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.”

Brain health is often associated with old age, but according to neurologists, the foundation for healthy cognitive function is laid much earlier.

On World Brain Day, they warned that the 30s and 40s are a crucial period to protect the brain, as lifestyle habits and underlying health conditions can quietly affect memory, concentration, and overall cognitive health.

Brain Ages Alongside the Heart

Speaking to HealthandMe, Dr. Gurucharan Adoor, Neurologist, Apollo Hospitals Bannerghatta Road, Bengaluru, said brain health is closely linked to cardiovascular health. High blood pressure, high cholesterol, and elevated blood sugar can silently damage the brain years before noticeable symptoms appear.

His advice? Make preventive health checks a routine by monitoring blood pressure, blood glucose or HbA1c, cholesterol, weight, and waist circumference—especially for people with a family history of diabetes, stroke, or early heart disease.

Brain Fog A Warning Signal

Also read: Neurological Disorders Emerging As India's Next Major Public Health Challenge, Say Experts

Dr. Adoor said sleep is often the first thing people sacrifice during their busiest years, but the brain pays the price.

Irregular sleep schedules, untreated sleep apnea, and repeated nights of poor-quality sleep can lead to mental fatigue, difficulty concentrating, and persistent brain fog. If brain fog continues, he said, it should not be ignored, as it may indicate an underlying health issue that requires attention.

Dr. Bhushan Joshi, Consultant Neurologist, Manipal Hospital, Kharadi, Pune, told HealthandMe that he is "seeing more professionals in their 30s and 40s complaining of brain fog than ever before". According to him, hormonal changes and chronic inflammation are among the common but often overlooked causes.

Hormonal Changes Can Affect Cognitive Function

Dr. Joshi noted that hormonal fluctuations can significantly influence brain function. Women entering perimenopause may experience difficulty concentrating, while others may notice "word retrieval and short-term memory due to changing estrogen levels that influence brain function."

He added that it is not limited to women. Men also undergo age-related hormonal changes that can affect energy levels and cognitive performance. While these changes are often temporary, they can still be distressing.

Read More: Aspartame, Saccharin, Erythritol Linked To Faster Brain Ageing: Study

Chronic Inflammation May Reduce Mental Clarity

Dr. Joshi explained that chronic low-grade inflammation can also contribute to brain fog. Conditions such as obesity, diabetes, autoimmune diseases, and persistent infections can trigger inflammatory responses that interfere with the brain's ability to process information efficiently. In some people, inflammation has been linked to reduced attention, poor memory, and diminished mental clarity.

Small Lifestyle Changes Key

The good news: Simple daily habits can support long-term brain health. Regular physical activity—whether it's walking, cycling, dancing, or strength training several times a week—improves blood flow to the brain, boosts mood, and supports healthy ageing.

Dr. Adoor also recommends limiting unnecessary screen time, taking regular breaks from phones and digital devices, and focusing on one task at a time to reduce mental overload.

When Should You See A Doctor?

Occasionally feeling mentally sluggish is common, but worsening memory problems or cognitive changes that begin interfering with work or daily life should not be ignored, Dr. Joshi said.

He added that these symptoms may stem from treatable conditions such as thyroid disorders, vitamin deficiencies, anxiety, or depression, making timely medical evaluation important.

Insufficient sleep can impact the brain. A good night's sleep allows the brain to repair and even recharge. Poor sleep over time can increase the risk of several neurological disorders and affect overall brain health.

This article helps to understand how poor sleep can take a toll on neurological health. Read on to know more about this and get a sound sleep at night.

Currently, due to hectic schedules, people are now sacrificing sleep to meet work deadlines, study longer, or spend more time on screens. Missing a few hours of sleep once in 2-3 months is harmless.

However, chronic sleep deprivation can not only cause irritation and weight gain but also neurological issues. During sleep, the brain processes memories, repairs nerve cells, regulates emotions, and clears waste products that accumulate throughout the day.

When sleep is disturbed on a regular basis, there can be a risk of neurological problems over time.

How Poor Sleep Affects The Brain

Also read: The Silent Impact of Stress On Your Brain: How Chronic Stress Affects Memory, Focus, And Mental Health

If you are one of those who is unable to get a sound sleep at night, then beware. If you are a night owl, then you will have to ensure you sleep well now.

Sleep helps the brain store and organise new information. Lack of sleep can make it difficult to concentrate, learn new skills, and remember important details. Many will also experience poor decision-making.

Poor sleep, especially when associated with conditions like sleep apnoea, can increase blood pressure and reduce oxygen supply, raising the risk of stroke in the near future.

Long-term sleep deprivation may reduce the brain's ability to clear harmful proteins such as beta-amyloid, which are linked to Alzheimer's disease and other forms of dementia.

People who sleep too little or have poor-quality sleep can also suffer from constant headaches and migraine attacks. In people living with epilepsy, inadequate sleep is a common trigger for seizures. Poor sleep increases the risk of anxiety, depression, irritability, and emotional stress.

Tips For Better Brain Health Through Sleep

It is necessary to get at least 7-9 hours of sleep per day. Maintain a consistent sleep and wake-up schedule.

Avoid screens, caffeine, and heavy meals before hitting the sack. Exercise regularly but avoid intense workouts late at night.

Keep your bedroom quiet, cool, and dark so that you can sleep better. Seek help from the doctor if you snore loudly, stop breathing during sleep, or feel excessively sleepy during the day.

So, just like a balanced diet, exercise, and staying stress-free by doing yoga and meditation, getting a good night’s sleep is also important. Sleep well and prevent any neurological issues.

In today's fast-paced world, stress has become an unavoidable part of life. While short-term stress can help us stay alert and respond to challenges, prolonged or chronic stress can have a significant impact on brain health.

On the occasion of World Brain Day, it is important to raise awareness about how unmanaged stress can silently affect memory, concentration, emotional well-being, and overall quality of life.

How Chronic Stress Affects the Brain

When the body is under constant stress, it releases higher levels of cortisol, commonly known as the stress hormone. Persistently elevated cortisol can interfere with the normal functioning of the brain, particularly areas responsible for learning, memory, and decision-making.

Individuals may experience forgetfulness, difficulty concentrating, reduced productivity, irritability, anxiety, and disturbed sleep. If left unaddressed, chronic stress may also increase the risk of depression and other mental health disorders.

How to Protect Your Brain from Stress

The good news is that the brain has an incredible ability to recover when stress is managed effectively. Adopting healthy lifestyle habits such as regular physical activity, adequate sleep, mindfulness practices, balanced nutrition, and maintaining meaningful social connections can significantly reduce stress levels and protect brain function. It is equally important to recognize when stress becomes overwhelming and seek timely professional support.

Prioritize Brain Health

Brain health is just as important as heart health, and taking care of our mental well-being should never be overlooked. This World Brain Day, let us prioritize stress management as an essential part of a healthy lifestyle. By identifying the early signs of chronic stress and making positive lifestyle changes, we can preserve memory, improve focus, enhance emotional resilience, and ensure a healthier brain for years to come.