woman, Letasha, who had severe lung bleeding. Her mother, Betty Towe, mentioned that Letasha’s sister, Kristina, had suffered from similar symptoms. Over the years, Betty had taken both daughters on a four-hour trip to UCSF for treatment. After tracing their family history, Shum discovered that their distant relatives in Texas and Oakland also had lung problems and arthritis. In 2015, Shum, along with scientists from Baylor College of Medicine and Texas Children’s Hospital identified the COPA gene mutation. They realized that it was the common factor behind the illness. However, only some of the 30 individuals with the mutation actually developed symptoms, leaving a major question unanswered.

The Domino Effect

It was established that it occurs when a mutated COPA gene causes another gene STING to go overdrive. The STING that helps fight infections in COPA patients, remain permanently active, which leads to chronic inflammation that damages the lungs, kidneys, and joints. In 2020, while studying STING’s role in the disease, researchers discovered a key variation: HAQ-STING. This version of STING, present in about one-third of the population, appeared to neutralize the harmful effects of the COPA mutation.

To confirm their theory, the scientists needed both affected and unaffected family members to participate in the testing. Letasha, Kristina and Betty immediately volunteered. The researchers then analyzed DNA samples from 26 COPA patients and their healthy relatives. They also conducted CT scans and blood tests to ensure that unaffected members did not have any hidden symptoms. When the findings were all clear, it was revealed that all the healthy individuals had HAQ-STING, while none of the COPA patients did. This was the first known case of a common gene variant completely protecting against a severe genetic disease.

Encouraged by this discovery, researchers tested HAQ-STING’s effects in a lab setting. They introduced it into diseased lung cells from COPA patients, and the cells returned to normal function.

Way Ahead

Shum believes HAQ-STING could lead to game-changing treatments, including:

• Prenatal gene therapy for babies diagnosed with COPA Syndrome before birth
• Aerosol delivery of HAQ-STING for adults, directly targeting the lungs

Before publishing their findings, Shum called Betty with the news—her own HAQ-STING gene had protected her from the disease. He also informed Letasha and Kristina, who were overwhelmed with relief and joy.

“We always believed Dr. Shum would get to the bottom of it,” said Letasha. “This discovery is going to change lives.”

An international team of researchers has developed an artificial intelligence (AI)-based tool that can significantly improve care for glaucoma -- a leading cause of irreversible blindness worldwide, according to a study published in The Lancet Primary Care journal today.

Researchers led by those from the University of Lisbon in Portugal found that the AI-based screening tool halved the number of unnecessary referrals for glaucoma.

The study, released during the Glaucoma Awareness Week, also showed an accuracy level at par with human eye doctors.

"The high accuracy at excluding people without glaucoma is especially important, as false alarms can lead to unnecessary hospital visits, patient anxiety, and added strain on healthcare services," the researchers said.

According to the researchers, AI-based screening could:

• support earlier detection,
• reduce unnecessary specialist referrals,
• prevent avoidable vision loss,
• can be integrated into routine primary care in a cost-effective way

Key Findings

The study was carried out at a single screening center in Lisbon, Portugal, in 2023.

The experts screened 671 adults aged 55-65 for glaucoma via the AI tool, analyzing images of the eyes. The images were then independently graded by six glaucoma experts.

The AI-tool:

• referred 66 people (9.8 percent) vs 118 referrals (18.0 percent) by the eye doctors,
• diagnosed glaucoma in 40 participants (6.4 percent).
• It correctly identified 78 percent of people who truly had glaucoma, vs 75 percent identified by the eye doctors
• Correctly ruled out the disease in 95 percent of people, vs 91 percent by eye doctors

While modelling studies suggest that screening could substantially reduce glaucoma-related visual impairment and blindness, barriers include the need for specialised diagnostic equipment and trained personnel, particularly in low- and middle-income countries, and the intrinsically low positive predictive value of screening tests.

In such a scenario, the new study showed that "AI may provide a more viable option than population-wide screening", which may seem impractical.

What Is Glaucoma?

Glaucoma is a chronic disease that affects an estimated 80 million individuals globally, according to the World Glaucoma Association.

It is a progressive, degenerative disorder of the optic nerve that produces characteristic visual field damage.

The disease stems from a long asymptomatic phase, resulting in substantial underdiagnosis and delayed treatment.

Even in high-income countries, up to 50 percent of individuals with glaucoma remain undiagnosed, frequently presenting moderate to advanced disease at first detection.

By the year 2040, it is estimated that there will be 22 million individuals worldwide who are blind from glaucoma.

When to see a doctor for glaucoma:

• Vision suddenly gets blurry
• Severe eye pain
• Headache
• Nausea
• Vomiting
• Rainbow-colored rings or halos around lights

In adults, long periods of sleep deprivation has been linked to problems such as weakened immunity, weight gain, depression, and an increased risk of dementia. However, scientists are now paying closer attention to how sleep affects the brain much earlier in life.

However, a new University of North Carolina School of Medicine study suggests that disrupted sleep during early childhood may interfere with key stages of brain development and asl well as increase the risk of developing autism.

Why Sleep Matters For The Developing Brain

Sleep plays a crucial role in helping these synapses form and strengthen. During sleep, the brain organizes and stabilizes these neural connections, shaping the foundation for future brain function. If sleep is repeatedly disrupted during this delicate stage of development, the process may be affected.

