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 vacations are ongoing, and at a time when heatwaves are at its worse, it is no wonder that most children and teens would prefer staying indoors. And for those who spend hours on video games, a psychologist has answered FAQs for parents. If you are concerned about the possibility of gaming addiction in your children, a senior psychologist lists symptoms and simple techniques to help parents deal with it better.

Neha Cadabams, Senior Psychologist and Executive Director at Cadabams Hospitals, in an interview with Health and Me, answered FAQs about the consequences of gaming addiction in children.

Parents often struggle to differentiate between normal gaming enthusiasm and problematic gaming behaviour. What are some of the earliest psychological warning signs that gaming may be becoming an unhealthy emotional dependency rather than just a hobby?

The difference usually becomes visible not through the number of hours spent gaming, but through the emotional role gaming begins to play in the child’s life. Gaming starts becoming concerning when it shifts from being recreational to becoming the primary way a child regulates emotions, avoids distress, or experiences self-worth.

Some of the earliest warning signs are emotional withdrawal from offline life, irritability or emotional outbursts when unable to game, noticeable sleep disruption, declining interest in activities they previously enjoyed, and increasing dependence on in-game achievements for confidence or validation. Parents may also notice that the child appears emotionally disengaged outside gaming environments or struggles to tolerate boredom, stress, or disappointment without returning to gaming immediately.

What is important to understand is that many children using gaming as an emotional coping mechanism continue functioning normally in school or daily routines initially, which is why the issue is often recognised late.

You mentioned that gaming often becomes an “escape hatch” for painful emotions. What are some of the deeper emotional or psychological struggles children may be trying to escape from through excessive gaming?

In many cases, excessive gaming is less about the game itself and more about what the virtual environment provides psychologically. For some children, gaming offers predictability, achievement, social acceptance, control, or emotional relief that they may not be experiencing consistently in real life.

The underlying emotional struggles can vary significantly. We commonly see children using gaming to cope with loneliness, social anxiety, bullying, academic pressure, low self-esteem, family conflict, emotional neglect, or feelings of inadequacy. For some adolescents, gaming becomes a space where they feel competent, valued, or emotionally safer than they do offline.

What makes this particularly concerning is that the emotional distress itself often remains hidden because the gaming behaviour becomes the visible focus. Families may attempt to reduce screen time without recognising the deeper emotional need the child is trying to fulfil through gaming.

Many teenagers who are struggling emotionally continue to perform normally in academics and daily life. Why is emotional distress among adolescents becoming harder for families to recognise today?

One of the biggest shifts we are seeing today is that emotional distress in adolescents no longer always appears as an obvious emotional breakdown or visible dysfunction. Many young people have become highly functional externally while internally struggling with anxiety, loneliness, emotional exhaustion, or low self-worth.

Adolescents today are also under constant pressure to remain socially connected, emotionally composed, and academically competitive. As a result, many learn to internalise distress rather than express it openly. Parents often expect mental health concerns to appear dramatically, but in reality, the early signs are usually subtle behavioural shifts such as emotional withdrawal, irritability, sleep changes, reduced communication, loss of interest in offline activities, or increasing emotional dependence on digital spaces.

Gaming can sometimes become one of the places where this hidden emotional life quietly reveals itself.

What are some common misconceptions parents have about gaming addiction and mental health?

One of the most common misconceptions is that gaming addiction is simply a discipline problem or a result of poor parenting. In reality, problematic gaming behaviour is often deeply connected to emotional coping, psychological vulnerability, and unmet emotional needs.

Another misconception is that all heavy gaming automatically indicates addiction. Many children and young adults engage deeply with gaming recreationally without it interfering with their emotional health or daily functioning. The concern begins when gaming starts replacing emotional coping, relationships, sleep, education, or the ability to function comfortably offline.

Parents also often focus only on restricting access to games without understanding why the child feels emotionally drawn toward gaming so strongly in the first place. Without addressing the underlying emotional factors, simply removing the game can sometimes intensify distress rather than resolve it.

With gaming becoming a massive part of youth culture in India, how can parents build healthier digital habits at home without making children feel controlled or misunderstood?

The starting point should not be surveillance or punishment, but emotional understanding and communication. Children are far more likely to engage positively with boundaries when they feel emotionally understood rather than judged.

Parents should focus on creating balance rather than framing gaming itself as the enemy. This includes encouraging offline activities, improving emotional conversations within the family, maintaining healthy sleep routines, and helping children build confidence and connection outside digital environments.

It is also important for parents to observe the emotional patterns around gaming rather than only the duration. How does the child behave when they are not gaming? Are they able to emotionally regulate offline? Are they socially connected outside virtual environments? Are they using gaming occasionally for enjoyment, or consistently to avoid discomfort, stress, or emotional pain?

In a country where diseases have become a daily topic of discussion, hypertension is gradually increasing behind closed doors. Also referred to as “the silent killer”, this ailment is notorious for making its presence known without symptoms, unlike many health conditions. By the time it is discovered, it may have already begun to affect vital organs.

Diabetes: A Comorbidity Giving Rise to This Vicious Cycle

One of the most prevalent comorbidities of hypertension is diabetes; together, the two create a difficult combination of chronic conditions affecting a patient's overall health. Diabetes causes high blood glucose (sugar) levels that, over time, damage blood vessels by reducing their ability to stretch or expand. When combined with the pressure caused by hypertension, these already compromised blood vessels can deteriorate rapidly, resulting in further damage.

The combined effects of diabetes and hypertension significantly increase the risk of heart-related complications, such as enlargement of the heart muscle, a reduced ability of the heart to pump blood effectively, and heart failure. Thus, the two conditions create a vicious cycle and emphasise the need for prompt diagnosis and treatment.

