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.”

Every year on May 5, World Asthma Day is observed, an event that aims at spreading awareness about the respiratory disorders. While asthma is becoming a common occurrence in India, citing excessive pollution and unhealthy lifestyle choices. But in a shocking revelation on the occasion, Dr. Gitika Sanodia, Consultant Dermatologist at Dr L H Hiranandani Hospital, Powai, revealed that leaving eczema untreated could lead to chronic asthma. Talking about it, Dr Sanodia answered some common FAQs about eczema and asthma.

Can untreated eczema cause asthma?

Yes, especially for those suffering from early childhood onset of moderate/severe atopic dermatitis. Eczema is not always limited to being solely a skin condition. In many cases, patients who suffer from eczema actually have one part of the atopic triad, which means the patient's skin barrier is dysfunctional, allowing for allergens to enter and sensitize the immune system. With time, the same tendency can impact other organs, causing allergic rhinitis or asthma. However, it must be noted that not all children with eczema develop asthma.

Why does everybody treat eczema as merely a skin problem?

Because of symptoms including itching, dryness, redness, scaling, and oozing from the skin. The families take care to control the acute phase of eczema while ignoring the patient's predisposition to allergies. Furthermore, atopic dermatitis is an inflammatory skin condition that is accompanied by impaired skin barrier function, immune dysfunction, and environmental factors. Moreover, according to DermNet, atopy is a term used for conditions where eczema, rhinitis, and asthma happen together.

Early signs for which parents and adults should be vigilant

Parents should worry if their children with eczema exhibit recurrent coughs, wheezing, noisy breathing, difficulties breathing during playtime, nighttime coughing, chest tightness, frequent sneezing, nasal blockage, allergic rhinitis, or exacerbation of symptoms following exposure to dust, animal dander, pollens, airborne particles, or fluctuating environmental conditions.

Is eczema therapy sufficient to prevent the development of asthma?

Successful treatment of eczema can help minimize the chances of allergens penetrating the skin barrier and allergic inflammation. Nonetheless, it would not be accurate to predict with certainty that eczema therapy will effectively prevent the onset of asthma. Literature recommends the prompt restoration of the skin barrier function, regular application of moisturizing agents, avoiding triggers such as fragrances and harsh soaps, managing flare-ups with prescription corticosteroid creams, controlling infections, and referring patients with severe eczema cases.

Is it a significant public health concern?

Yes. This condition is becoming more common, especially among children. If not controlled effectively, eczema will result in poor sleeping habits, difficulties with academic performance, reduced quality of life, greater susceptibility to infections, and potentially even links to other allergies. People lack sufficient information regarding the condition because they normally medicate themselves by applying whatever ointment or steroid to their skin.

Asthma is often thought of as an "outdoor" problem, with triggers such as smog, pollen, or car exhaust. But for many, the real danger may be sitting right there on the sofa or hiding under the sink.

The chronic condition affects over 260 million people. It is also responsible for over 450,000 deaths each year worldwide.

If you're doing everything right with your inhaler but still feel that tightness in your chest, it’s time to look at silent indoor triggers.

1. The Bedding "Dynasty"

“It’s a bit unsettling, but your mattress is likely home to millions of microscopic dust mites. They love the warmth and humidity of a bed. You won't see them, but you’ll feel them,” Dr. Sandeep Nayar, Principal Director & HOD - Chest & Respiratory Diseases, BLK Max Super Speciality Hospital, told HealthandMe.

The Fix: Don’t just wash your sheets; use hot water (60°C). If you haven't encased your pillows in allergen-proof covers yet, make that your priority this weekend.

2. Moisture is the Enemy

Dr Nayar said mold isn't always a giant green patch. It hides in the "sweat" behind your wallpaper or the damp corners of a bathroom that doesn't vent well. If a room smells even slightly musty, mold spores are likely in the air.

The Tip: Keep your home's humidity below 50 per cent. A simple dehumidifier can sometimes do more for your lungs than an extra dose of medicine.

3. It’s Not Just the Fur

Many people think "hypoallergenic" pets are the cure. It’s actually a protein in pet saliva and skin flakes (dander) that causes the flare-up.

