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.”

When John Cena started noticing blurry vision, he assumed it was simply part of getting older. But the worsening eyesight was also accompanied by redness, itchiness and crusting around his eyes.

“I had a lot of redness and itchiness, and every once in a while, waking up with eye crusties and stuff. At the same time, given my age — I'm 49 now — my vision was going a little bit, so I just figured it was par for the course. But because my vision was going, I needed to see if I needed glasses or prescriptions.”

Until then, Cena had delayed getting his eyes checked. He believed that the symptoms were caused by bright lights, excessive screen time or ageing.

However, an eye examination gave him a surprise. Cena learned that his symptoms were caused by Demodex blepharitis, a condition he says he had never heard of.

“Diagnosed with Demodex blepharitis, which I didn't even know existed.”

What Are Demodex Mites?

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Demodex mites are tiny, eight-legged organisms that live naturally on human skin, particularly around hair follicles. Measuring just 0.15 to 0.4 millimeters, they are invisible to the naked eye but are present on the skin of almost every adult.

These microscopic mites feed on sebum (the skin's natural oil) and dead skin cells, helping remove accumulated debris under normal conditions.

How Do Demodex Mites Work?

Demodex mites are most active at night. They emerge from hair follicles after sunset because ultraviolet (UV) light is harmful to them. While people sleep, the mites feed, crawl and reproduce on the skin's surface.

They are also believed to be stimulated by melatonin, the hormone that helps regulate sleep, creating a unique relationship between humans and these naturally occurring organisms.

When Can Demodex Mites Become A Problem?

Although harmless in small numbers, Demodex mites can cause problems if they multiply excessively—a condition known as demodicosis.

According to Dr. Richard Locksley, professor of medicine at the University of California, San Francisco, an overgrowth of Demodex mites can contribute to:

• Rosacea
• Blepharitis (eyelid inflammation)
• Acne-like breakouts
• Itchy, inflamed skin

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People with weakened immune systems are particularly vulnerable because their bodies may be less able to control mite populations. In addition, inadequate sleep may increase oil production, providing more nourishment for the mites.

Should You Be Worried?

For most healthy people, Demodex mites are a normal part of the skin microbiome and are not considered harmful. Problems generally arise only when their numbers increase significantly.

To help reduce the risk of overgrowth:

• Wash your face every night with a gentle, non-comedogenic cleanser to remove excess oil and debris.
• Remove eye makeup and false eyelashes before bed, as these can encourage mite buildup.
• Get adequate sleep, since poor sleep may increase sebum production.
• Consult a dermatologist if you experience persistent redness, itching or inflammation around the eyes or skin.

Common Sports Injuries and How to Prevent Them by Dr Sumit Batra. Whether you're training for a marathon, playing pickleball with friends, or simply trying to stay fit at the gym, being active is one of the best things you can do for your health. But every sport is unique and places different demands on your body. Without the right preparation, even a fun weekend workout can leave you with an injury that keeps you on the sidelines. Often, I see people whose injuries could have been avoided by warming up properly, increasing their training slowly, and paying attention to pain. Many think the pain will go away on its own, but getting it checked early can help prevent bigger problems.

Several types of common sports injuries show up suddenly, while others build up over time. Ankle sprains are among the most common. They usually happen when the foot rolls awkwardly during running, jumping, or changing direction quickly. Simultaneously, Knee injuries are another common problem, especially in sports that involve sudden stops, pivots, or jumps, so the ligaments, cartilage, or tendons around the knee can be affected, making movement painful and unstable.

Muscle strains in the hamstrings and calves often occur when muscles are pushed harder than they're ready for. Skipping a warm-up or increasing the intensity of your workouts too quickly can raise the risk.

Athletes who play cricket, tennis, or volleyball, or who spend long hours swimming, may also develop shoulder pain due to repeated overhead movements. And then there are overuse injuries like tennis elbow, shin splints, and Achilles tendinitis, which develop slowly after repeated stress without enough recovery.

