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.”

Preventive healthcare through early screening, healthier lifestyles and greater public awareness is crucial to reducing the burden of both communicable and chronic diseases, doctors said ahead of National Doctors' Day.

National Doctors' Day is observed in India on July 1 to honor the contributions of medical professionals.

Shift Focus On Prevention

Speaking at an event organized by the Illness to Wellness Foundation, Rajesh Bhushan, former Secretary, Ministry of Health and Family Welfare, said India has made significant strides in expanding access to healthcare and strengthening its treatment infrastructure.

"The next phase of our healthcare journey must focus equally on prevention," Bhushan said.

He stressed that preventive healthcare should become a national priority, supported by regular screening, early diagnosis, healthier lifestyles and greater public awareness.

"Preventive healthcare is not only a public health priority but also an economic imperative for building a healthier and more productive nation," he added.

India Faces A Double 9-0

Prof. (Dr.) Nirmal Kumar Ganguly, former Director General of the Indian Council of Medical Research (ICMR), said India is battling both infectious diseases and a rapidly growing burden of lifestyle-related illnesses.

"One of the biggest health challenges India faces today is the growing burden of obesity, which is the root cause of many major non-communicable diseases. Preventive healthcare is the most effective way to address both communicable and non-communicable diseases."

India continues to report a high burden of communicable diseases such as tuberculosis, malaria, dengue, cholera, typhoid, HIV/AIDS, hepatitis B and hepatitis C, which together account for about 27.5% of the country's disease burden.

At the same time, non-communicable diseases—including obesity, diabetes, hypertension and cancer—are rising rapidly. Around 60% of all deaths in India are caused by NCDs, with nearly 70% of their risk factors linked to unhealthy lifestyles.

Prevention Can Improve Quality Of Life

Prof. (Dr.) G. C. Khilnani, Chairman, PSRI Institute of Pulmonary, Critical Care & Sleep Medicine, said preventive healthcare should become part of everyday life through regular health check-ups, balanced nutrition, physical activity, vaccination, good hygiene and timely medical consultation.

Dr. Yash Gulati, Padma Shri awardee and Senior Consultant Orthopaedic and Joint Replacement Surgeon at Apollo Hospitals, New Delhi encouraged people to treat preventive healthcare as a lifelong commitment rather than an occasional health check-up.

"Every step taken towards prevention today reduces the burden of disease tomorrow."

How To Prevent Diseases

Doctors said adopting a prevention-first approach can significantly reduce the risk of both communicable and chronic diseases. They recommended:

• Going for regular health screenings to detect diseases early.
• Exercising regularly, including walking, yoga or other physical activities.
• Eating a balanced diet rich in fruits, vegetables, whole grains and fiber.
• Maintaining a healthy weight to reduce the risk of obesity, diabetes and heart disease.
• Getting adequate sleep and manage stress through meditation or relaxation techniques.
• Staying up to date with vaccinations to prevent infectious diseases.
• Maintaining good hygiene, including frequent handwashing and access to safe drinking water.
• Seeking timely medical advice instead of waiting for symptoms to worsen.

Aarogya Setu started as a contact-tracing and tracking app during the COVID-19 pandemic. But it underwent a significant transformation since its initial launch. Now, years after its launch, the Centre has launched Aarogya Setu 2.0.

Aarogya Setu 2.0 Aims To Solve Everyday Healthcare Problems

Instead of focusing only on infectious diseases, Aarogya Setu 2.0 now acts as a comprehensive healthcare app that provides a range of healthcare services. Its features are designed to change the way you obtain medical services in hospitals and other healthcare facilities.

It can help users store, retrieve, and manage their medical records, access various services, and simplify everyday healthcare tasks. Apart from data and records storage, the app can help users locate the nearest hospitals, manage their prescriptions, and track their insurance coverage seamlessly. The revamped platform is designed to address common challenges patients face while navigating India's healthcare system.

Here's a closer look:

Finding Closest Hospitals

One of the most useful features Aarogya Setu 2.0 provides is access to the locations of the closest hospitals and healthcare facilities. In times of emergencies, this feature could prove to be lifesaving as it could save valuable time when immediate medical attention is needed.

The app has also enabled searching for PM-JAY empanelled hospitals. This feature is integrated with Pradhan Mantri Jan Arogya Yojana, allowing users to search for empanelled hospitals offering cashless treatment. Users can easily find authorized hospitals and access free or subsidized care.

