Credits: Canva
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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
Credit: Liz McCollgan/Instagram
Scottish Olympic legend Liz McColgan has warned athletes to wear sun protection during their training hours to protect their skin from “lasting consequences”.
Liz McColgan shared the health warning to athletes after undergoing surgery to remove lesions on her face.
The Olympic silver medalist from Dundee shared post-surgery photographs on the social media platform Instagram and lamented that, as a young runner, she never focused on wearing sun protection.
Avoiding sun cream because she felt it made her "sweat more" was her “ignorance”, said the 61-year-old former athlete.
“As a young athlete, I trained and raced in all weathers. Sun protection was never something I gave much thought to. In fact, I avoided it. I didn’t like the feeling of creams on my skin - I thought they made me sweat more, so I convinced myself I was better off without them. Looking back, that was ignorance,” Liz McColgan said.
“Recently, I had to undergo surgery to remove two lesions on my face. It was a stark reminder that the choices we make early on - especially the ones we dismiss as unimportant - can have lasting consequences,” she added.
Liz McColgan noted that athletes keep all their focus on "performance - mileage, sessions, recovery, nutrition”, but simple things like protecting their skin are often ignored.
“Yet it’s just as much a part of our overall health and wellbeing as any training session,” she said.
Sharing the health message to both young and old athletes, McColgan said, “Take sun protection seriously. Whether you’re training, racing, or even just spending time outdoors, protecting your skin matters.”
McColgan won a silver medal in the same event at the 1988 Olympic Games in Seoul. In 1991, she went on to win the 10,000m World Championships title in Tokyo.
Also read:5 Simple Do's And Don'ts For Healthy Skin
Using sunscreen protects the skin from harmful ultraviolet (UV) radiation, which causes
Sunscreen is meant to be part of a daily skincare routine. But most people reach for sunscreen when heading to the beach or stepping out for a long day in the sun.
According to dermatologists, sunlight can still reach you indoors.
Dr Khushboo Jha, Chief Dermatologist Consultant at Metro Hospital, explains that sunlight entering through windows can still affect the skin.
“While standard window glass blocks most UVB rays, which cause sunburn, UVA rays can still pass through. These rays penetrate deeper into the skin and are linked to long-term concerns such as premature aging, uneven pigmentation, and loss of skin elasticity,” she said.
These UVA rays are often overlooked because they do not cause immediate redness or burning like UVB rays. However, over time, they can lead to visible signs of skin aging and pigmentation.
Also read: Why Should You Must Apply Sunscreen Inside A Plane?
Dermatologists suggest viewing sunscreen as a preventive skincare habit rather than a rigid rule.
Dr Jha recommends incorporating sunscreen into your morning routine, particularly if your day includes stepping outdoors or spending time in naturally lit environments.
In simple terms, if daylight reaches your workspace or you plan to go outside later in the day, applying sunscreen in the morning is a small step that can help protect your skin over time.
Chronic stress can take a toll on sperm count. (Photo credit: iStock)
Many men believe that as long as they feel healthy, active, and free from major illness, their fertility remains intact. While men do not have a sudden fertility cut-off like women, age still plays an important role when it comes to male fertility. Currently, a large number of men wish to start families later in life, often thinking their good health guarantees easy conception and fatherhood. They often neglect the age factor, even though it is linked to hormonal imbalance, stress, and genetic issues. A large number of men are unaware of their fertility health and continue to suffer. However, even in the absence of visible health problems, older men may face unexpected fertility challenges. Dr Madhukar J Shinde, Fertility Specialist at Nova IVF Fertility, PCMC, Pune, answered this for Health and Me.
Read more: The Overlooked Role of Men in IVF: Why Their Silent Strength Is Key to Fertility Success
Decline in sperm quality: Various studies have confirmed that as men age, sperm count, movement, and shape can slowly decline. Even if the numbers appear normal, DNA damage in sperm increases with age, which can reduce the chances of successful fertilisation.
Men must stay in touch with a fertility consultant who can design an appropriate treatment plan. The expert will evaluate them thoroughly and suggest lifestyle modifications such as a well-balanced diet, exercise, stress management through meditation, and medication for conditions such as diabetes, hypertension, and cholesterol. Awareness helps men take informed steps towards parenthood, even later in life. Certain pre-medications, including antioxidants advised by a fertility consultant, may significantly help in reducing DNA fragmentation, which contributes to poor sperm function. Therefore, men should prioritise their reproductive health, stay informed, and not suffer in silence.
Credit: iStock
High blood pressure (BP) has become a public health problem that is driving cardiovascular diseases like heart attacks and strokes globally. While medications are important to keep hypertension under control, lifestyle changes and healthy practices are also crucial.
Several global health guidelines recommend regular physical activity, but adhering to exercise programs daily becomes a challenge for many people. But in the overtly busy schedules, sparing 10 minutes for an exercise regimen can be easier than travelling to the gym.
A large randomized clinical trial, published in the Journal of the American College of Cardiology (JACC), has proved that a traditional Chinese mind-body practice — baduanjin — may help lower blood pressure, that too, without any equipment.
Baduanjin is a slow, structured movement, focused on deep breathing and meditation.
Importantly, the clinical trial proved that the ancient Chinese technique could lower BP as effectively as brisk walking.
In people practicing baduanjin, BP reductions were seen after three months and were sustained for one year.
"Given its simplicity, safety, and ease with which one can maintain long-term adherence, baduanjin can be implemented as an effective, accessible, and scalable lifestyle intervention for individuals trying to reduce their blood pressure," said Jing Li, Director, National Center for Cardiovascular Diseases in Beijing, China.
Baduanjin is a standardized eight-movement sequence that integrates aerobic, isometric, flexibility, and mind-body components.
It has been in practice for centuries and commonly performed in community settings across China. The routine typically takes 10–15 minutes and requires no equipment and only minimal initial instruction.
Because it is low- to moderate-intensity, it is considered safe and accessible for many adults.
Also read: Cardiovascular Diseases Lead As India’s Top Killer: US Cardiologist Points Out Risk Factors
A team of Chinese researchers led the first large, multicenter randomized trial to look at the impact of baduanjin on blood pressure.
They followed 216 participants, aged 40 years or older, across seven communities to determine changes in 24-hour systolic BP from baseline to 12 and 52 weeks.
Compared to people indulging in self-directed exercise, practicing baduanjin five days a week reduced
Notably, the benefits were sustained even without ongoing monitoring, a key challenge for many lifestyle interventions that struggle to maintain long-term adherence outside structured programs.
"Baduanjin has been practiced in China for over 800 years, and this study demonstrates how ancient, accessible, low-cost
approaches can be validated through high-quality randomized research," said Harlan M. Krumholz, Editor-in-Chief of JACC and the Harold H. Hines, Jr Professor at the Yale School of Medicine.
"The blood pressure effect size is similar to that seen in landmark drug trials, but achieved without medication, cost, or side effects. This makes it highly scalable for community-based prevention, including in resource-limited settings," they added.
Also read: AHA Cholesterol Guidelines 2026: How Indians Can Improve Heart Health
How To Practice Baduanjin
© 2024 Bennett, Coleman & Company Limited