According to Dr Ameet Soni, AVP Medical Affairs, CORONA Remedies, “Hypertension and diabetes mellitus (DM) are two of the most common cardiometabolic disorders, often occurring together, and each exacerbates the impact of the other. When combined, these conditions significantly increase the risk of complications such as cardiovascular, cerebrovascular, and renal damage, particularly when symptoms are not identified early or when treatment adherence is inadequate. Minimising the risk of these complications depends on early identification, proactive risk assessment before diagnosis, and long-term adherence to treatment regimens for controlling blood glucose levels and blood pressure.”

According to Dr Manoj Chawla, Diabetologist, P.D. Hinduja Hospital and MRC, Khar, Mumbai, “These diseases are also termed ‘silent partners’, indicative of both their association and the silent damage they cause to bodily functions. The connection between these diseases in India is quite common owing to several factors, including a sedentary lifestyle, poor nutrition, obesity, excessive stress, and a lack of proper diagnosis. Individuals suffering from diabetes have twice the risk of developing hypertension compared with healthy individuals. Since both diseases are asymptomatic in many cases, patients may only discover them when complications arise. Early diagnosis of hypertension and diabetes is therefore vital. Tests such as blood pressure and blood glucose monitoring, weight management, proper nutrition, exercise, adequate sleep, and stress management all help to prevent these risks.”

Here are five alarming signs that your hypertension might be linked to diabetes.

1. Frequent Urination and Thirst: One of the earliest signs that hypertension may be associated with diabetes is frequent urination, accompanied by an abnormal increase in thirst. When blood sugar levels are high, the kidneys work overtime to filter and absorb excess sugar, leading to increased urine production. This, in turn, causes dehydration, prompting an increased thirst response.
2. Fatigue and Weakness: If you are experiencing unexplained fatigue or weakness, this could be a sign that your hypertension is coupled with diabetes. High blood sugar levels prevent glucose from entering the cells efficiently, leaving the body depleted of energy. Hypertension, in turn, places additional strain on the heart and circulatory system, leading to a further decline in overall energy levels.
3. Blurred Vision: The eyes are particularly vulnerable to the effects of both high blood pressure and diabetes. High blood sugar levels can damage the blood vessels in the retina, leading to diabetic retinopathy, which can cause blurred vision. Additionally, hypertension can further exacerbate this damage by increasing pressure within the blood vessels, resulting in worsening vision problems.
4. Numbness or Tingling in the Extremities: Diabetic neuropathy, a common complication of diabetes, causes nerve damage, particularly in the hands, feet, and legs. This nerve damage can lead to symptoms such as numbness, tingling or even a burning sensation in the extremities. When hypertension is present alongside diabetes, the blood vessels supplying the nerves may become compromised, exacerbating the symptoms of neuropathy.
5. Elevated Blood Sugar with Uncontrolled Hypertension: If your blood pressure is consistently high despite treatment or lifestyle changes, it could indicate an underlying issue, such as uncontrolled diabetes. Insulin resistance, which is common in type 2 diabetes, can worsen hypertension by increasing blood pressure due to factors such as weight gain and metabolic imbalances. When blood sugar levels are poorly managed, they can interfere with blood pressure regulation.

Early detection and intervention are key to managing both conditions and reducing the risk of complications. If you are experiencing any of the symptoms mentioned above or have a family history of either condition, it is vital to consult your healthcare provider. Regular screenings, lifestyle modifications and adherence to prescribed treatments can help control both hypertension and diabetes, improving your quality of life and preventing long-term complications.

Parkinson’s disease is characterized by slowness of daily activities, rigidity, and tremors with gait issues, commonly seen after the age of 45-50 years.

It is two times more common in men than women, though clinical features, response to the treatment, and prognosis are different in women as compared to men. From subtle early signs to how the condition develops over time, gender can shape the Parkinson’s journey in important ways.

Women usually experience Parkinson’s disease at a later age, but with faster progression of symptoms as compared to men. There is a need for more research in this space; however, we will try to shed light on these differences in Parkinson's trajectories in men and women based on available evidence.

Why Is Parkinson’s Less Common In Women?

Estrogen, a group of primary female sex hormones, is neuroprotective and protects dopaminergic neurons in women; women also have a higher baseline reserve of dopaminergic neurons. Hence, Parkinsonism is less common in women.

In the post-menopausal period, once this estrogen-related neuroprotective effect disappears, Parkinson’s symptoms progress rapidly. Motor symptoms emerge later in women with tremors, rigidity, and gait disturbances being more common and severe. Freezing of gait and postural instability with falls are more common in women.

Differences In Motor vs Non-Motor Symptoms

Non-motor symptoms like pain, fatigue, autonomic disturbances, sleep disorders, constipation, and mood disorders, including depression and anxiety, are more common and severe in women. Men with Parkinson’s disease have worse general cognitive abilities; however, women have worse visuospatial abilities.

Women with Parkinson’s receive less social support, lower quality care, attend medical appointments alone, and report more psychological stress. Women have a lower body mass index and higher bioavailability of levodopa, which makes them more susceptible to the side effects of levodopa, such as motor fluctuations and dyskinesia, which entail involuntary movements like fidgeting and writhing.

Why Personalized Treatment Matters

There is a clear need for personalized and tailored treatment. The different and distinctive clinical features in women, like later onset, higher tremors and rigidity, higher dyskinesia and motor fluctuations from drugs, and worse non-motor symptoms, require tailored, sex-specific treatment strategies rather than a “one-size-fits-all” approach.

Clinicians must give importance to the screening and management of non-motor symptoms in women, which are the main factors of their decreased quality of life. Women with this ailment go through longer delays in diagnosis and less access to specialists, highlighting a need for better healthcare access for women.