Read more: Ebola Outbreak Spreads To Fourth Province In DR Congo As Cases Rise To 1,274

Retrieving Medical History During Doctor Visits

Patients often struggle to recall their medical history, including details like previous illnesses, surgeries, allergies, medications, or vaccinations during a consultation. It often hinders the diagnostic process as the doctor does not have a comprehensive picture of the patient’s health.

The platform provides users with easy access to their health records, making it simpler to share relevant information with their healthcare providers whenever needed.

Read more: Leptospirosis In Monsoon: Expert Explains Why Early Detection & Prevention Is A Must

Avoiding Repetitive Diagnostic Tests

Patients are often compelled to undergo the same diagnostic tests and scans simply because their previous reports get misplaced. This not only increases healthcare costs but also causes inconvenience. Easy access to past laboratory reports can help patients avoid unnecessary repeat tests.

Simplifying Insurance And Cashless Treatment

Medical insurance paperwork often involves submitting hospital documents, prescriptions, diagnostic reports, and discharge summaries. Since many of these records are scattered across different hospitals or stored as paper documents, patients may spend considerable time collecting them.

With digital health records stored in one place, users may find it easier to retrieve documents required for insurance claims or cashless hospitalization, potentially reducing paperwork and delays.

Making Healthcare More Portable

Aarogya Setu 2.0 allows users to securely store and access digital health records through integration with India's digital health ecosystem. Having previous prescriptions and reports readily available can help both patients and healthcare providers make informed decisions.

This is particularly useful for individuals who relocate frequently and suffer from chronic conditions such as diabetes, hypertension, asthma, thyroid disorders, or kidney disease that need long-term monitoring.

Changing cities usually means changing doctors and hospitals. In the absence of a complete medical history, one is more likely to incur additional healthcare costs of retaking the tests.

As heatwaves have become more frequent and intense across the globe, health experts are increasingly warning that soaring temperatures affect far more than physical health. While dehydration, heat exhaustion, and heatstroke are common physiological effects of heatwaves, extreme heat can also take a significant toll on mental wellbeing.

Mental Health Toll Of Extreme Heat

HealthandMe spoke to Dr. Samant Darshi, Consultant - Psychiatrist & Neuromodulation Expert, Psymate Healthcare, Noida, about the psychological impact of extreme heat.

In hot weather, the human body constantly works to maintain a stable internal temperature. During periods of extreme heat, this process becomes increasingly challenging, placing considerable strain on both the body and brain.

Dr Darshi explains, “The high temperatures during heat waves can have a strong influence on not only physical but also the psychological state of people. The hot weather causes irritation, nervousness, stress, and frustration. Sleep disturbance associated with the hot weather only complicates the process of keeping a good mood.”

Living in higher temperatures is slowly becoming the new norm in several countries. With climate change driving longer and more intense heat events, understanding the psychological impact of extreme heat has become more important than ever.

Extreme Heat Can Worsen Serious Mental Health Issues

Additionally, research has shown that prolonged exposure to heat can worsen stress, anxiety, irritability, and even increase the risk of severe mental health crises. Moreover, people's ability to think logically is affected by heat; memory, attention, and overall productivity decrease in extreme temperatures.

Dr Darshi says, “People with some pre-existing mental health conditions (depression, anxiety disorders, schizophrenia, etc.) can suffer from worsening their symptoms during prolonged heatwaves. The side effects of some medications that are used for the treatment of mental illnesses include the disturbance of the processes of thermoregulation in the organism.”

High temperatures can also disrupt sleep, hamper hormone levels, and affect neurotransmitters like serotonin and dopamine, which play a key role in regulating mood. Sleep deprivation, a common consequence of hot nights, can further intensify emotional distress, making people feel more anxious, irritable, or overwhelmed.

Heatwaves Drives Isolation

As temperatures soar, people generally avoid stepping out, becoming increasingly secluded. Lack of social interactions triggers the brain’s primal ‘survival threat’ alarm, which can lead to excessive stress, poor emotional regulation, and increased risk of anxiety and depression.

It especially affects older people and other vulnerable groups. Social isolation can cause psychological problems in terms of loneliness and depression. In extreme cases, prolonged exposure to heat causes aggression, self-harm, and other mental health crises.

How To Protect Your Mental Wellbeing During A Heatwave

While one has little to no control over the weather, certain measures can help reduce the mental strain caused by extreme heat:

• Staying hydrated throughout the day.

• Keeping indoor spaces cool using fans, curtains, or air conditioning where possible.

• Avoiding strenuous activities during the hottest hours.

• Prioritizing good sleep hygiene and keep bedrooms as cool as possible.

• Checking in regularly with family members, friends, and neighbours, particularly those living alone.

• Seek professional support if feelings of anxiety, depression, or distress become overwhelming.