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.”

While salt is often blamed for high blood pressure, it is not the only factor contributing to those numbers. Many people carefully reduce salt intake yet continue to struggle with hypertension because several hidden causes often go unnoticed.

Understanding these triggers can help people take better control of their heart health before complications arise.

One major but overlooked reason is chronic stress. When the body stays under constant mental pressure, stress hormones like cortisol and adrenaline rise repeatedly. This causes blood vessels to tighten and the heart to work harder, gradually increasing blood pressure over time. Poor sleep also plays a significant role. People who sleep less than six hours regularly or suffer from conditions like sleep apnea may experience uncontrolled hypertension despite following a healthy diet.

Hormonal imbalance is another hidden culprit. Disorders of the thyroid or adrenal glands, as well as conditions like PCOS, can affect blood pressure regulation. In some individuals, high blood pressure may actually begin because of hormonal changes rather than lifestyle alone. This is why persistent hypertension should never be ignored or treated casually at home.

Certain medications can also cause a silent increase in blood pressure. Frequent use of painkillers, steroids, nasal decongestants, birth control pills, or even some herbal supplements may contribute to rising readings. Excessive caffeine, smoking, alcohol consumption, and a sedentary lifestyle further add to the risk.

Weight gain around the abdomen is particularly harmful because it increases resistance in blood vessels and affects how the body handles insulin. Similarly, unmanaged diabetes and high cholesterol damage arteries over time, making it harder for blood to flow normally.

Another commonly missed factor is dehydration. When the body lacks enough water, sodium concentration rises, forcing the heart to pump harder. Even low potassium intake from poor dietary habits can disturb the body’s blood pressure balance.

Why Regular Monitoring Is Important

High blood pressure is often called a “silent killer” because symptoms may not appear until serious complications develop.

Regular health check-ups, monitoring blood pressure at home, staying physically active, sleeping well, and identifying underlying medical conditions are equally important as reducing salt intake.

Managing hypertension requires looking at the complete picture, not just the salt shaker on the dining table.

In India, more than one in four people has hypertension, and cumulatively, over 90 per cent of adults with hypertension are either undiagnosed, untreated, or treated but still live with uncontrolled blood pressure. Experts say this growing burden needs urgent attention.

In an interview with HealthandMe on World Hypertension Day 2026, Professor Vivekanand Jha, Executive Director of The George Institute for Global Health, suggested that one practical solution may be as simple as switching to potassium-enriched low-sodium salt substitutes (LSSS).

Current estimates show that Indians consume between 8 and 11 grams of salt (equivalent to 3.2–4.4 grams of sodium) per day — nearly double the World Health Organization recommended limit of 5 grams of salt (2 grams of sodium).

Low-sodium salt substitutes are composed of approximately 70–75 per cent sodium chloride and 25–30 per cent potassium chloride. They reduce sodium intake while increasing potassium consumption, helping lower blood pressure and reduce cardiovascular risk.

In January 2025, the World Health Organization released guidelines recommending potassium-enriched salt substitutes to combat hypertension and related heart risks. The guidelines suggest replacing regular table salt, which is high in sodium, with potassium-enriched alternatives that may help reduce noncommunicable diseases such as cardiovascular disease and chronic kidney disease by lowering blood pressure.

Dr Jha was also part of a consensus statement released by experts in clinical medicine, public health, and nutrition, recommending potassium-enriched low-sodium salt substitutes as an effective intervention to reduce hypertension and cardiovascular disease in India.

Here are excerpts from the interview:

Q. Is asking people to simply switch to a healthier salt more realistic than expecting them to completely change their diets?

Dr Jha: Public health works best when solutions fit naturally into people’s daily lives. Asking families to completely change what they eat is extremely difficult because food habits are emotional, cultural, and built over generations. But asking them to switch the type of salt they use at home is a much simpler and more achievable step. The taste remains familiar, cooking habits do not change, and yet the health benefits can begin immediately.

