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.”

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.

Leptospirosis gained attention after its cases surged in Kerala recently. The infection has also been reported in Maharashtra, Gujarat, Tamil Nadu, and Karnataka. The bacterial infection typically spreads via contact with water or soil that has been contaminated by the urine of animals infected with leptospirosis, especially during floods.

As monsoons are right at our doors, know why it is important to detect and nab dangerous infections like leptospirosis early.

What Is Leptospirosis?

Leptospirosis is a potentially serious bacterial infection sometimes called the "rat fever" because it can cause symptoms similar to the typical symptoms of common viral infections, which may not be noticeable in the early stages. It is caused by the bacteria of the genus Leptospira that are excreted in the urine of infected animals, including rats, cattle, dogs, and pigs.

In the monsoon season, there is a risk of waterlogging and contaminated animal urine mixing with floodwater and soil. Infestation occurs through direct contact with contaminated water or mud on cuts or abrasions or on the mucous membranes of the mouth, nose, and eyes. Those involved in outdoor work, sanitation, farming, construction, or who are walking in flooded streets are especially at risk.

Combating Leptospirosis In Monsoon

Health and Me spoke to Dr. Sundar Krishnan, Senior Consultant - Internal Medicine, KIMS Hospital, Thane, about how to tackle leptospirosis this monsoon.

Dr. Krishnan says, “In the early stages, it may have flu-like symptoms, and that makes early recognition challenging. Symptoms are sudden onset of high fever, chills, very severe headache, muscle pain especially in the calves and lower back, fatigue, nausea, vomiting, and red eyes.”

The expert also said that occasionally, the patient may also have abdominal pain or diarrhea. He also says it can escalate quickly to jaundice, kidney failure, difficulty breathing, meningitis, internal bleeding, or multi-organ failure and can require immediate medical care.

Dr. Krishnan recommends several prevention tips to tackle leptospirosis in monsoon:

• Avoiding contact with contaminated water by staying out of flooded areas whenever possible.

• Wearing waterproof boots and gloves for extra protection.

• Covering cuts or wounds with waterproof dressings before entering flood water.

• Maintaining good personal hygiene, washing hands and feet extensively after contact with flooded and stagnant water.

• Getting out of wet clothes as soon as possible.

• Taking measures for proper waste disposal to control rat infestation.

• Raising awareness and educating the public about the risk of leptospirosis during the rainy season.

If leptospirosis is diagnosed early and treated with antibiotics, recovery is much quicker, avoiding life-threatening complications. But if detection and treatment are delayed, the kidneys, liver, lungs, and even the brain may be affected.

The expert advises that people who are ill after being exposed to flood water and are facing fever or flu-like symptoms for more than two days should also seek medical help as soon as possible, informing their doctor about their flood water exposure.

Even though the risk of leptospirosis is high during the monsoon, the best way to steer clear of this infection is to educate the masses about its symptoms and prevention. Early clinical intervention can help de-escalate the situation promptly.

Headaches are one of the most common health complaints and are often caused by stress, lack of sleep, dehydration, excessive screen time, skipped meals, or other lifestyle factors. While most headaches are benign, experts said that frequent or unusual headaches should not be ignored, as they may signal an underlying medical condition that requires evaluation.

The experts told HealthandMe that paying attention to changes in headache frequency, pattern, and associated symptoms can help identify when medical attention is necessary.

Increasing Frequency Is a Warning Sign

According to Dr. Rajneesh Kummar, Vice Chairman & Unit Head, Neurology, Max Super Speciality Hospital, Dwarka, one of the most common concerns is increasing frequency.

“If someone who previously experienced occasional headaches starts getting them several times a week or finds that painkillers are needed more often than before, it is worth getting evaluated,” he told HealthandMe.

“People should seek medical attention if they have headaches more than 10 to 15 days a month, if the headaches are getting worse, or if they are beginning to interfere with work, daily activities, or quality of life,” added Dr. Praveen Gupta, Chairman, MAIINS, Marengo Asia Hospitals, Gurugram. He also noted that medication-overuse headaches can result from taking painkillers regularly, leading to a cycle of recurrent pain.

Also read: Shingles Vaccine May Help Fight Dementia, Suggest Studies

Watch For Changes In Headache Pattern

A change in the pattern of headaches should not be ignored. Dr. Kummar said a headache that feels different from what a person has experienced in the past, particularly after the age of 50, deserves medical attention. Headaches that wake a person from sleep, are worse in the early morning, or are associated with vomiting should also be assessed further.

Dr. Gupta advised prompt medical evaluation for people over the age of 50 who develop a new type of headache. He also recommends seeing a doctor if a person has a history of cancer, a weakened immune system, or develops a headache after a head injury.

Symptoms That Need Immediate Medical Attention

The neurologists highlight several "red flag" symptoms that require urgent medical assessment. They advised immediate consultation if a headache is accompanied by

• weakness on one side of the body,
• difficulty speaking,
• double vision,
• confusion, seizures,
• loss of consciousness,
• Numbness
• balance problems

Read More:Sepsis: India Joins Global Trial To Screen Newborns For Deadly Drug-Resistant Infections

Not Every Headache Is a Brain Tumor

Dr. Kummar stated that many people worry that every headache is related to a brain tumor or another serious brain disorder. Fortunately, this is rarely the case.

However, persistent or unusual headaches should not be self-diagnosed, and timely consultation helps identify the cause and ensures appropriate treatment before the problem begins affecting quality of life, the expert said.

Early Diagnosis Key

Dr. Gupta told HealthandMe that early diagnosis can help manage common neurological disorders such as migraines, cluster headaches, and chronic tension-type headaches. A thorough history, neurological examination, and imaging studies, when appropriate, can help determine the cause.

The experts emphasize that if headaches are becoming more frequent, changing in patterns, or affecting daily life, it is time to consult a neurologist. Early diagnosis can provide relief, prevent complications, and improve overall quality of life.