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.”

Water remains the most reliable and effective way to keep the body hydrated during hot weather. However, many people increasingly turn to energy drinks during long workdays or busy schedules, hoping to stay refreshed or energized.

Experts warn that relying on these drinks instead of water can create several health risks, particularly when temperatures are high.

Energy drinks are typically marketed as quick solutions for fatigue and low energy. They often contain high levels of caffeine, added sugars and stimulants that may temporarily increase alertness.

While this short term boost may seem appealing, experts say these drinks are not designed to support proper hydration. When consumed frequently, especially during summer, they can place extra strain on the body rather than helping it stay cool and hydrated.

Dr Arun Sachdeva, an Internal Medicine Specialist at Felix Healthcare in Bengaluru, explains that replacing water with energy drinks during hot weather can interfere with the body’s natural hydration balance.

According to him, excessive consumption of these beverages may contribute to both immediate and long term health concerns, particularly when the body is already losing fluids through sweating.

Higher Risk Of Dehydration

During summer, when sweating already causes significant water loss, this effect may make it harder for the body to maintain proper hydration.

When energy drinks replace water intake, the risk of dehydration increases. Common symptoms of dehydration include fatigue, dizziness, headaches and dry mouth. In more severe cases, dehydration can also affect concentration, physical performance and overall wellbeing.

Excessive Stress On The Heart

For people who already have high blood pressure or existing heart conditions, excessive intake of energy drinks could increase the risk of heart palpitations or irregular heart rhythms. Experts therefore recommend limiting the consumption of these beverages, particularly during periods of intense heat.

High Sugar And Empty Calories

Frequent spikes in blood sugar levels may gradually increase the risk of metabolic disorders. Over time, consistently high sugar consumption can contribute to health problems such as obesity and type 2 diabetes.

Therefore, doctors advise paying attention to sugar content in beverages, especially during hot weather when people tend to drink more fluids throughout the day.

Sleep Disruption And Energy Crashes

Instead of providing sustained energy, regular consumption of energy drinks may lead to temporary stimulation followed by sudden drops in energy levels.

This cycle can leave individuals feeling even more tired later in the day, creating a pattern where they rely on more caffeinated drinks to stay alert.

Kidney Health And Hydration

When the body does not receive enough water, the kidneys may struggle to function efficiently. Over time, poor hydration can increase the risk of kidney related problems and may affect the body’s ability to regulate fluid levels effectively.

Why Water Remains The Best Choice

Doctors emphasize that water remains the safest and most effective drink for maintaining hydration during summer. It helps regulate body temperature, supports organ function and replaces fluids lost through sweating without introducing excess caffeine, sugar or stimulants.

Energy drinks may occasionally provide a quick boost of alertness, but they should not be used as a substitute for water. Maintaining regular water intake throughout the day remains one of the simplest and most effective ways to support overall health during hot weather.

Late nights at the office, quick dinners made from instant noodles or packaged snacks and constant deadline pressure are often treated as normal parts of professional life, but doctors say these habits may gradually affect kidney health.

Nephrologists report that routine health screenings are increasingly detecting early signs of kidney stress in people in their late 20s to 30s, even among those without traditional risk factors such as diabetes, smoking or a family history of kidney disease.

According to nephrologist Dr Kristin George, some patients show warning indicators such as elevated creatinine levels, high blood pressure or traces of protein in the urine.

Creatinine is a waste product filtered out by the kidneys and rising levels may indicate that the organs are not removing waste as efficiently as they should.

Doctors say that when lifestyle patterns are examined more closely, prolonged work stress, sedentary routines, irregular meals and frequent late-night snacking often emerge as common factors.

Kidney Disease Is A Growing Global Concern

Chronic kidney disease, or CKD, involves the gradual loss of kidney function over time and can eventually lead to kidney failure if it is not detected early.

Health experts warn that CKD could become one of the leading causes of death globally in the coming decades. Diabetes and hypertension account for a large proportion of cases and according to the International Society of Nephrology these two conditions combined contribute to nearly two-thirds of chronic kidney disease cases worldwide.

