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.”

Summer can be difficult for the eyes, often in ways people do not immediately notice. Most of the attention during this season goes to drinking enough water, avoiding heat, and protecting the skin. Eye care usually comes much later, often only after discomfort begins. Long hours in the sun, dry surroundings, heat, and outdoor exposure can all leave the eyes feeling uneasy, especially over repeated days.

“During the summer season, we commonly see an increase in patients presenting with ocular surface discomfort, including dryness, itching, redness, burning sensation, and watering. Prolonged exposure to heat, ultraviolet radiation, dust, and air-conditioned environments can disturb the normal tear film and aggravate underlying allergic or dry eye conditions. In some cases, repeated eye rubbing and poor hygiene may also increase the risk of secondary irritation or infection. Timely preventive care and early attention to persistent symptoms are important to avoid worsening of these seasonal eye concerns,” says Dr Niteen Dedhia, Medical Director, Ojas Maxivision Super Specialty Eye Hospitals.

When heat and dehydration begin to show in your eyes

A common experience during summer is that the eyes simply do not feel as comfortable as they usually do. There may be a slight burning sensation, or the eyes may feel tired much earlier in the day, especially after being outdoors or spending hours in cooled indoor spaces. With the body losing fluids more quickly in hot weather, the eyes can also feel the effects. Many people do not immediately connect this discomfort to dehydration, but it plays a bigger role than expected. Added screen time indoors only makes this more noticeable.

Dust, sweat, and allergies adding to irritation

During summer, the eyes are exposed to many small everyday irritants. Dust on the roads, dry wind, pollution, and even sweat can all add to the discomfort. In some people, this shows up as itching, mild redness, or watering that keeps returning. Rubbing the eyes may feel like the easiest response, but it often makes the irritation worse. If this continues for days, even a minor problem can start feeling quite troublesome.

Sunlight and its hidden impact on eye comfort

Spending time in strong sunlight can be more exhausting for the eyes than most people realise. It is not just the brightness — by the end of the day, the eyes may feel heavy, watery, or unusually sensitive to light. Many people wear sunglasses, but not every pair is suitable for eye protection. Dark lenses may reduce glare, but that does not always mean they are blocking harmful rays. This is one reason discomfort can continue even when someone feels they have protected their eyes properly.

Small habits that make a noticeable difference

Managing summer eye discomfort does not require anything complicated. Staying well hydrated throughout the day helps more than most people expect. Using good-quality sunglasses, limiting time in the harsh afternoon sun, and simply rinsing the eyes after coming back from outside can ease a lot of irritation. Clean habits also matter in day-to-day care. Using your own towel, avoiding frequent hand contact with the eyes, and stepping away from screens occasionally can all help reduce strain and irritation.

Most people treat heartburn the way they treat a bad day: they reach for an antacid and move on. But for some patients, that familiar burning sensation is not just a digestive nuisance. It can be an early sign of something far more serious. A type of cancer called gastroesophageal junction (GEJ) adenocarcinoma develops quietly at the point where the food pipe meets the stomach, and it is frequently mistaken for routine acidity—until it is not.

Dr Ankit Jain, Senior Consultant, Medical Oncology, at Indraprastha Apollo Hospitals, in an interaction with Health and Me, spoke about the difference between cancer and heartburn symptoms.

What Is the Gastroesophageal Junction, and Why Does It Matter?

The gastroesophageal junction is simply the meeting point between the oesophagus and the stomach. When stomach acid repeatedly irritates this area over months or years, the lining can begin to change at a cellular level. This change, known as Barrett’s oesophagus, is a precancerous condition that often develops silently in people with chronic acid reflux. If left undetected, it can progress to GEJ adenocarcinoma. The tricky part is that this cancer does not behave exactly like oesophageal cancer or stomach cancer. It sits between the two, and that makes both diagnosis and treatment more nuanced.

Signs That Go Beyond Ordinary Heartburn

Heartburn is common across India, yet certain symptoms should not be brushed aside as routine acidity. If any of the following are present, a doctor’s visit should not be delayed:

1. Difficulty swallowing that starts with solid foods and gradually worsens
2. Unintended weight loss with no clear explanation
3. Chest or upper abdominal pain that does not improve with antacids
4. Unusual fatigue or anaemia, especially without another known cause
5. Blood in vomit or black, tarry stools

These are not panic triggers; they are signals worth investigating promptly.

The Case for Timely Screening

For patients over 40 with long-standing reflux, obesity, a smoking history, or a family history of upper digestive cancers, a baseline endoscopy is a reasonable and potentially life-saving step. GEJ adenocarcinoma caught early is far more treatable than the same cancer found at an advanced stage. The window for early detection exists, but it requires action before symptoms become severe. Persistent reflux deserves more than a repeat prescription. Sometimes, it deserves a closer look.

India is taking significant steps to enhance its vaccination strategy, with a special focus on adults, particularly those aged 55 and above, said Dr. N K Arora, Member of the National Technical Advisory Group on Immunisation in India (NTAGI), as part of the World Immunization Week.

NTAGI is the highest advisory body on immunization in the country, which consists of independent experts who provide recommendations on vaccines after reviewing data on disease burden, efficacy, and cost-effectiveness of vaccines.

In an exclusive interaction with HealthandMe, Dr. Arora shared that the country “is in the process of establishing priority pathogens and vaccines aimed at the adult population”.

This initiative will target those above the age of 55 or 60 to tackle infections that are particularly serious in older individuals, especially those living with chronic conditions like diabetes, hypertension, and cancer.

“The process has started. This year, we will be moving in that direction,” said Dr. Arora.

HPV Vaccination: A Milestone in Preventing Cervical Cancer

The expert lauded the introduction of the HPV vaccine for young girls. Dr. Arora highlighted the critical importance of this initiative, given India’s status as the country with the highest number of cervical cancer cases globally.

"Cervical cancer is preventable by the HPV vaccine, and we are now in the fortunate position of having a domestically manufactured vaccine," he explained.

The first round of vaccinations has already commenced, and Dr. Arora urged the media and public to dispel any misinformation surrounding the vaccine to ensure its success.

An Indigenous Dengue Vaccine

Further, the vaccine expert highlighted the potential introduction of an indigenous dengue vaccine, currently undergoing trials.

“The trials will take at least two and a half years, which means by the end of 28, we will have the results,” Dr. Arora said.

He emphasized the severity of dengue when it turns from a mild illness into a severe one, particularly among young adults.

The dengue vaccine, being developed indigenously, is expected to play a crucial role in protecting the 10-20 age group, who are most susceptible to severe dengue cases.

“We are waiting for the results of the trials, and once the vaccine is recommended by the NTAGI, the system will be ready to adopt it,” said Dr. Arora.

Also read: World Immunization Week: Vaccines Are Like Insurance, They’re Safe—Take Them, Says Dr NK Arora | Exclusive

India In The Forefront of Vaccine R&D

Dr. Arora stated that India, known as the pharmacy of the world, is playing a significant role in the global vaccine landscape.

“One feels very proud to be an Indian as every vaccine administered in India is made in India,” he said, noting that India also "provides two-thirds of the global vaccine supply".

This achievement positions India as a global leader in vaccine research and development, contributing substantially to global health initiatives.

"These initiatives are vital for the future of public health in India," Dr. Arora said.