The Reality: Even if you keep the dog off the bed, dander travels on your clothes. HEPA air purifiers are a must-have if you share your home with a furry friend.

4. The "Clean" Smell Myth

That "fresh lemon" scent or your favorite scented candle? Those are Volatile Organic Compounds (VOCs). To a sensitive lung, those chemicals are irritants, not cleaners.

The Switch: Move toward fragrance-free products. If a cleaning spray makes you cough, your body is telling you everything you need to know.

5. Urban Uninvited Guests

In cities, cockroach droppings are a massive, often ignored asthma trigger. Their proteins mix with household dust and get kicked up every time you walk across the floor.

The Strategy: Seal the cracks in your walls and keep the kitchen bone-dry.

Other asthma triggers include dust mites, pet dander, indoor smoke, and strong cleaning agents that can worsen symptoms over time

How To Prevent Indoor Asthma Triggers

Dr. Manisha Mendiratta, Director & Head - Pulmonology, Sarvodaya Hospital, Faridabad, told HealthandMe that the key is prevention through simple, consistent habits. To make a meaningful difference, the expert urged people to

• ensure good ventilation,
• reduce indoor humidity,
• clean soft furnishings regularly,
• avoid aerosol-based products.
• ise air purifiers,
• keep windows open when possible,
• creating a smoke-free space.

“Most importantly, patients should identify their personal triggers and act early, because managing their indoor environment is just as critical as managing their medication,” added Dr. Mendiratta.

Cancer is a complex disease, and its diagnosis often involves multiple tests, procedures, and high costs. Patients frequently undergo several blood draws and investigations before a clear result is reached.

Now, a revolutionary new low-cost test has shown promise in detecting multiple cancers using just a single blood sample.

Beyond cancer detection, the test may also help identify various liver conditions and organ abnormalities by analyzing DNA fragments circulating in the bloodstream.

The test, developed by scientists at the University of California, Los Angeles, is known as MethylScan. The novel test works by analyzing cell-free DNA, tiny fragments of genetic material released into the blood when cells die.

In early tests, MethylScan detected about 63 per cent of cancers across all stages and roughly 55 per cent of early-stage cancers.

The test, described in the journal Proceedings of the National Academy of Sciences, could offer a powerful and more affordable approach to early disease detection and comprehensive health monitoring.

“Early detection is crucial,” said Dr. Jasmine Zhou, Professor of Pathology at UCLA Health.

“Survival rates are far higher when cancers are caught before they spread. If you detect cancer at stage one, outcomes are dramatically better than at stage four,” Dr Zhou added.

How Does The New Cancer Test Work?

MethylScan studies DNA methylation—chemical tags on DNA that reflect tissue health and can change when disease develops.

Since most circulating DNA comes from healthy cells, advanced machine learning is used to identify subtle disease signals.

The New Cancer Test Is A Health Radar

In the study, MethylScan analyzed blood samples from 1,061 people, including patients with liver, lung, ovarian, and stomach cancers.

For multi-cancer detection, the test achieved a high level of overall accuracy. At a specificity of 98 per cent, meaning few false positives, it detected about 63 per cent of cancers across all stages and roughly 55 per cent of early-stage cancers.

The test also performed well in liver cancer surveillance among high-risk individuals, including those with liver cirrhosis or HBV. It detected nearly 80 per cent of cases at a specificity of just over 90 per cent, meaning a less than 10 per cent false positive rate.

The blood test could also distinguish between different types of liver disease, including viral hepatitis and metabolic-associated liver disease. It correctly classified about 85 per cent of patients, suggesting blood-based DNA testing could reduce the need for invasive liver biopsies.

In addition, the researchers noted that MethylScan can work like a health radar for the body. By reading DNA signals in the blood, it can tell when specific organs, such as the liver or lungs, are under stress or damaged, even without knowing the disease in advance.

“This study demonstrates that blood-based methylation profiling can deliver clinically meaningful information across multiple diseases,” said Zhou. “It’s an exciting advancement that brings us closer to realizing the dream of a single assay for universal disease detection.”