Frequent waking or sleep disturbances could interfere with how these neural connections are formed, potentially influencing behavior and cognitive abilities later in life.

The Link Between Sleep And Autism

“The unique effects of sleep loss during development are largely unexplored,” Diering said. “Our data show that babies and children are more vulnerable to the negative effects of sleep disruption. We also found that sleep loss during this crucial period of time can negatively interact with underlying genetic risk for autism spectrum disorder.”

Sleep problems are already known to be common in people with autism. In fact, sleep disruption has been reported in more than 80 percent of individuals with autism spectrum disorder. However, researchers have long debated whether these sleep issues are a cause of the disorder or a consequence of it. Understanding how sleep interacts with brain development could help scientists detect autism earlier and potentially develop new treatment strategies.

Studying Sleep Disruption In Early Life

In earlier work conducted in 2022, researchers examined how sleep disruption during early life might interact with genetic factors linked to autism. Using mouse models, they disrupted sleep during the third week of life, a developmental stage roughly comparable to ages one to two in humans.

The study found that sleep disruption during this period produced long lasting behavioral changes. Male mice that were genetically vulnerable to autism showed deficits in social behavior later in life. These results suggested that sleep disruption during critical stages of development may interact with genetic risk factors in ways that shape long term behavior.

Younger Brains Respond Differently To Sleep Loss

To investigate further, researchers studied how developing and adult mice respond differently to sleep deprivation.

Using specially designed housing systems equipped with sensitive sensors, scientists tracked the animals’ breathing and movement. This allowed them to determine when the mice were awake and when they were asleep.

The researchers observed that adult mice were able to compensate for lost sleep. After experiencing sleep deprivation, the adults increased their sleep later during their normal active period. This process, known as sleep rebound, allowed them to recover some of the lost rest.

Younger mice behaved very differently. They showed no sleep rebound at all, meaning they did not compensate for the sleep they had lost. This finding suggests that younger brains may be far more vulnerable to the effects of sleep disruption.

The consequences were also visible in cognitive performance. Sleep deprived young mice performed poorly on learning and memory tasks, while adult mice were significantly more resilient after losing sleep.

Changes At The Level Of Brain Synapses

The results showed that sleep deprivation in young mice significantly altered the formation of synapses. These changes were not seen in adult mice. “This now provides one of the largest and most comprehensive datasets to examine the molecular effects of sleep loss across the lifespan,” Diering said.

Potential Future Treatments

“Development is not something that one can go back and do again,” Diering said. “Sleep is important for the entire life and especially during development. Understanding what we know now will place greater emphasis on understanding sleep issues in ASD and could lead to an important therapeutic avenue to treat ASD and other developmental conditions.”

The findings highlight an important message for parents and caregivers. During early childhood, healthy sleep patterns may play a critical role in shaping the brain for years to come.

Using amphetamines, cocaine and cannabis can significantly increase your risk of having a brain stroke particularly among younger adults, according to a new University of Cambridge analysis

The findings highlight how recreational drug use may contribute to a preventable health risk, especially among people under the age of 55.

Megan Ritson, a stroke genetics researcher at the University of Cambridge and lead author said the results provide strong evidence linking certain drugs to stroke risk.

“These findings provide compelling evidence that drugs like cocaine, amphetamines, and cannabis are causal risk factors for stroke,” Ritson noted.

A stroke occurs when blood flow to part of the brain is interrupted. This can happen when a blood vessel becomes blocked by a clot, known as an ischemic stroke, or when a blood vessel bursts and causes bleeding in the brain, known as a hemorrhagic stroke. Both types can lead to serious brain damage and can be life threatening.

Amphetamines Associated With The Highest Risk

When researchers combined data from eight previous studies, they found that recreational amphetamine use was associated with more than double the risk of stroke across all adult age groups. For individuals under the age of 55, the increase was even greater. In this group, amphetamine use was linked to nearly triple the risk of stroke compared with people who do not use the drug.

Across all age groups, the analysis found that amphetamine use increased the risk of ischemic stroke by 137 percent and hemorrhagic stroke by 183 percent. These figures reflect relative risk, meaning the probability of stroke is higher among users compared with non users.

Cocaine Shows A Similar Pattern

The analysis showed that cocaine use nearly doubled the risk of stroke of any kind and more than doubled the risk of hemorrhagic stroke. Additional genetic investigations were conducted alongside the main analysis to better understand whether the relationship might be causal rather than simply linked to other lifestyle factors.

Eric Harshfield, a genetic epidemiologist at the University of Cambridge, said the findings suggest the drugs themselves may play a direct role. “Our analysis suggests that it is these drugs themselves that increase the risk of stroke, not just other lifestyle factors among users,” Harshfield said.

Cannabis Linked To Smaller But Significant Risk

Among people under the age of 55, cannabis use was linked to a 14 percent increase in stroke risk. Although the increase is lower than that associated with stimulant drugs, researchers say it remains important because cannabis is widely used.

Opioids Showed No Clear Association

A Preventable Health Risk

The researchers also note that many of the studies included in the analysis relied on participants reporting their own drug use. Because of this, other lifestyle factors could potentially influence the results. Further research will be needed to better understand the biological mechanisms involved and how different patterns of drug use may affect stroke risk. Still, scientists say the evidence now available provides an important foundation for future public health strategies.

“These findings give us stronger evidence to guide future research and public health strategies,” Ritson said.