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.”

Why looking beyond the obvious can save lives.

A 50-year-old woman recently came to my clinic seeking a second opinion.

For weeks, she had been treated for asthma. She was using inhalers regularly, yet her cough persisted, and her breathlessness continued to worsen, even while resting. Something about her story didn't add up.

A simple chest X-ray revealed the real problem: a massive pleural effusion, a large collection of fluid surrounding the lung and preventing it from expanding normally. Further evaluation confirmed the underlying cause, lung cancer that had spread to the pleura, the thin membrane lining the lungs.

Her symptoms were genuine. The diagnosis, however, was not asthma.

When Common Symptoms Hide Serious Disease

Cough and breathlessness are among the most frequent reasons people visit a doctor. In most cases, the cause is something common, such as asthma, allergies, or a respiratory infection.

But common symptoms do not always point to common diseases. The key is recognizing when the clinical picture no longer fits.

If symptoms:

• Persist despite appropriate treatment
• Continue to worsen or behave unexpectedly
• Are accompanied by warning signs such as unexplained weight loss, persistent chest pain, fever, or coughing up blood

Then it is time to pause, reassess, and investigate further rather than simply changing medications.

In this patient's case, inhalers could never have relieved the pressure caused by fluid around the lung. Nor could they have treated an underlying tumor. The delay didn't change the diagnosis, but it delayed the answers, appropriate treatment, and the opportunity to plan the next steps.

Lung Cancer Is No Longer Following the Old Rulebook

For decades, lung cancer was largely associated with older men who smoked heavily. That picture has changed.

In our practice, we diagnose approximately two to three new cases of primary lung cancer every three months, and nearly 40% of these patients are women or individuals who have never smoked.

Increasingly, we are seeing:

• Younger patients with no history of smoking
• Women diagnosed with adenocarcinoma; a subtype often seen in non-smokers
• The growing influence of air pollution, occupational exposures, genetics, radon, and biomass fuel exposure

If we continue to associate lung cancer only with smoking, we risk missing a significant proportion of patients who need timely diagnosis.

Three Important Lessons

1. Treat the Patient, Not Just the Diagnosis

Asthma should not become a permanent label simply because someone has a cough or wheeze.

When symptoms fail to improve within a few weeks of appropriate treatment, it is important to step back, reconsider the diagnosis, and investigate further.

2. Never Underestimate Simple Investigations

A chest X-ray remains one of the most valuable first-line investigations.

In just a few minutes, it can identify pneumonia, tuberculosis, heart failure, pleural effusion, lung masses, and many other conditions that require an entirely different treatment approach.

Even in an era of advanced imaging and artificial intelligence, the fundamentals of clinical medicine remain indispensable.

3. Earlier Diagnosis Creates Better Opportunities

When detected early, lung cancer is often more treatable and offers significantly better outcomes.

Even in advanced disease, timely diagnosis can make an enormous difference. Procedures such as draining pleural fluid, initiating targeted therapy, immunotherapy, or palliative treatment can greatly improve both symptoms and quality of life.

When Should a Persistent Cough Raise Concern?

Seek medical evaluation if you experience:

• A cough lasting longer than three weeks
• Breathlessness that is new, worsening, or occurring at rest
• Chest pain, unexplained weight loss, persistent fatigue, or coughing up blood
• Symptoms that do not improve despite inhalers or antibiotics
• Significant exposure to smoking, second-hand smoke, air pollution, biomass fuel, workplace chemicals, or a family history of lung cancer
• Persistent symptoms deserve proper evaluation, not repeated assumptions.

I often remind my patients that the body rarely sends repeated signals without a reason.

A persistent cough or unexplained breathlessness should never be dismissed simply because it resembles asthma. While asthma is common, it is only one of many possible causes.

Artificial intelligence can generate a list of potential diagnoses within seconds. But medicine is about more than identifying possibilities. It requires listening carefully, examining thoughtfully, choosing the right investigations, and connecting the clinical clues.

The woman who came to me was looking for reassurance.

Instead, she received something far more important: a correct diagnosis, a clear treatment plan, and the opportunity to move forward with certainty.

Because every cough is not asthma. And every breath deserves an explanation.

(By Dr. Sachin Kumar, Director – Pulmonology & Critical Care Medicine, Sakra World Hospital, Bengaluru)

Tadalafil, a widely used drug for erectile dysfunction and enlarged prostate symptoms, may increase the risk of glaucoma, the leading cause of blindness, in men with lower urinary tract symptoms (LUTS), according to a new study.

Although the study identified a significant association, the researchers emphasized that it was observational and does not prove that tadalafil directly causes glaucoma.

However, they suggested that men taking tadalafil long-term for LUTS may benefit from regular eye examinations, particularly those with existing glaucoma risk factors such as a family history of the disease or ocular hypertension.

What the Study Found

Researchers from the National Taiwan University Hospital in Taipei, Taiwan, found that men taking tadalafil for LUTS were:

• 22% more likely to develop glaucoma.
• 33% more likely to develop primary open-angle glaucoma, the most common form of the disease.
• 32% more likely to develop ocular hypertension (high pressure inside the eye).
• 33% more likely to begin glaucoma treatment.

The findings were published in the British Journal of Ophthalmology.

Also read: Israeli Scientists Find Surprising New Benefit of Viagra: It May Help Stop Cancer Spread

How the Study Was Conducted

The researchers analyzed health data from 73,854 men aged 40 years and older with a history of lower urinary tract symptoms.

Half of the participants had been prescribed tadalafil or another phosphodiesterase type 5 inhibitor (PDE5i) for up to five years, while the remaining participants received other treatments.

