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.”

Chronic obstructive pulmonary disease (COPD) has long been seen as a condition of older adults, typically tied to years of smoking. But across India, pulmonologists are increasingly diagnosing it in people in their 20s and 30s. This shift, experts say, reflects a deeper and more troubling change: young adults are growing up and living in environments where the lungs never truly get a chance to breathe clean air.

A Shift From “Smoker’s Disease” to “Exposure Disease”

The biggest change is the cause itself. As Dr. Raja Dhar, Director & HOD, Pulmonology, CK Birla Hospitals, CMRI Kolkata, explains, “COPD is increasingly becoming an ‘exposure disease’ rather than a ‘smoker’s disease.’ In India, non-smoking COPD is numerically a much larger problem.”

This exposure begins early—sometimes in childhood.

Dr. Dhar highlights how even limited exposure can have lifelong consequences: “Severe airway obstruction can be traced back to just six to seven years of biomass smoke exposure in a poorly ventilated kitchen during a child’s formative years.”

Dr. Harshil Alwani, Consultant – Pulmonology, CK Birla Hospitals, Jaipur, also points to the changing risk profile. According to him, “newer epidemiological data show that non-smoking drivers—especially air pollution and occupational exposures—are playing a disproportionately large role in younger people.” He adds that rapid urbanisation means more young adults are chronically breathing polluted air from childhood onwards.

Improved diagnosis and greater awareness also mean younger patients with persistent symptoms are now being evaluated more often, he notes.

Beyond Smoking: The Real Culprits Behind Early COPD

Air Pollution

Both experts agree that polluted air is the biggest trigger today. Dr. Alwani explains that long-term exposure to PM₂.₅ is directly linked to lung decline and COPD. “Recent research shows that temperature and humidity modulate the harmful effect of PM₂.₅, making COPD risk worse under certain climatic conditions,” he says.

Dr. Dhar adds that India’s air quality is deteriorating nationwide: “Ambient outdoor air pollution is a severe risk, as air quality across 98% of India is worse than WHO standards.”

Indoor Pollution

Household pollution remains a massive issue. Biomass fuel used for cooking is, as Dr. Dhar puts it, “the largest non-smoking contributor, resulting in numbers approximately three times that of smoking-related COPD.”

Occupational Hazards

Young adults working in construction, mining, welding, or factory settings face daily exposure to dust, fumes, and chemicals. Dr. Alwani notes that such environments “carry a significantly increased risk.”

Childhood Lung Infections

Recurrent infections can impair lung development and reduce lung reserve, making early-onset disease more likely.

Genetic Factors

Conditions like alpha-1 antitrypsin deficiency, though rare, still contribute when combined with environmental triggers.

Delhi’s Winter Pollution: A Direct Route to Lung Damage

Every winter, Delhi’s smog becomes a health emergency. According to Dr. Dhar, “High winter pollution, particularly hazardous levels of PM2.5, acts as a chronic, low-grade chemical burn on the young respiratory system.”

Dr. Alwani adds that winter inversion traps pollutants closer to the ground, amplifying PM₂.₅’s damage.

The Vaping Problem

Vaping and e-cigarettes, widely perceived as harmless, have added a new layer of risk. Dr. Alwani warns, “Vaping is not benign. Its aerosols contain volatile compounds, heavy metals, and ultrafine particles that trigger inflammation and oxidative stress—central pathways to COPD.”

Dr. Dhar echoes this concern: “Any inhalation of heated chemical aerosols is a significant lung irritant and pro-inflammatory agent.”

Symptoms Young Adults Should Never Ignore

Doctors urge young adults not to dismiss symptoms like:

• Persistent cough
• Breathlessness during routine activity
• Wheezing or chest tightness
• Frequent colds or bronchitis
• Fatigue or reduced stamina

Why Early Diagnosis Matters

Early spirometry can dramatically change outcomes. As Dr. Dhar puts it, “Early intervention allows us to remove the source of exposure and start therapy, which can effectively preserve the patient’s remaining lung function.”

Dr. Alwani adds that catching the disease early can “significantly slow further lung damage” and prevent long-term complications.

We all know the feeling of FOMO, the fear of missing out, but there exist another fear, this is FOFO: the fear of finding out. This apprehension is what keeps people from boking their health screenings. The horrors of what will happen after a mammogram, a Pap smear, an STD test, blood panel, or even something as simple as a blood pressure check can scare those with FOFO.

While the term itself is not a medical diagnosis, it is a widely recognized behavioral pattern that both patients and doctors get to see frequently. Over the years, it has gained more attention among experts who deal with health anxiety. As one clinical psychologist explains, there isn’t much published research on FOFO, but practitioners who work with health-related anxiety are very familiar with its impact.

