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.”

Delhi's Air Quality Index today recorded 'severe' in several location. The Central Pollution Control Board (CPCB) data from 40 monitoring stations from across the city showed AQI above 401 at 7.05 am on Wednesday morning. City's average AQI stood at 376.

While it has only been three days into December, the AQI levels have undergone severe changes. On November 30, Delhi's AQI was recorded at 279, on December 1, it was recorded at 304, while on December 2, the AQI went up to 372.

Amid all this, Dr Ritu Singh, Director Professor and HOD, Department of Biochemistry at Lady Hardinge Medical College posted on her Instagram, what she calls the 'only steps to save your lungs in Delhi".

What Does the Doctor Say?

"If you’re living in Delhi right now, the first line of protection is simple: avoid breathing unfiltered air. If you can’t leave the city, wear an N95 mask every time you step outside or move away from a HEPA-filtered space," says Dr Ritu Singh.

The doctor points out that keeping a high quality HEPA filter at home and at your workplace is essential. She points out that though it may be expensive, but one should know that their "lungs are not replaceable". She says, "Yes, spend all your hard earned money on HEPA filters because the lung is not replaceable."

What Is HEPA Filter? How Does It Help?

As per the US Environmental Protection Agency (EPA), HEPA or also known as the high efficiency particulate air is a type of filter that can theoretically remove at least 99.97% of dust, pollen, mold, bacteria, and any airborne particles with a size of 0.3 microns (µm). The diameter specification of 0.3 microns corresponds to the worst case; the most penetrating particle size (MPPS). Particles that are larger or smaller are trapped with even higher efficiency. Using the worst case particle size results in the worst case efficiency rating (i.e. 99.97% or better for all particle sizes).

What Else Can Be Done To Stay Safe From Air Pollution?

Dr Singh suggests that indoor plants could be added, though it could only offer a "small but meaningful improvement in air quality".

One famous NASA experiment, published in 1989, found that indoor plants can scrub the air of cancer-causing volatile organic compounds like formaldehyde and benzene.

These plants are:

• Spider Plant
• Snake Plant
• Peace Lilly
• Aloe Vera
• Boston Fern
• English Ivy
• Rubber Plant
• Golden Photos
• Bamboo Palm
• Dracaena

The doctor also recommends that one should increase their intakes of antioxidant foods. "Increase your antioxidant intake—turmeric, amla, oranges—these won’t fix pollution, but they help your body cope with oxidative stress.”

Antioxidants strengthen the immune system by fighting oxidative stress, which is caused by unstable molecules called reactive oxygen species (ROS). The body's normal processes, like breathing and metabolism, create free radicals (ROS). Antioxidants donate electrons to these unstable molecules, which neutralizes them and stops them from damaging healthy cells.

"Right now, the goal is extremely clear: prevent inhalation of polluted air. Delhi’s current levels are dangerous for the lungs, the heart, and the entire respiratory system," the doctor says.

India is only second in the world to have people with chronic kidney diseases in 2023, said The Lancet study. In 2023, China recorded 152 million patients with chronic kidney disease (CKD), while India was at 138 million.

The study, led by researchers from the Institute for Health Metrics and Evaluation (IHME) at the University of Washington, along with collaborators in the U.S. and the U.K., found that CKD was the ninth-leading cause of death worldwide, claiming nearly 15 lakh lives in 2023.

Regionally, the highest prevalence was reported in North Africa and the Middle East (18% each), followed by South Asia (nearly 16%), and more than 15% in Sub-Saharan Africa, Latin America, and the Caribbean.

In fact, senior director and HOD Nephrology at Medanta Kidney and Urology Institute, Dr Shyam Bansal says, "Chronic kidney disease is one of the fastest-growing chronic illnesses in India, mainly because diabetes and hypertension are becoming more common. Diabetes now affects about 10% of the population and hypertension nearly 25%, and together they remain the leading causes of kidney disease."