In a country like India, where a large proportion of sodium intake comes from salt added during cooking, this becomes a very practical intervention. It is not about perfection — it is about finding solutions that ordinary families can realistically adopt and sustain. There are, of course, other dietary factors that also need attention, such as excessive sugar intake, processed foods, and poor fruit consumption.

Q. High blood pressure medicines are often prescribed quickly. Are doctors giving enough importance to simple dietary changes like switching to healthier salt, or is prevention still underestimated?

Dr Jha: The answer is a definite no.

Our healthcare system is designed around managing disease once it appears, rather than reducing people’s need to come to hospitals by preventing disease in the first place.

Also read: Can Hantavirus Spread Through Semen And Breast Milk? What Experts Say

In a busy clinic, physicians often have only a few minutes with each patient, making detailed dietary counselling difficult. At the same time, advice like “eat less salt” can feel abstract or impractical for many patients. There are also systemic incentives that prioritize medicines over preventive care.

We need much stronger integration of nutrition and prevention into routine medical practice. If we truly want to reduce the burden of hypertension and its complications — including cardiovascular disease, stroke, and chronic kidney disease — prevention cannot remain an afterthought.

Q. Low-sodium salt may not suit some people with kidney disease or those on certain medicines. How can these risks be managed without discouraging the wider population from benefiting?

Dr Jha: This is an important conversation and needs to be handled responsibly and transparently. There is a small group of patients — particularly some people with advanced kidney disease or those on specific medications — for whom excess potassium may not be appropriate.

However, for the vast majority of the population, including many people with early-stage kidney disease, low-sodium salt substitutes are safe and beneficial. We have repeatedly shown this through modelling studies.

The challenge is ensuring that a legitimate caution for one group does not unintentionally discourage everyone else. That is why clear labelling, better awareness among healthcare professionals, and honest public communication are essential. Public health decisions are often about balancing risks and benefits, and in this case, the potential population-level benefits are very significant, including for a large majority of patients with chronic kidney disease.

Read More: Heart Diseases, Mental Disorders And Cancer Among 62 Health Risks Linked To Alcohol Use: Study

Q. Emerging evidence suggests increasing potassium may be as important as reducing sodium. Does this change how India should approach hypertension prevention?

Dr Jha: This is a very important point and broadens the conversation in a meaningful way. As it turns out, many physicians are also unaware that potassium intake among Indians is substantially lower than recommended, and that increasing potassium intake can help lower blood pressure and improve cardiovascular health.

What makes low-sodium salt substitutes particularly valuable is that they address both issues together — they reduce sodium while increasing potassium through a product people already use every day. This dual benefit could make a meaningful difference at scale.

It does not replace the need for healthier diets overall, but it does provide a practical and scalable public health tool.

Climate change and rapid urbanization are changing mosquito habitats, and shifting dengue serotypes are reshaping the disease landscape in India. As a result, the country is now witnessing a transformation in how dengue spreads, who it affects, and how severe infections can become.

Once considered a seasonal monsoon illness, dengue is now increasingly becoming a year-round public health challenge, extending into hill states, semi-urban regions, and previously low-risk geographies.

In an exclusive interview with HealthandMe, Dr. Shikha Taneja Malik, Senior Scientific Affairs Manager, Drugs for Neglected Diseases initiative (DNDi), South Asia, discussed why India’s dengue numbers are likely being massively undercounted, how surveillance and diagnostic gaps are masking the real scale of the crisis, and why young adults are facing more severe infections due to changing serotypes.

Dr. Shikha also explained the urgent global push for affordable therapeutics and the challenges India still faces in developing an indigenous dengue vaccine despite its strong manufacturing capacity.

Here are the excerpts from the interview:

Q. Dengue was always called a monsoon disease. Is that label now dangerously misleading?

Dr. Shikha: Yes, I would argue that labels are not just outdated but risky, too. What we are seeing across India and across the region is a fundamental shift in the transmission pattern.