What is even worrying is how common this avoidance has become. As per a 2025 survey of 2,000 employed US adults, 3 out 5 avoid medical screenings altogether, due to fear of bad news or embarrassment. Another 2025 reveal that of 7,000 adults, only 51% attended a routine medical appointment of cancer screening, with a 10% drop from 2024.

The attitude is: "If I don't know it, I can't have it".

Where Does FOFO Come From?

According to psychologists, FOFO often roots itself in anxiety and the desire for control. When something feels uncertain—like a health test result—many people instinctively avoid it. Avoidance becomes a way to quiet the anxiety, at least temporarily.

Experts say FOFO is especially common in people with generalized anxiety disorder, OCD, or illness anxiety disorder. But anyone can experience it. For some, it’s a one-off situation—like hesitating over a prostate exam. For others, it’s part of a broader coping style that involves avoiding anything that feels threatening. Ironically, this sometimes goes hand in hand with endlessly checking symptoms online.

Previous negative experiences in healthcare settings can also feed FOFO. Some people feel anxious around doctors or medical procedures, while others fear being judged, especially when a screening could uncover conditions that carry social stigma—such as STDs. There’s also the fear of receiving results that might force lifestyle changes or treatments they’re not ready for.

A common unspoken belief behind FOFO is:

“If I don’t take the test, then the problem doesn’t exist.”

Waiting for test results adds to the anxiety too. When results take days or weeks, the uncertainty can feel more stressful than the test itself.

How Can You Break The FOFO Cycle?

The first step is by acknowledging what is at stake. Many experts recommend weighing the pros and cons of taking the test versus avoiding it. If FOFO is holding you back, ask yourself what exactly you’re afraid of. Many people underestimate their ability to handle bad news. Understanding this can help reduce the emotional weight of screening.

It’s also helpful to reflect on a few important questions:

• Do I want fear to dictate my health choices?
• What could happen if I keep putting this off?
• A year from now, will I regret not acting today?

These questions often shift the focus from fear to long-term wellbeing. As psychologists note, facing the fear usually leads to decisions that better align with your values.

On International Men's Day, we shift our focus on men's health and why is it important to talk about it. Time and again experts, doctors, and studies have shared how men generally visit GPs less than women. As per the NIH, US, the consultation rate is 32% lower in men than women. The difference is often attributed to a combination of women being more willing to admit sickness and seek help, while cultural factors and barriers for men keep them away from seeking help. However, not anymore, because both sexes require help when they need, especially when it is about their health.

Also Read: The Kessler Twins Die By Assisted Suicide in Germany; How It Differs From Euthanasia

As per a 2024 study published in the Journal of Clinical Investigation, about 5.7 million men could be living with an autoimmune disease that they do not even know about. The disease in men are often overlooked, all thanks to the social barriers.

Sex chromosomes play a key role in predisposing men or women to an autoimmune disease. Females have XX chromosomes, while male have XY chromosome and each chromosome carries gene sequence, which means specific pieces of DNA. Since X chromosome carries a bunch of gene related immunity,, having two of them could explain why women often have a higher rate of autoimmune diseases.

However, men are less likely to book time with their doctors, which could impact the discrepancies between sexes. They could thus often be undiagnosed or could flag their symptoms only when the disease has progressed.

Four Autoimmune Diseases Men Should Be Aware Of

Psoriasis

This is an inflammatory skin condition which affects both men and women. However, studies including the one published in 2023 in the International Journal of Women's Dermatology have suggested that men could develop this condition near their genitals and butt than women.

Also Read: Delhiites, Skip Your Morning Walk, You May Be Inhaling 3x Toxic Air Than Usual, According To Doctor

Ankylosing Spondylitis or AS

As happens due to the inflammation of the spine's joints and ligaments and could cause back pain and stiffness. While the condition is rare in itself, it could affect men more than women, that too at a younger age, usually below 40. A South Korean study from 2018, published in Scientific Reports, AS was 3.6 times more prevalent in men than women.

Type 1 Diabetes

The 2018 report by the Centers for Disease Control and Prevention, (CDC), US, provides data that type 1 diabetes may be slightly more in common in men than women. Though, other studies have been a mixed bag. Unlike type 2 diabetes, type 1 is an autoimmune disease, which means, here immune system attacks are specialized. What men should know is that both types of diabetes could up their risk of erectile dysfunction (ED) due to persistently high blood sugar, which could harm their nerves and blood vessels.

A 2016 study published in the International Journal of Impotence Research found that nearly 60% of 151 men being treated for type 1 diabetes had mild ED.

Inflammatory Bowel Disease (IBD)

The most common forms are Crohn's disease and ulcerative colitis, that take hold of digestive system. Chronic inflammation in the gut spikes the risk of colorectal cancer, which is one of the leading cause of death in men between 20 to 49 of ages. In fact, a 2023 study published in the journal Cancers noted that men with IBD faced a higher risk of developing colorectal cancer than women with IBD.