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.”

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?"

When patients first hear the term "bone marrow transplant," they often picture a complex surgery involving the bones or spine. This is perhaps the most persistent misconception surrounding one of modern medicine's most remarkable achievements.

Unlike other organ transplants (kidney/ heart/ liver, etc), a bone marrow transplant is not a surgery at all! It is administered much like a blood transfusion, through a simple intravenous line. Yet this deceptively simple procedure can rebuild an entire blood-forming and immune system from scratch, offering a genuine cure for blood cancers and other serious blood disorders.

Bone marrow is the body's blood factory, producing the red cells that carry oxygen, the white cells that fight infection, and the platelets that prevent bleeding. At its heart lie blood-forming stem cells or the "parent cells" capable of generating every blood cell the body will ever need.

In leukemia and related cancers, these stem cells turn rogue, crowding out healthy ones. In several inherited disorders, the marrow simply fails to manufacture healthy cells at all. A transplant addresses the problem at its root, replacing defective stem cells with healthy ones.

I often explain this to patients using the language of farming. Before sowing fresh seed, a farmer clears the field of weeds. Similarly, before healthy stem cells can be transplanted, doctors must prepare the marrow through chemotherapy and, in select cases, radiation, a stage called conditioning. Once this was punishingly intensive, limiting transplants to the young and fit. Today, reduced-intensity regimens, which are carefully tailored to suit even the old or frail patients, have extended this option to older adults and those with other health conditions.

The transplant itself is almost anticlimactic in its simplicity: stem cells are infused through an IV, with no incision or operating theatre required. These cells possess a natural ability doctors call "homing": they find their own way into the bone marrow and settle there. Over two to four weeks, they begin producing healthy blood, a process called engraftment.

For decades, the greatest obstacle to transplantation was finding a matched donor. Traditionally, only a fully matched sibling would do, leaving many patients, particularly in a genetically diverse country like India, without options. That has changed decisively. Half-matched family transplants and unrelated donors identified through registries now succeed at rates that rival matched-sibling transplants. Nearly every patient today has a realistic path to a suitable donor.

Technology is reshaping this field further. Gene therapy is opening a new chapter for disorders such as sickle cell disease and thalassemia, correcting a patient's own stem cells in the laboratory rather than relying on a donor, though such therapies remain costly and available only in select countries for now.

Recovery, however, is a marathon, not a sprint. It can take months as the immune system rebuilds, requiring vigilant monitoring for infection and for graft-versus-host disease, in which transplanted immune cells attack the patient's own tissues. Advances in immunosuppressive and targeted therapies have greatly improved our ability to manage this complication, allowing most survivors to gradually return to work, education and family life.

A blood cancer diagnosis remains frightening, but treatment has advanced tremendously in two decades. Bone marrow transplantation is no longer experimental or exceptionally hazardous: it is established, evidence-based, and growing safer and more accessible across India.

Its truest achievement is not simply extending life, but restoring it: another birthday, another child watched growing up, another future reclaimed. For these patients, a transplant is quite literally a chance to begin again.

(Dr. Narendra Agrawal, Hematologist and Bone Marrow Transplant Physician and Senior Consultant and Unit Head of Haemato-Oncology at Rajiv Gandhi Cancer Institute & Research Centre.)