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.”

Multiple Sclerosis is a chronic and progressive neurological condition affecting an estimated 1.5–2 lakh people in India, and remains one of the country's most overlooked invisible disabilities.

Many of its symptoms, including fatigue, cognitive impairment, chronic pain, visual disturbances, and bladder dysfunction, are often not outwardly visible, contributing to delayed diagnosis, barriers to disability recognition, insurance challenges, and difficulties in accessing long-term care and support.

Declaration at National Policy Dialogue

In a significant step towards strengthening disability-inclusive healthcare and social protection in India, policymakers, neurologists, disability rights advocates, insurance stakeholders, and persons living with Multiple Sclerosis (MS) today endorsed a landmark 10-point Declaration on Invisible Disabilities and Gender at the National Policy Dialogue organized on the occasion of World Multiple Sclerosis Day 2026.

The National Policy Dialogue was held under the theme, "Shaping Policy. Advancing Access. Improving Lives."

"India has made significant progress in recognizing the rights of persons with disabilities, and conversations such as these are essential to ensuring that our laws, policies, and institutions continue to evolve in ways that better reflect the lived experiences of people affected by conditions such as MS," said Menaka Guruswamy, Member of Parliament, Rajya Sabha.

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Barriers to Care and Support

Experts from the Multiple Sclerosis Society of India (MSSI) stated that for people living with Multiple Sclerosis, the challenges often extend far beyond the disease itself.

Delayed access to insurance, high out-of-pocket costs, limited awareness of available entitlements, and the absence of comprehensive patient data continue to create barriers to timely care.

Thus, they expect the Declaration to catalyze stronger insurance inclusion, better access to support systems, and a more robust national understanding of the true burden of MS in India.

The 10-Point Declaration

The Declaration on Invisible Disabilities and Gender outlines a roadmap to strengthen implementation of the Rights of Persons with Disabilities (RPwD) Act, 2016, and improve the inclusion of invisible neurological conditions within India's healthcare, disability, and welfare systems.

Key recommendations include:

• Recognition guidelines for invisible and episodic disabilities under the RPwD Act.
• Flexible disability certification for people with fluctuating conditions.
• Inclusion of MS and other chronic neurological conditions within National Health Mission care pathways.
• Expansion of the Indian MS Registry Network (IMSRN) into a broader national invisible disability registry.
• Affordable access to disease-modifying therapies and long-term neurological care.
• Expanded tele-neurology services across India.
• Gender-sensitive diagnosis and treatment pathways.
• Stronger digital monitoring of disability rights implementation.
• Inclusive workplace policies for invisible disabilities.
• A National Mission on Invisible Disabilities.

Call for Stronger Policy and Healthcare Support

The declaration reflects a growing consensus among stakeholders that India's healthcare and social protection systems must evolve to better address invisible conditions that significantly affect an individual's functional ability, quality of life, and socioeconomic participation.

"Multiple Sclerosis is a complex, unpredictable, and lifelong neurological condition that requires early diagnosis, timely intervention, and sustained access to advanced therapies. While often simplified for patient understanding, the clinical reality is far more challenging and demands a nuanced approach to treatment and long-term care," said Dr. R.K. Dhamija, Distinguished Neurologist, Director, IHBAS, and Chair, National Task Force, NITI Aayog Brain Health Initiative.

"Investing in neurological care is not merely a healthcare expenditure; it is an economic imperative that helps prevent irreversible disability, reduces long-term care costs, and enables people to remain active and productive," Dr. Dhamija added.

For many people, tobacco does not begin as an addiction; it starts as a habit woven into ordinary moments of daily life. A cigarette shared with friends, a smoke break during a stressful day, or chewing tobacco after meals can soon become a routine that feels difficult to avoid.

While these habits may seem harmless in the beginning, tobacco slowly affects nearly every organ in the body, often giving subtle warning signs long before a serious disease is diagnosed.

When The Body Starts Giving Signals

These effects rarely manifest suddenly and usually come after years of prolonged use. It is this slow progress that leads most tobacco users to believe that "I am fine." But there are unmistakable signs of some diseases brought about by the use of tobacco that ought not to be dismissed:

• The Persistent Cough: A cough that has lasted for more than two to three weeks, becomes progressively worse each day, and is associated with a wheeze.

• Unexplained Fatigue: A person feeling breathless or unnaturally tired after having climbed a couple of stairs or walking a short distance can easily attribute this to general fatigue.

• Weight Fluctuations: The unexplained drop in weight can also be caused by some diseases that tobacco is likely to inflict upon the body.

Changes Inside the Mouth

Oral cancer caused by tobacco often appears initially in the form of persistent mouth ulcers, white or red patches inside the mouth, and jaw stiffness. These painful and irritating conditions can be so subtle that a person is not concerned by them.

Persistent changes like the change in your voice pitch or constant throat irritation are not to be taken lightly, either; they could be signs of deeper problems arising. Seeking medical help when it is still in the superficial stages will not only decrease your chances of being treated with aggressive measures but may actually result in an easier way to fight the condition.