The increased glaucoma risk remained consistent, particularly among men aged over 50 years.

Tadalafil: How It Works?

Tadalafil works by relaxing smooth muscles and improving blood flow. Besides treating erectile dysfunction, it is also prescribed to relieve urinary symptoms caused by an enlarged prostate, such as frequent urination and urgency.

Previous studies have linked PDE5 inhibitors to several eye-related side effects, and the new findings add to concerns about their long-term effects on eye health.

"Tadalafil use for lower urinary tract symptoms was associated with a significant increase in the risk of glaucoma, ocular hypertension, primary open-angle glaucoma and initiation of glaucoma treatment in a large, multinational, real-world cohort," the researchers concluded.

Read More: GLP-1 Drugs Like Mounjaro, Ozempic Linked To 82 Deaths In UK, 162 In US

What Is Lower Urinary Tract Symptoms

Lower urinary tract symptoms (LUTS) are common urinary problems that affect the storage or passage of urine. They are particularly common in elderly men and are often linked to conditions such as an enlarged prostate, an overactive bladder or problems affecting the body's fluid balance.

Common symptoms include:

• A weak or slow urine stream
• Difficulty starting urination
• A sudden, urgent need to urinate
• Frequent urination, especially at night
• Feeling that the bladder has not emptied completel

What is Glaucoma?

Glaucoma is a group of eye diseases that can damage the optic nerve, potentially leading to irreversible vision loss and even blindness if left untreated.

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

A major challenge with glaucoma is its lack of symptoms in the initial stages. As a result, the condition is often diagnosed at an advanced stage, where treatment yields the least results. More than 75 percent of glaucoma cases globally remain undiagnosed.

When to see a doctor for glaucoma:

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

For years, diet sodas have enjoyed a pretty good reputation. They offered the sweetness without the sugar, the fizz without the guilt, and for many people, they became an easy replacement for regular soft drinks. It is not hard to see why. Whether it is an afternoon craving, something to sip with lunch, or a way to satisfy a craving without reaching for sugar, diet drinks have quietly become part of many people's daily routine. However, a major new study is making people look at those drinks a little differently. Researchers have found that people who regularly consumed higher amounts of artificial sweeteners showed faster declines in memory and thinking skills over time. It does not mean your occasional Diet Coke is suddenly a problem. But if you cannot remember the last day you went without one, the findings are definitely worth knowing.

What Researchers Found

The study followed 12,772 adults in Brazil over eight years, with the average age of participants being 52. It is the largest and longest study so far looking at how artificial sweeteners may be linked to brain health. Researchers examined seven commonly used low- and no-calorie sweeteners found in ultra-processed products like sodas, flavoured water, sugar-free yoghurt and low-calorie desserts. These included:

• Aspartame
• Saccharin
• Acesulfame-K
• Erythritol
• Xylitol
• Sorbitol
• Tagatose

Throughout the study, participants completed tests that measured memory, verbal fluency, and processing speed. After taking other health factors into account, researchers noticed a clear pattern. People who consumed the highest amounts of artificial sweeteners experienced cognitive decline 62% faster than those who consumed the least. According to the researchers, that difference was roughly equal to 1.6 years of additional brain ageing.

Even people in the middle consumption group showed a 35% faster decline, equivalent to about 1.3 years of brain ageing. Out of the seven sweeteners studied, six showed an association with faster cognitive decline. The only one that did not was the Tagatose.

The Results Were Strongest In Younger Adults

One finding stood out more than the rest. Most people tend to think of memory problems as something that only becomes a concern later in life. This study suggested that may not be the full picture. The link between artificial sweeteners and cognitive decline was strongest in adults under the age of 60. Researchers believe this could mean that the habits people build during midlife play a much bigger role in long-term brain health. The association was also stronger among people with diabetes, who are often more likely to choose artificially sweetened foods and drinks instead of sugary ones. Among all the areas tested, memory appeared to take the biggest hit.

Before You Throw Away Your Diet Coke, Read This

This is where the conversation becomes important.

“Our findings do not suggest that drinking an occasional diet soda is harmful,” Claudia Kimie Suemoto of the University of São Paulo said. “Rather, they raise questions about the potential consequences of frequent, long-term consumption of artificial sweeteners.”

The study was observational, which means it identified the link, but it cannot say for sure that the sweeteners themselves caused the decline. That is a big difference. Lead researcher Claudia Kimie Suemoto from the University of São Paulo said: “Based on our study alone, I would not tell someone to stop drinking diet soda because of concerns about cognitive impairment”.

The findings also support earlier research. A 2017 study from the Framingham Heart Study reported a similar association between artificially sweetened beverages and a higher risk of stroke and dementia. Scientists say the evidence is growing, but there is still more to understand before firm conclusions can be made.

Read Also: UK Woman Dies After Sudden Abdominal Pain Following Increase In Her Mounjaro Dose

So What Should You Do?

The answer is probably not to swear off diet soda forever. Instead, experts suggest taking a closer look at how often you are reaching for it. If one can has quietly turned into several every day, it may be worth cutting back little by little. Whenever you want a Diet Coke, go for plain water, sparkling water, unsweetened tea, or black coffee. This can help reduce your overall intake without making the change feel overwhelming. The goal is not perfection; it is balance.

There is no reason to panic over a single can. But if sugar-free drinks have become something you rely on every day without really thinking about it, this study is a good reminder that even habits that seem harmless deserve an occasional second look. Sometimes the healthiest changes start with asking a simple question: "Do I really need another one?"