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.”

Low-dose aspirin could play a key role in lowering the risk of dementia significantly in some older adults, according to a new genetic analysis. However, the benefit does not come without a complication: major bleeding.

The study, led by researchers at Monash University in Australia, is based on data from more than 13,500 participants in the ASPREE trial, which investigated the effects of low-dose aspirin in older adults. The study was published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association.

Researchers found that the benefit was mostly seen among people with a specific genetic trait linked with platelet count.

70% Lower Dementia Risk Was Seen Among Older Adults

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Platelets are small blood components that help form clots and stop bleeding. Researchers have previously examined how aggregation of platelets might contribute to dementia, but the role of genetically influenced platelet counts still remains unclear.

The researchers examined genetic scores related to platelet count and compared dementia results among participants who were either assigned aspirin or placebo.

Among people in the highest 20% of platelet count genetic scores, dementia developed in 1% of those taking aspirin, compared with 3.3% of those receiving a placebo. This represented approximately a 70% lower risk.

Lead author Dr Peter Fransquet, a research fellow at Monash University's School of Public Health and Preventive Medicine, said, “Previous trials found aspirin didn't prevent dementia when everyone was considered together.”

“Our findings suggest there may be more to the story,” he said.

Risk Of Bleeding Increased

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The benefit was accompanied by a safety concern. Among participants in the same genetic subgroup, major bleeding occurred in 4.4% of those assigned to aspirin, compared to 2.1% of those given a placebo. That is a difference of 2.3 percentage points in both dementia cases and major bleeding events. In other words, the lower dementia rate cannot be considered in isolation from the increased bleeding risk.

Aspirin reduces the ability of platelets to form clots. This can be useful for certain people who need to take precaution against cardiovascular events, but it can also increase the risk of serious bleeding, including bleeding in the gastrointestinal tract or brain.

The study therefore does not prove that aspirin offers a favourable overall balance of benefits and harms for people with this genetic profile.

Could This Help Personalise Dementia Prevention?

The researchers found that the genetic signal was not linked to established genetic risk factors for Alzheimer's disease and dementia. Instead, it pointed towards platelet factor as a possible direction for further research.

“What's particularly interesting is that the signal wasn't linked to the established genetic risk factors for Alzheimer's disease and dementia,” Fransquet said. “Instead, it's pointing us towards platelet biology and gives us a new avenue to investigate.”

The findings could contribute to more personalised approaches to dementia prevention, in which treatments are tailored to characteristics that influence how individuals respond. But the results need to be replicated in other populations and tested in a clinical trial specifically designed for people with the identified genetic profile.

Fransquet said, “People shouldn’t start taking aspirin to prevent dementia on the basis of this study without consulting with their doctor, particularly given the increased risk of serious bleeding,” he said.

High blood pressure can be managed with medication and dietary changes. But recent research suggests that certain mental health habits can also help fight hypertension.

Mental health practices like mindfulness, optimism and gratitude may also support cardiovascular health, partly by helping people manage stress better and maintain healthier habits.

Hypertension affects nearly half of adults in the United States. While lifestyle changes like reducing salt intake, exercising regularly, maintaining a healthy weight and limiting alcohol remain crucial, the emerging study says that psychological wellbeing can also have a beneficial effect on blood pressure.

“Stress contributes to hypertension,” said Willie E. Lawrence Jr., a cardiologist and spokesperson for the American Heart Association. “It’s hard to get all the stress out of your life, but there are things that you can do to lower blood pressure, like mindfulness.”

According to the researchers, here are three mental health habits that may help:

Mindfulness

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Mindfulness refers to paying attention to thoughts, emotions and physical sensations in the present moment without judging them. It may help alleviate stress and improve behaviours that affect blood pressure like dietary choices and physical activity.

Eric Loucks, professor of epidemiology and director of the Mindfulness Center at Brown University, developed a mindfulness-based blood pressure reduction programme that teaches participants all about self-awareness, attention control and emotional regulation. The programme teaches people to apply these skills to everyday decisions like choosing healthier foods.

“There can be energy that comes up to act on those insights,” Loucks said. “So if we decide we want to eat more healthily, can we be there with that energy in the grocery store, selecting the food for the week?”

