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.”

Irritable Bowel Syndrome (IBS) is becoming an increasingly important health issue among IT professionals, who are specifically at risk because of certain factors present in corporate culture. There has been a gradual rise in the prevalence of IBS among these individuals over the last ten years, due not only to better diagnosis but also to the accumulation of stress, erratic lifestyles, and physical inactivity.

What is contributing to IBS cases in the IT industry?

Dr Sudha Subhana Desai, Senior Consultant in Internal Medicine and Critical Care at Ruby Hall Clinic, Pune, said, "The first factor contributing to the development of IBS in the IT environment is constant psychological stress. Working in the information technology industry requires the ability to meet tight deadlines, maintain high-level performance, and spend many hours in front of a computer while coordinating with colleagues from different time zones. All these activities affect normal circadian rhythms, placing an individual's body under constant stress. This becomes particularly relevant as the connection between the central nervous system and the digestive tract via the gut-brain axis is involved in this mechanism. Thus, constant stress can lead to disturbances in gut motility, increased sensitisation, and an imbalance of the flora. Hence, individuals develop common IBS symptoms such as abdominal pain, bloating, constipation, diarrhoea, or an alternation between these."

How do dietary habits of IT professionals worsen IBS?

Further, Dr Desai spoke about how the dietary practices common among employees in IT professions exacerbate the issue. The expert said that the hectic nature of their work schedules often forces them to resort to unhealthy eating practices, including eating out at fast food restaurants. Their diet often consists of foods lacking dietary fibre but containing high levels of fats, sugars, and additives. This is unhealthy not only because it is nutritionally unbalanced but also because such foods may cause gastrointestinal problems. In addition, their unpredictable work hours make their diet and sleep habits less regular, thus disrupting digestive processes.

The role of lifestyle habits in IBS risk

Other lifestyle behaviours typical of employees in IT professions put them at higher risk. Firstly, a lack of exercise, which results from long working days, prolonged sitting, and little physical activity, slows down intestinal motility and decreases overall metabolism. Secondly, long screen exposure and sedentary behaviour have the same effect. Thirdly, poor sleep quality, experienced by night shift workers and those responsible for international projects, adversely impacts the hormonal balance necessary for healthy digestion. Lastly, high caffeine intake is typical of these employees, as they use coffee and energy drinks to alleviate fatigue.

While there is increased health consciousness, along with improved availability of medical care, the increase in IBS can only be partially explained by increased diagnoses. Rather, there is an actual increase due to stress factors and living patterns associated with the working environment of the IT industry.

Treating IBS among IT professionals

In the treatment of IBS among IT professionals, a number of factors must be addressed in order to help individuals cope with their conditions. One such factor is stress management. Professionals must be taught various methods of coping with stress, ranging from exercises such as yoga and breathing techniques to more structured interventions. The environment must also be conducive to health and well-being. In other words, organisations must facilitate a healthy working environment and encourage individuals to achieve a work-life balance while reducing any workload stresses. Professionals must also make alterations to their dietary habits, including eating regularly, having fibre-rich meals, and avoiding highly processed foods.

Did you know? Discontinuing activities and overly restrictive behaviour, including unnecessary bed rest, does not improve implantation chances when it comes to IVF. Instead, balanced living, moderate activity, proper nutrition, and emotional well-being are important after the procedure. Hence, make sure to follow the advice given by a fertility consultant. Women should prioritise their health.

A failed IVF attempt is not just a financial crisis but also an emotional rollercoaster. For several couples struggling with infertility, IVF offers a ray of hope and may even help them conceive a baby. However, sometimes the attempt can fail due to several reasons, but do not let that affect your motivation to engage in your favourite activities.

Dr Rashmi Agarwal, Fertility Specialist, Nova IVF Fertility, Gurugram, in an interview with Health and Me, spoke about the rising incidence of infertility in young couples, and how following a restricted behaviour may only lower the odds of conceiving a baby.

How is IVF coming to the rescue of young couples?

Infertility cases are rising among couples. There are a large number of couples who struggle with infertility and opt for in vitro fertilisation (IVF). However, couples tend to have doubts regarding it. For those who undergo IVF, the period after embryo transfer is filled with hope, anxiety, and a strong urge to “do everything right”. Many women feel that after the procedure, complete bed rest, taking it easy, and avoiding any activity can increase the chances of pregnancy. However, maintaining a balanced routine is often more beneficial than extreme rest.