Beyond Lungs: Other Effects of the Illness

Tobacco affects much more than just the lungs, and many symptoms associated with chronic conditions often go unnoticed.

• Cardiovascular Strain: Dizziness and chest heaviness are indications of heart problems caused by the presence of toxins in the body.

• Physical Discomfort: Headaches or leg edema may sometimes be seen as manifestations of blood vessel disorders.

The Untapped Power of Prevention

The most important remedy at our disposal is not a complicated surgery but an accurate identification of such conditions at their superficial stage, allowing for minimal and non-invasive treatments.

The human body is an incredibly powerful machine at healing, and the instant the consumption of tobacco ceases, a chain of events kicks off that increases circulation and improves lung function.

If you ever find yourself dealing with a persistent cough, mouth ulcer, or undue fatigue, it is advisable to visit a specialist at the earliest to prevent future complications.

(By Dr Yash Mathur, Senior Head, Neck, Oral, and Robotic Onco-Surgeon at HCG Cancer Hospital, Borivali, Mumbai)

A growing body of global research is beginning to point in one direction: our eyes are under strain like never before. As per the report published on PubMed, myopia is projected to rise significantly worldwide, increasing from about 27% of the global population in 2010 to nearly 52% by 2050, highlighting its emergence as a major public health concern.

Although genetics has long contributed, there appears to be a significant environmental factor associated with how fast this shift has occurred.

Screens have become an integrated part of everyday lives, from the time of waking up to work on digital screens or scroll through phones late into the night. Digital devices are no longer optional but a constant priority.

Work, education, and entertainment are all now done on screens with little or no interruption. The growing generation of gadgets has its own advantages, but its impact has significantly contributed to the alarming rise in cases of myopia.

The Science Behind the Surge: Why Our Eyes Are Struggling

There are three major significant ways prolonged screen time could affect vision:

• Near Vision strain - Prolonged near-vision focus places a constant strain on the eye muscles, causing them to remain contracted. This will eventually lead to elongation of the eyeball and myopia.

• Reduced Blinking due to dry eyes - Screen use decreases the rate of blinking, which causes the eyes to dry out, leading to irritation and instability.

• Lack of Sunlight - Less time outdoors reduces the opportunity to receive sunlight. Sunlight exposure is especially important in children for proper vision development.

From Temporary Strain to Long-Term Damage

Mild discomfort, such as dryness, headaches, and blurred vision, can lead to more chronic issues. Digital eye strain is common among adults and children alike. However, the long-term outcome is the main concern.

Progressive myopia increases the chances of developing serious eye diseases like glaucoma, retinal detachment, and macular degeneration, and having to wear stronger prescription glasses. These aren't just short-term inconveniences; they can create lifelong risks that severely affect the quality of life.

The Post-Pandemic Effect: A Generation at Risk

The days when children spent their time flying kites, playing marbles, feeling the wind on their faces, and returning home with dust-covered hands have gradually faded into memory. The COVID-19 pandemic accelerated an already existing trend.

The screen time increased as many schools transitioned to online education and remote workers increased due to the pandemic. Above all, children experienced a sudden reduction in outdoor activity with increased exposure to digital devices.

The phase indicated a noticeable drop in the vision of the people. This period has often been referred to as a phase of “quarantine myopia,” where many young individuals reported a noticeable decline in vision.

As individuals return to normalcy, the habits that were established are continuing, and concern is being raised about a generation having poorer visual health.

Prevention Over Cure: Rethinking Visual Hygiene

Consistent habits are needed to address this issue:

• 20-20-20 rule: After every 20 minutes of looking at a digital device with stress, try to look at something far away (at least 20 feet away) for approximately 20 seconds to relax your eye muscles and reduce the stress placed on your eyes.

• Limit recreational screen time: Reducing the amount of time spent using screens will help reduce the likelihood of developing eye strain and progression of myopia, especially in children.

• Proper viewing distance and posture: Keeping screens at approximately one arm's length will help to minimise the amount of stress placed on your eyes and body.

• Encourage Outdoor Activity: Children between the ages of 6 and 16 years should be encouraged to engage in outdoor activities more frequently and not replace books with tablets or iPads.

• Mandatory Vision Screening: Vision screening and eye check-ups prior to school admissions should be made mandatory by the government, as early detection of myopia can help prevent further complications.

A Call for Collective Responsibility

The increase in use of screens is not an isolated event; it is part of the larger trend affecting how we live and work. To address this issue, we need to develop awareness among individuals, families, schools, and workplaces about proper screen use. A balanced daily routine, guided by parents, plays a crucial role in maintaining healthy vision in children.

Collective responsibility among teachers, parents, and government authorities is essential to prevent visual complications, as children represent our future generations. Greater public awareness around digital eye strain and eye health is also necessary, as it often serves as a precursor to multiple health complications.

Eye health must be seen as an essential part of overall well-being. The current trend may still be a developing issue, but it requires urgent attention. Acting early, with informed choices and preventive care, can ensure that technological progress does not come at the cost of long-term vision health.