Optimism

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Optimism means expecting positive outcomes while recognising that challenges exist. Research has linked an optimistic outlook with better cardiovascular health, but evidence that it lowers blood pressure in people who already have hypertension is limited.

A study based on more than 100,000 active-duty US Army personnel without hypertension found that the most optimistic participants were less likely to develop high blood pressure during an average follow-up of three and a half years.

Julia Boehm, professor and chair of psychology at Chapman University said that practising optimism does not mean ignoring difficulties. Instead, people can identify realistic, achievable actions that support their health, such as choosing nutritious meals or becoming more physically active.

“This might mean something concrete like, ‘Am I going to choose to eat the salad or the french fries at lunch?’ and thinking optimistically that my choices in any given moment are going to translate into measurable effects in the long run,” Boehm said.

Gratitude

Gratitude involves acknowledging the people, experiences and acts one appreciates. Some research suggests it may affect cardiovascular responses to stress.

One study found that writing a gratitude letter changed how systolic blood pressure responded during a stress test. Systolic pressure, the upper number in a blood pressure reading, measures pressure when the heart contracts.

Mindfulness, optimism and gratitude should complement established hypertension treatment, not replace it. Medication, regular physical activity, a balanced diet and screening remain essential.

As Boehm cautioned, “You can’t ignore the doctor’s advice to either take your medications or engage in physical activity or eat fruits and vegetables. It’s just one piece of a larger strategy to bolster health.”

A small, non-invasive device that stimulates nerves through the ear has shown early promise for people whose blood pressure stays high despite medication, according to a new clinical trial led by researchers at Queen Mary University of London.

What the device does

The device uses a technique called transcutaneous autonomic neuromodulation, or tAN, which aims to influence the autonomic nervous system, the network of nerves that automatically controls functions like heart rate, digestion, and blood pressure, according to Queen Mary University of London. Developed by Afferent Medical Solutions, the handheld device uses two small clips placed on the tragus, the flap of cartilage just in front of the ear canal, to deliver mild electrical pulses. Patients can use it themselves at home without visiting a clinic.

How the trial worked

The trial, called SCRATCH-HTN and funded by the National Institute for Health and Care Research, enrolled 63 people with uncontrolled hypertension, all of whom were already taking at least one blood pressure medication but still had readings above recommended levels, per Queen Mary’s release. Participants were randomly split into two groups: one received active nerve stimulation, the other used a sham device as a comparison.

For the first two weeks, participants used their assigned device for 30 minutes daily. For the following ten weeks, that dropped to once a week.

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What the results showed

The treatment was safe and generally well tolerated, and most participants stuck to the prescribed schedule, suggesting it could work for regular home use, according to the findings published in Hypertension, a journal of the American Heart Association. Across the full study group, however, there was no statistically significant difference in blood pressure between the active stimulation group and the sham group.

There was one notable exception. Among participants who entered the trial with more severe hypertension, those receiving active stimulation showed a greater reduction in blood pressure compared to those on the sham device, per a prespecified subgroup analysis in the study.

What the lead researcher said

“This is an exciting, highly patient-acceptable technology that could ultimately provide a cheap, scalable solution for millions,” said Dr. Ajay Gupta, the trial’s chief investigator and a clinical reader at Queen Mary University of London, in the university’s press release. “Although the trial did not achieve significance across the broad unselected group, those with more severe hypertension exhibited a clear blood pressure reduction in the active group compared to sham.”

He added that the study “points towards important new research directions that could help us understand whether non-invasive neuromodulation can benefit particular groups of patients with uncontrolled hypertension.”

Why this matters

High blood pressure is a major driver of cardiovascular disease, raising the risk of heart attacks and strokes over time. While medication helps many patients, a significant number continue to have blood pressure above target even while on treatment, which is part of why researchers are exploring additional, non-drug approaches that could work alongside existing therapies.

What comes next

The researchers are clear that this is an early finding, not proof of an effective treatment. Because the subgroup result came from a relatively small trial, it will need to be confirmed in larger studies before any conclusions can be drawn about how well the device actually works, and for whom.