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.”

World Asthma Day is observed globally every year on the first Tuesday of May to raise awareness about the most common chronic non-communicable disease in the world.

The condition affects over 260 million people. It is also responsible for over 450,000 deaths each year worldwide. However, most of these deaths are preventable.

As per the Global Burden of Disease Report (GBDR) 2019, India has the highest and growing burden of asthma in the world in terms of deaths and disability-adjusted life years, and over 3.4 crores of people in India have asthma, despite accounting for only 13 per cent of the world's asthma population, and 42 per cent of global asthma mortality.

World Asthma Day: History

World Asthma Day began in 1998 during the first World Asthma Meeting in Barcelona, Spain.

Coordinated by the Global Initiative for Asthma (GINA), with over 35 countries initially participating, it has grown into a global awareness event held annually on the first Tuesday of May.

GINA is a World Health Organization collaborative organization founded in 1993.

World Asthma Day: Theme

This year, the theme is: “Access to anti-inflammatory inhalers for everyone with asthma – still an urgent need”.

The theme reinforces that every person with asthma, including most pre-school children with asthma, should receive inhaled corticosteroids.

These inhalers reduce the person’s risk of asthma attacks and preventable asthma deaths.

GINA continues to emphasize the need to ensure that all people with asthma can access inhaled medications that are essential for controlling the underlying disease and treating attacks.

Preferably, the inhaler should be a combination 2‑in‑1 inhaler containing both an inhaled corticosteroid and a quick-acting reliever. Together, they treat the asthma symptoms, prevent asthma attacks, and reduce hospital admissions.

Also read: Exposure To Traffic Emissions Before Birth May Delay Speech Development In Children: Study

What is Asthma? Signs and Symptoms

Asthma attacks are mainly caused by the obstruction of the air passages in the lungs, which reduces the ability of the person to inhale life-sustaining oxygen into the body.

The airway obstruction is caused by spasm and tightening of the airway muscles, and inflammation, which causes both swelling of the walls of the air passages and mucus or phlegm blocking the airways.

Common symptoms include

• shortness of breath,
• wheezing (a whistling sound on exhaling),
• chest tightness or pain,
• coughing—often worse at night, early morning, or during triggers like colds, exercise, allergens, or smoke.

How To Treat Asthma

According to GINA, inhaled corticosteroids are essential for treating and controlling asthma.

The short-acting bronchodilator relievers (salbutamol, albuterol, terbutaline, SABAs) only relieve the spasm and tightening of the muscles in the air passages, but inhaled corticosteroid-containing medications prevent asthma attacks by treating the underlying inflammation that causes asthma.

The inhaled corticosteroid-containing medication should be prescribed in addition to, or in combination with, reliever medication, to prevent the continuing avoidable morbidity and mortality from asthma.

In low-middle-income countries, lack of availability or high cost of inhaled medicines, especially inhaled corticosteroid-containing inhalers, are major contributors to the fact that many attacks and 96 per cent of global asthma deaths occur in these countries.

How To Prevent Asthma

Asthma can be prevented by:

• Avoiding exposure to environmental triggers such as air pollution, cold air, fragrances, etc.
• Avoiding contact with allergens.
• Avoiding smoke from cigarettes, candles, incense, and fireworks. Staying away from sick people (cold or the flu)
• Keeping the surroundings dust-free
• Taking vaccinations on time to prevent pneumonia, diphtheria, tetanus, the zoster vaccine, and whooping cough
• Adhering to asthma medications.

If you speak to doctors today, one pattern is becoming very common—women in their 30s are often being diagnosed with both thyroid problems and PCOS together. Earlier, these conditions were seen separately. Now, they frequently show up side by side.

At first, this can feel confusing. The thyroid is a gland in your neck that controls how your body uses energy, while PCOS affects the ovaries, periods, and hormones. They seem unrelated—but inside the body, they are more connected than we think.

Hormonal Imbalance

A big reason behind this overlap is hormonal imbalance. PCOS already disturbs the balance of female hormones and can lead to irregular periods. If the thyroid is underactive, it slows the body’s metabolism and also interferes with hormone levels. When both happen together, symptoms tend to become more noticeable and sometimes more difficult to manage.

Insulin resistance

Another important link is insulin resistance. Many women with PCOS have it, even if they are not diabetic. This means the body struggles to use sugar properly, leading to higher insulin levels. Over time, this doesn’t just affect weight—it also impacts hormones and can indirectly influence thyroid function. That’s why the two conditions often overlap.

