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.”

Heart failure has quietly emerged as one of India’s most serious and underestimated health challenges, driven by a rise in hypertension, diabetes, obesity, and delayed diagnosis of heart disease.

Due to a shortage of donor organs and a long waiting period before receiving the right treatment, end-stage heart failure patients in India faced a lot of difficulties a few years ago.

Today, advancements in heart transplant techniques are changing the situation from what was once an untreatable condition to a second chance at life.

Data from the National Organ and Tissue Transplant Organization (NOTTO) shows a significant year-on-year rise in heart transplants, with 253 transplants done in 2024, showcasing improved organ donation awareness, better coordination between hospitals, and stronger transplant networks.

What was once considered the only option is now emerging as a life-saving solution, offering patients not just a second chance but a return to a more meaningful and active life.

Why Are Heart Transplants Needed?

A heart transplant offers hope and gives a second life to patients whose hearts no longer support the body even after the best available medical aid.

Although it is never performed instantly, it becomes necessary whenever conditions of the heart result in end-stage heart failure, where the pumping function of the heart is compromised.

Also read: Harish Rana’s Family Donated His Heart Valves And Corneas After His Death From Passive Euthanasia

When medications and modern technologies cannot supply an adequate amount of blood and oxygen to the organs, patients experience extreme breathlessness, fluid buildup, fatigue, and repeated hospitalizations, making even simple activities like walking, eating, or lying flat exhausting.

As the flow of blood continues to deteriorate, failure is also expected in other vital organs such as the kidneys and liver. It is at this point that the transplantation of the donor heart is considered the only treatment option to ensure that the blood flow is normalized.

How Heart Transplantation Transforms Life?

Heart transplant is not just a surgical replacement of a failing organ, but a complete life restoration for patients with end-stage heart failure.

Its benefits include:

• Normalizes Heart Functioning: A healthy donor heart can immediately restore normal and effective blood flow. This will reduce weakness and fatigue that makes carrying out everyday tasks rather difficult.
• Enhances Survival Rates: Patients diagnosed with end-stage heart failure can only experience the best post-transplant survival outcomes when they undergo the transplant procedure as compared to other medical treatments.
• Enhances Quality of Life: The patients are able to attain independence once again as they are able to walk, sleep, travel, and socialize with their families and friends.
• Prevents Frequent Hospitalization: The successful transplant procedure prevents constant hospitalization, especially in cases with deteriorating heart failure, infections, and organ dysfunction.
• Protects Other Vital Organs: By restoring adequate blood flow, heart transplantation helps reverse damage to the kidneys, liver, and lungs caused by prolonged heart failure
• Permits Return to Normal Roles and Responsibilities: Patients regain their ability to work, take care of others, and carry out their daily responsibilities, which helps their emotional well-being.

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

Why Sunscreen Is Essential

Using sunscreen protects the skin from harmful ultraviolet (UV) radiation, which causes

• skin cancer,
• premature aging,
• painful sunburns.

Should Sunscreen Be Used Indoors Too?

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?

A Practical Approach To Daily Skincare

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.

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

Why do older men struggle with infertility?

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.

1. Hormonal imbalance: It is important to note that testosterone levels naturally decrease over time. Lower testosterone can affect sperm production, sexual function, and overall reproductive performance, even when a man feels physically fit.
2. Some medical conditions tend to take a toll on fertility: Conditions such as diabetes, high blood pressure, and thyroid disorders become more common with age. These may be well-managed and symptom-free, but can still affect sperm health and fertility.
3. Stress and other lifestyle factors can impact fertility: Chronic stress, lack of sleep, smoking, alcohol consumption, or exposure to pollution can take a toll on sperm quality and lead to fertility issues that can be worrisome for men. Preservatives in a lot of frozen and junk food not only contribute to poor fertility health, but research suggests they may also affect DNA function. Therefore, men should stay vigilant.
4. Genetic issues: Advanced paternal age is associated with a higher risk of genetic mutations in sperm. This can further affect embryo development and increase the risk of miscarriage or certain developmental conditions.

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.