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.”

Air pollution contributes to several common ailments, such as asthma and allergies. There are many less obvious health issues caused by breathing polluted air, including an increase in blood pressure and long-term cardiovascular damage. High air quality indexes and the corresponding effect on blood pressure should be a point of study, especially in cities where poor air quality is a problem that seems to come and go.

AQI & High Blood Pressure

When we breathe in polluted air, it’s not only about the particulate matter; there is also a variety of gases that come along with it. Especially in the case of fine particulate matter, like PM2.5, it’s possible to inhale particulate matter directly into the lungs and from there, into the blood stream. Pollution that enters the bloodstream has the potential to induce inflammation and oxidative stress in the body. The combination of stress and pollution to the body can have a negative impact on blood vessels, potentially even decreasing the flexibility and elasticity of blood vessels, which in turn leads to the heart working overtime, and eventually, increasing blood pressure.

Also read: With Delhi AQI Nearing 400, Pollution & Flu Loom Ahead Of Diwali: What Happens When Both Hit Your Lungs?

Another significant issue is how air pollution interacts with the stress response system. The sympathetic nervous system controls the fight or flight response, and it may cause blood pressure and heart rate to go up temporarily. This can be very harmful to individuals with preexisting conditions like diabetes, hypertension or other heart issues, especially when coupled with recurrent exposure.

The insidious nature of pollution is the biggest concern here. An individual may experience no signs of respiratory health problems but will nonetheless have been exposed to substances that have negatively impacted their overall health. So, bad air quality should not be thought of as a purely respiratory issue.

How To Stay Safe?

Being informed about local air quality forecasts is something people should do more often, especially if there is an increasing trend in AQI levels. Another step people can take to limit exposure is limiting exercise outdoors close to areas with a high amount of traffic, especially if there is a lot of traffic at that time. Other preventive actions can be taking the time to fit N95 masks when it's absolutely necessary to be exposed to air outdoors and keeping all of the windows and doors in their homes closed when air pollution levels become very high and keeping an indoor air purifier turned on.

Individuals should still focus on monitoring their blood pressure and following through with their doctor's orders. If you are mindful of what impacts our health, you may realize how closely linked heart and lung health are.

NBC News producer Susan Kroll, 58, initially attributed her occasional difficulty remembering words to menopause-related brain fog. However, tests revealed an elevated genetic risk of Alzheimer’s disease and abnormal amyloid levels in her brain.

Her journey began when she sought a diagnosis for her mother, who had started experiencing memory problems at 75. While helping her mother, Kroll decided to investigate her own risk after learning that Alzheimer’s risk can be genetic, she wrote on Today.com.

Genetic Testing Revealed An Elevated Alzheimer’s Risk

Testing showed that Kroll’s mother carried two copies of a gene called APOE4. Everyone inherits one APOE gene from each parent. The three common variants are APOE2, which may reduce Alzheimer’s risk; APOE3, the most common variant, which has a neutral effect; and APOE4, which increases the risk.

According to the Mayo Clinic, people with two copies of APOE4 are eight to 12 times more likely to develop Alzheimer’s.

To understand her own risk, Kroll took a cheek-swab genetic test in October 2024.

"I had an APOE4 and APOE3 gene, making me two to three times more likely to develop Alzheimer’s. I was a bit relieved," Kroll wrote.

Also read: Normal Ageing or Alzheimer's? Doctors Explain Six Key Differences to Watch For

Blood Tests And Brain Scans Revealed More

In May 2025, Kroll took a blood test developed to help diagnose Alzheimer’s disease, which had recently been cleared by the US Food and Drug Administration (FDA).

The test measures certain proteins, including a specific form of tau, that can indicate the presence of amyloid plaques in the brain. These protein deposits are considered a hallmark of Alzheimer’s disease.

Kroll said her "results were well outside the normal range". She had also noticed occasional difficulty remembering words, which she had initially attributed to menopause-related brain fog.

She was given personalised recommendations covering diet, exercise, supplements and sleep.

Diet, Exercise And Sleep Changes To Support Brain Health

Kroll made several changes to her daily routine.

"I cut out artificial sweeteners and limited fried and processed foods, red meat, cheese, sweets and alcohol. Every day, I started eating leafy greens, whole grains, veggies and fruit, and every week multiple servings of fish, walnuts, almonds, avocado and berries."