Lifestyle

Lifestyle plays a bigger role than we usually admit. In your 30s, life tends to get busy—work pressure, family responsibilities, irregular sleep, and constant stress. Meals are often rushed or skipped, exercise takes a backseat, and screen time goes up. All of this affects the body’s internal balance. Stress hormones, in particular, can disrupt both thyroid function and reproductive hormones.

Weight Gain

Weight gain is another common thread. Many women notice gradual weight gain that doesn’t seem to respond easily to diet or exercise. Thyroid problems can slow metabolism, while PCOS can increase fat storage, especially around the abdomen. This, in turn, worsens insulin resistance—creating a loop that’s hard to break without proper guidance.

It’s also worth noting that we are simply diagnosing more cases now. Women today are more aware of their health and are more likely to seek help for symptoms like irregular periods, fatigue, hair fall, or acne. Earlier, these were often ignored or brushed off as “normal.”

When both thyroid issues and PCOS are present, you may notice:

• Periods are becoming irregular or stopping altogether
• Constant tiredness, even after rest
• Hair thinning or excessive hair fall
• Acne that doesn’t settle easily
• Unexplained weight gain
• Difficulty getting pregnant

How To Manage

The encouraging part is that both conditions can be managed well. The approach is not just about medicines—it’s about small, consistent lifestyle changes. Eating balanced meals, staying physically active, managing stress, and getting proper sleep can make a real difference over time.

The key is to listen to your body. If something feels off and continues for months, don’t ignore it. Getting checked early can save a lot of trouble later.

In the end, this rise in combined thyroid and PCOS cases isn’t random. It reflects how modern lifestyles are affecting women’s health. The good news is—with the right care and awareness, it’s absolutely possible to manage both and stay healthy.

The concept of self-medication in the case of a trivial ailment such as a headache or a small cut is generally considered responsible self-care. Nevertheless, it becomes a matter of public health concern when the process goes through two particular stages. The first of these stages is the “masking of chronic disease." When one uses over-the-counter (OTC) drugs to cover up symptoms of fatigue, acidity, or thirst, he or she ends up masking the symptoms of underlying chronic diseases, which could be type 2 diabetes or high blood pressure, for instance. By the time these symptoms are diagnosed, the condition may have caused irreparable damage to organs. Another health problem created due to self-medication is antimicrobial resistance, which poses a danger not only to the individual but also to society as a whole.

What are the risks of making a self-diagnosis?

Dr Vimal Pahuja, MD, Associate Director, Internal Medicine & Metabolic Physician, Diabetes & Weight Management Clinic, Dr LH Hiranandani Hospital, Powai, Mumbai, said, “The most serious complications include those that have no immediate effects and do not trigger pain signals. DILI is a growing concern in India and is a consequence of the persistent abuse of painkillers (NSAIDs) or even some of the herbal supplements available in the market. In the same way, ‘kidney compromise’ results from prolonged consumption of analgesics. Looking at things from the viewpoint of the endocrine system, the frequent consumption of over-the-counter steroids, which are also included in some ‘miracle’ skin creams and supplements, can affect hormones and lead to the development of secondary diabetes.”

Does it help to ‘Google’ symptoms?

Internet searches usually generate confirmation bias, where patients only seek answers that align with what they want to hear. Health-related social media sites and influencers tend to oversimplify medical issues by encouraging bio-hacking. This results in unsafe practices, such as people prescribing themselves advanced metabolic and hormonal treatments without being aware of the contraindications or the need for clinical testing.

Dr Kirti Sabnis, Infectious Diseases Specialist, Fortis Hospital, Mulund & Kalyan, Mumbai, said, “With the growing emphasis on early and accessible diagnosis, more individuals are becoming proactive about understanding their symptoms and lab reports. This has led to a noticeable rise in what clinicians often refer to as ‘Google diagnosis,' where patients arrive with self-researched conclusions based on online information or AI-enabled report analyses.”

Why is accurate diagnosis important?

The expert went on to say that interpreting symptoms and investigations is rarely straightforward. Fever, for instance, is merely a symptom and can stem from a wide range of causes, from infections to non-infectious conditions such as thyroid disorders. While digital tools and AI platforms can analyse reports and suggest possible conditions, they typically rely on common algorithm-based differentials. In some cases, this may lead to alarming or misleading possibilities such as tuberculosis or even cancer, when the underlying issue could be far less serious.

Accurate diagnosis requires more than data interpretation; it demands clinical expertise, physical examination, and years of medical experience to connect symptoms, history, and test results. Over-reliance on online searches can sometimes lead to unnecessary anxiety, delayed diagnosis, or even self-medication, which may complicate the condition further.

The importance of taking time to explain the reasoning behind prescribed medication is essential, especially when informing a patient that an antibiotic cannot cure their flu.