What happens after an embryo transfer

After embryo transfer, many patients assume that movement could disturb implantation, and they suddenly avoid all activities without asking the doctor. They try not to walk, work, or do any household chores. But do not worry or panic, as the embryo is safely placed inside the uterus and cannot “fall out” with normal movement. The body is naturally designed to support implantation. There is no evidence available that claims that strict bed rest improves success rates. However, staying inactive for long periods can lead to stiffness, poor blood circulation, and increased stress or anxiety, which can take a toll on overall well-being.

How to improve chances of IVF success

Light activities like walking, gentle stretching, and routine household tasks are generally safe, as recommended by the doctor. Eating a nutritious diet, staying hydrated by drinking 3–4 litres of water per day, de-stressing by doing meditation or reading, and getting enough sleep can be beneficial for women. Many women can also overthink, become anxious, and constantly worry about pregnancy. Hence, opting for relaxing activities like deep breathing, meditation, reading, staying connected with loved ones, and maintaining a positive mindset can help patients cope better during the waiting period, although it is not advised to overexert or do any strenuous activities without the doctor’s knowledge.

Following the expert’s instructions without fail, staying active, doing light exercises, and paying attention to physical and emotional well-being can support a smoother IVF journey.

Delhi-NCR witnessed unexpected showers in the city this year in the month of April. Before the heatwave could get as severe as it usually is every season, there were a few days where the national capital witnessed refreshing showers—but as it turns out, these showers often increase the risk of diseases like malaria. Yes, unexpected showers may bring temporary relief from heat, but they also quietly reset the risk for diseases like malaria. The concern today is not just rainfall, but how changing climate patterns are shifting the timeline of disease transmission—often weeks before the monsoon fully arrives.

Ahead of World Malaria Day, Dr Suranjit Chatterjee, Senior Consultant-Internal Medicine, Indraprastha Apollo Hospital, Delhi, spoke about the effects of such unexpected rains ahead of the monsoon season.

Has the malaria pattern changed?

Malaria has long been seen as a monsoon-linked illness, but that pattern is changing. Intermittent rainfall, rising temperatures, and increased humidity are now creating ideal breeding conditions much earlier in the year. Even a short spell of rain can lead to water accumulation in urban areas—on terraces, construction sites, in clogged drains, and in poorly managed storage spaces. These become hidden breeding grounds for mosquitoes, accelerating their life cycle and increasing the risk of early transmission.

When should you get tested for malaria?

From a healthcare perspective, this shift is significant. The first fever after early showers is often overlooked or dismissed as a seasonal viral infection. However, malaria in its early stage can closely resemble common viral illnesses, presenting with symptoms such as fever, chills, headache, body ache, and fatigue. This overlap frequently delays diagnosis. Any fever that persists beyond 2–3 days, recurs, or does not respond to basic treatment should be tested promptly. Early detection remains critical to preventing complications.

What are the symptoms of malaria?

Early malaria can look like a common viral fever. The symptoms of the disease are:

1. Body aches
2. Fever
3. Chills
4. Weakness
5. Headaches

Malaria prevention matters

Waiting for the monsoon to begin preventive action is no longer effective. The response must start with the first signs of rain. Clearing drains, eliminating stagnant water, monitoring construction zones, and ensuring proper waste management are essential early steps. At the household level, covering water containers, maintaining clean terraces, and regular checks for water accumulation can significantly reduce risk. Some of the key precautions to take against malaria are the following:

1. Use a mosquito repellent before going outdoors
2. Wear long sleeves and light coloured clothes
3. Use bed nets
4. Avoid keeping the windows open, especially in the evening
5. Standing water are breeding ground for malaria; avoid water sit in coolers or pots for too long

A year-round public health priority

World Malaria Day serves as a reminder that malaria prevention is not seasonal—it is continuous. In an era of unpredictable weather patterns, cities and communities must adapt quickly. Acting only when cases begin to rise means reacting too late. The real shift lies in recognising that prevention must begin with the first unexpected shower, not the peak of the monsoon.