She also intensified her workouts, doing 45–60 minutes of cardio three to four days a week, alongside strength training. She focused on three muscle groups, completing three sets of each exercise with eight to 10 repetitions. She also started going to bed earlier.

Read More: India Gets Its First Alzheimer’s Drug: Know All About Eli Lilly’s Lormalzi

Kisunla Infusions Reduced Amyloid Levels In Her Brain

In December 2025, Kroll began treatment with Kisunla, an anti-amyloid infusion approved by the FDA in 2024.

A previous brain scan had shown elevated amyloid levels in every quadrant of her brain. Clinical trials have shown that Kisunla can slow cognitive and functional decline in eligible patients.

After six infusions, Kroll underwent another brain scan in May 2026 to assess her progress.

Her amyloid score dropped from 86 to four. The radiologist noted, "The amyloid issue has resolved."

Further blood tests showed that her tau levels were normal. Kroll suggested that her dietary changes may have contributed to this result.

Does She Still Have An Elevated Alzheimer’s Risk?

Kroll currently has neither Alzheimer’s disease nor mild cognitive impairment. However, she continues to have positive biomarkers and an elevated genetic risk. She believes the "early interventions helped slow down or potentially stop the progression of changes years before they could worsen".

Her journey is far from over. She continues to receive care at the Alzheimer’s Prevention Clinic, where her blood and biomarkers are monitored monthly.

Obesity drugs such as semaglutide and tirzepatide may offer benefits beyond weight loss and blood sugar control. Researchers say these medicines could also help protect brain function, including memory and other cognitive abilities.

Researchers from the University of Gothenburg and the University of Copenhagen examined evidence on how these drugs affect the brain and their potential to inform treatments aimed at preserving cognitive function. The review was published in the journal Science.

How Do Obesity Drugs Affect The Brain?

Semaglutide and tirzepatide belong to a class of medicines that act on metabolic pathways involved in appetite and blood sugar regulation. They may also influence biological processes important for brain function.

Animal studies suggest that GLP-1 drugs can affect learning and memory. However, findings from human studies have been mixed.

Studies analysing patient records have linked GLP-1 treatment to a lower risk of dementia among people with type 2 diabetes. However, these findings do not establish whether the medicines themselves are responsible for the reduced risk.

Semaglutide Failed To Slow Alzheimer's Progression

The potential benefits of these drugs have also been examined in people with Alzheimer's disease.

In Novo Nordisk's EVOKE and EVOKE+ clinical trials, semaglutide did not slow disease progression in patients with early Alzheimer's disease, despite producing changes in several biological markers associated with the condition.

However, researchers say these findings do not rule out potential benefits in other groups of patients.

People with obesity or type 2 diabetes may experience difficulties with attention, planning and processing speed. These cognitive problems are often associated with metabolic and vascular health, making them potential targets for treatment.

Stina Börchers, first author of the review and a researcher affiliated with the University of Gothenburg and the University of Copenhagen, said it is important to establish whether these treatments can help preserve cognitive abilities, particularly when started before problems become established.

“We need to find out whether these treatments can help people with obesity or diabetes preserve their cognitive abilities, particularly if treatment begins before cognitive problems become established,” Börchers said.

Could Obesity Drugs Lead To New Brain Treatments?

Researchers are trying to understand whether the potential effects of obesity medicines on the brain result from improved metabolism, direct action on the brain, or a combination of both.

Christoffer Clemmensen, senior author of the review and research group leader at the University of Copenhagen, said advances in obesity medicines offer new opportunities to understand how metabolic regulation influences brain function.

“By disentangling the direct and indirect effects of these drugs on the brain, we may ultimately be able to develop treatments specifically aimed at preserving cognitive function,” Clemmensen said.

Why More Clinical Trials Are Needed

The researchers are calling for clinical trials that assess memory and other cognitive abilities from the beginning of treatment.

They also stress the need to monitor older and frail patients. Rapid weight loss and loss of muscle mass could affect physical function and potentially reduce the benefits of treatment in these groups.

For now, whether obesity drugs can help preserve cognitive function remains an important research question. More clinical evidence is needed before they can be considered treatments for protecting brain health.