Dengue used to follow a fairly predictable seasonal curve — cases would spike between July and November, track the monsoon, and then recede. That curve is flattening. We are now seeing cases in February, March, and May — months that were previously considered safe. Delhi, Mumbai, Bengaluru — cities that used to have clear off-seasons for dengue — are reporting year-round transmission.

Warmer temperatures, altered rainfall patterns, unplanned urbanization, and poor sanitation have lengthened transmission seasons, making dengue a year-round systemic crisis. Models now predict year-round transmission in coastal regions, though monsoon months will retain the highest peak.

Also read: National Dengue Day 2026: India Reports 6,927 Cases And 10 Deaths In 2026

Q. Are serotype shifts driving changing dengue patterns, especially in young adults?

Dr. Shikha: Yes, India is witnessing active serotype shifts, and they directly explain rising severity, especially in young adults. Initial infection with one of the four dengue serotypes results in lifelong immunity to that specific serotype. Whereas, a secondary infection with a different serotype can trigger Antibody-Dependent Enhancement (ADE).

Young adults who were exposed to one serotype in childhood are now encountering a new dominant serotype, making them especially vulnerable to severe secondary infections.

Q. Is India undercounting dengue cases? Why do so many cases go unreported?

Dr. Shikha: The 2.89 lakh figure in 2023 is what our surveillance system captures, but it is almost certainly a fraction of the true burden. The Lancet has estimated that India accounts for around 33 per cent of the global dengue burden, and globally, we are looking at approximately 400 million infections every year. That puts India's real annual dengue burden potentially in the tens of millions — not hundreds of thousands.

Few studies have shown that the estimates of actual cases are approximately 282 times higher.

There are several reasons why cases go unreported, and they compound each other.

• A large proportion of infections are either asymptomatic or present as a generic fever — patients never seek formal care.
• Our surveillance system is passive and fragmented. Reporting is largely dependent on public health facilities.
• Confirmatory testing through NS1 antigen tests or PCR requires infrastructure that is not yet uniformly available at the primary health center level, particularly in rural and semi-urban areas.

Q. Are previously dengue-free regions in India now reporting cases due to climate change?

Dr. Shikha: Yes, the geographic spread is both significant and well-documented. Climate change is playing a major role in this shift. Rising temperatures, changing rainfall patterns, increasing humidity, and rapid unplanned urbanization are creating more favorable conditions for Aedes aegypti mosquitoes to survive and transmit the virus for longer periods each year.

Since the mid-1990s, dengue has rapidly spread to regions where it was historically non-existent, including Odisha, Arunachal Pradesh, and Mizoram. In the early 2000s, dengue was endemic only in a few southern and northern states; it has since spread to many states, including union territories.

Read More: Ebola Outbreak: Rare Bundibugyo Strain Confirmed In DR Congo And Uganda

The shift is particularly visible in hilly and cooler geographies such as Himachal Pradesh and Jammu & Kashmir. Climate modelling projects further expansion of Aedes albopictus into upper Himalayan regions, including Leh-Ladakh and Arunachal Pradesh, by 2050.

Q. What are the biggest challenges in indigenous dengue vaccine production in India?

Dr. Shikha: India has strong vaccine manufacturing capacity, but dengue remains scientifically complex. Existing vaccines have limitations and do not cover all vulnerable groups.

India’s first Phase 3 trial for an indigenous dengue vaccine, DengiAll, is underway across 18 states. The Butantan vaccine candidate, originally developed by NIH, has been licensed to Indian companies, including Panacea, SIIPL, and Indian Immunologicals, with the ICMR-Panacea candidate being the most advanced.

The recent DCGI approval of Qdenga is encouraging, but sustained financing and coordination between ICMR, DBT, and industry will be critical for developing a truly indigenous vaccine.