How to Reduce Your Risk

The good news is that most sports injuries can be prevented. Start every workout with a proper warm-up. Just five to ten minutes of light movement and stretching can help prepare your muscles and joints for exercise.

Strength training is equally important. Strong muscles support your joints, improve balance, and help your body absorb the impact of running, jumping, and lifting.

It's also important not to rush your progress. Whether you're preparing for a race or trying heavier weights, increasing the intensity little by little gives your body time to adapt safely.

Recovery deserves just as much attention as training. Good sleep, proper hydration, balanced meals, rest days, and well-fitting sports shoes all play a role in keeping injuries away.

Listen to What Your Body Is Telling You

Always listen to your body—it often gives warning signs before it's too late. Feeling sore after a challenging workout is completely normal. But pain that doesn't improve, swelling, difficulty putting weight on a limb, or restricted movement shouldn't be ignored. Getting the injury checked early often means a quicker recovery and lowers the chances of long-term problems. Sports injuries can happen to anyone, whether you are a seasoned athlete or someone who enjoys staying active on weekends. A little preparation, sensible training, and adequate recovery can go a long way in preventing them. And if something doesn't feel right, don't wait for it to get worse. Early care can make all the difference in getting you back to doing what you love.

Dr. Sumit Batra, Consultant Orthopaedic & Spine Surgeon at PB Health

Gone are the days when constipation was considered a problem only among older adults. Today, an increasing number of young professionals are experiencing irregular bowel movements, bloating, abdominal discomfort, and a constant feeling of incomplete evacuation. The fast-paced corporate lifestyle, long working hours, unhealthy eating habits, and chronic stress have made constipation a common digestive concern among people in their 20s and 30s.

One of the biggest contributors is a sedentary lifestyle. Many professionals spend eight to ten hours sitting at a desk, with little time for physical activity. Regular movement helps stimulate bowel function, and a lack of it can slow down digestion. Another common cause is poor dietary habits. Skipping breakfast, relying on processed or fast foods, and consuming inadequate amounts of fibre can significantly affect bowel health.

Hydration also plays a vital role. Busy schedules often lead people to consume more coffee or tea while neglecting water intake. Dehydration makes stools harder and more difficult to pass, increasing the risk of constipation. Stress is another major factor. Deadlines, work pressure, and poor sleep can disrupt the communication between the brain and the gut, affecting normal bowel movements. Ignoring the natural urge to pass stools due to meetings or travel can further worsen the condition over time.

The good news is that constipation can often be managed through simple lifestyle changes. A balanced diet rich in fibre from fruits, vegetables, whole grains, legumes, and nuts helps add bulk to stools and promotes regular bowel movements. Drinking at least two to three litres of water daily keeps stools soft and easier to pass.

Regular physical activity is equally important. Even a brisk 30-minute walk, stretching during work breaks, or choosing stairs over elevators can improve gut motility. Maintaining a consistent toilet routine, preferably after breakfast, and responding promptly to the body's natural urge can also help establish healthy bowel habits.

Stress management should not be overlooked. Practising yoga, meditation, deep breathing exercises, or simply ensuring adequate sleep can positively influence digestive health. Limiting excessive consumption of processed foods and caffeinated beverages can also reduce the risk of constipation.

While occasional constipation is usually not a cause for concern, persistent symptoms lasting more than three weeks, severe abdominal pain, blood in the stool, unexplained weight loss, or constipation alternating with diarrhoea should never be ignored. These could indicate an underlying medical condition that requires evaluation by a gastroenterologist.

Healthy digestion is closely linked to overall well-being and productivity. By adopting healthier daily habits and paying attention to digestive health, young professionals can prevent constipation, improve their quality of life, and maintain better physical and mental performance at work.

By Dr. Pradeepta Kumar Sethy, Director, Gastroenterology, Manipal Hospital, EM Bypass & Mukundupur