The report also highlighted CKD’s strong link to heart disease. It contributed to almost 12% of global cardiovascular deaths in 2023 and ranked as the seventh-leading cause of heart-related mortality, ahead of diabetes and obesity.

The researchers outlined 14 key risk factors for CKD, with diabetes, hypertension, and obesity contributing the most to the loss of healthy life. Dietary habits—such as low intake of fruits and vegetables and high sodium consumption, also played a significant role in raising CKD risk.

“Chronic kidney disease is both a major risk factor for other leading causes of health loss and a significant disease burden in its own right. Yet, it continues to receive far less policy attention than other non-communicable diseases, even as its impact grows fastest in regions already facing the greatest health inequities,” said senior author Theo Vos, professor emeritus at IHME.

The findings draw on data from the Global Burden of Disease (GBD) 2023 study, which tracked trends in diseases, injuries, and health risk factors across 204 countries and territories from 1990 to 2023.

Importance of Early Detection Of Chronic Kidney Disease

Importantly, the authors noted that most people with CKD in 2023 were in the early stages, highlighting the urgent need for strong screening programmes and strategies to reduce risk before the disease advances.

This is why its early diagnosis is utmost important. Dr Bansal on the need for early detection says, "“The biggest challenge is identifying people at risk as early as possible. Early diagnosis and timely control of risk factors are essential if we want to slow the progression of chronic kidney disease."

Early detection could also reduce heart-related deaths due to kidney disease and delay one's requirement for replacement therapies, which is usually sought in advanced stages of the disease.

Dr Bansal also points out that early detection could help one live a better life and also in many ways reduce the burden on the Indian healthcare system, and save cost. "We are dealing with a large population at risk, and kidney disease is complex and costly to treat. While infrastructure and specialist availability are improving, managing this growing burden remains a significant challenge," he says.

A GP has raised concern about a key sign that may show you have Covid rather than a cold or flu. Winter illnesses often look alike, which makes it hard to tell them apart, and getting the right diagnosis is important for proper care. Dr Rupa Parmar, GP and medical director at Midland Health, explained that there are certain clues that can help people understand what they are dealing with. She advised that anyone unsure should check with their doctor, as it is safer to ask than ignore a concern.

Why Breathlessness Matters

Dr Parmar noted that shortness of breath stands out as a sign of Covid. It rarely appears in a cold or flu, but it is common with Covid because the infection tends to affect the lungs and cause inflammation. The NHS also lists breathlessness as a sign linked more strongly with Covid than with flu or a cold. This symptom is also seen in conditions such as respiratory syncytial virus. In some cases, people with the flu who do not recover and worsen may develop breathing trouble if they develop complications such as pneumonia.

How Cough Patterns Differ

She added that coughs appear in all three infections, but they do not sound the same. A cold usually causes a light cough, flu tends to bring a dry one, and Covid usually causes a dry, ongoing cough. Many people with Covid cough for more than an hour or have several episodes of coughing through the day.

Loss Of Taste Or Smell As A Warning Sign

Another clue is a change in taste or smell. Dr Parmar said this sign is more specific to Covid. A sudden loss of taste or smell, or even a noticeable change, is more likely linked to the coronavirus. She explained that the pattern of symptoms often helps point to the right illness. A mild cough and sore throat usually fit a cold, a fever and strong fatigue suggest flu, and a loss of smell or taste with a steady cough point to Covid.

How Symptoms Begin And Progress

She also noted that the start of symptoms can differ. A cold tends to appear slowly, flu symptoms usually show up quickly within a few hours, and Covid can begin with mild signs that grow stronger over time. A cold mainly affects the nose and throat, while flu and Covid can cause symptoms across the body.

What To Do If You Have Covid Symptoms

Even though there are no formal self-isolation rules anymore, the NHS advises people to stay home and limit contact with others if they or their children have symptoms and either have a high temperature or feel too unwell to manage daily activities at work, school, or home. The NHS states that people can return to their usual routine once they feel well again or no longer have a high temperature.