Doctors also note that prolonged stress may indirectly increase these risks because long-term elevations in stress hormones such as cortisol can raise blood pressure and disrupt metabolic balance.

Processed Foods And Late-Night Eating

Late-night meals frequently include instant noodles, chips, processed meats or packaged snacks, many of which contain significant amounts of sodium.

Sodium helps regulate fluid balance, but excessive intake forces the kidneys to work harder to maintain stable blood pressure. The World Health Organization estimates that most adults consume nearly twice the recommended daily sodium intake, largely because of processed foods.

Doctors say that consistently high salt intake can gradually increase blood pressure and place additional strain on kidney function.

Sedentary Work And Poor Hydration

Hydration habits and prolonged sitting are additional concerns among office workers. Many professionals rely heavily on coffee, energy drinks or sugary beverages during long workdays, often replacing plain water as the main source of fluid intake.

While moderate caffeine consumption is generally considered safe, relying mainly on caffeinated drinks can contribute to mild dehydration, which may affect blood circulation through the kidneys and increase the likelihood of kidney stones.

At the same time, many corporate jobs require employees to remain seated for extended periods. Sedentary routines have been linked to obesity, impaired glucose metabolism and high blood pressure, all of which are major contributors to kidney disease.

Early Signs Often Go Unnoticed

Kidney disease often develops silently in its early stages, which means many people remain unaware of the problem until significant damage has occurred.

Early kidney dysfunction may progress quietly for years before symptoms appear, and by the time signs such as swelling, fatigue or changes in urination become noticeable, kidney function may already be reduced.

Doctors therefore recommend periodic screening tests, including serum creatinine measurements, estimated glomerular filtration rate (eGFR) tests and urine albumin tests, which can detect early signs of kidney damage.

Small Changes Can Make A Difference

Health experts say that protecting kidney health often begins with small lifestyle changes. Reducing processed food consumption, limiting excessive salt intake, staying adequately hydrated and maintaining regular sleep schedules can all support kidney function.

Taking short movement breaks during long work hours and managing stress through regular physical activity or relaxation techniques may also help reduce the long-term strain that modern work routines place on the body.

Doctors emphasise that kidney disease usually develops gradually, which means recognising and adjusting everyday habits early may help many young professionals protect their kidney health.

Heart disease remains the leading cause of death in India, often affecting people nearly a decade earlier than in Western populations.

Recent cholesterol management recommendations from the American Heart Association (AHA) and related global guidelines emphasize aggressive control of LDL cholesterol — the so-called “bad cholesterol.” For Indians, these recommendations carry particular importance.

Studies consistently show that South Asians have a higher tendency for premature coronary artery disease. Even individuals who appear relatively lean may have underlying metabolic risk factors such as insulin resistance, abdominal obesity, and elevated triglycerides. Because of this inherent susceptibility, the same cholesterol levels that may appear “borderline” in Western populations can translate into a significantly higher cardiovascular risk in Indians.

What Does The New Guidelines Say

The newer guidelines shift the focus away from merely treating cholesterol numbers to assessing an individual’s overall cardiovascular risk.

Factors such as diabetes, smoking, blood pressure, family history of early heart disease, and age are considered together. If a person falls into a higher-risk category, doctors now recommend lowering LDL cholesterol more aggressively than before.

For people who already have established heart disease, the goal is particularly strict. LDL cholesterol is ideally reduced to levels below 55 mg/dL. Achieving such targets often requires not only lifestyle changes but also medications such as statins, and in some cases, newer therapies that further lower cholesterol levels.

How Indians Can Prevent Heart Disease

For Indians without diagnosed heart disease, prevention becomes the key message. Regular screening after the age of 30–35 years is increasingly advisable, especially if there is a family history of heart disease or diabetes. Diet also plays a central role: reducing trans fats, limiting refined carbohydrates, increasing fibre intake, and maintaining a healthy body weight can significantly influence cholesterol levels.

Equally important is regular physical activity. Even 30 minutes of brisk walking most days of the week can improve lipid profiles and reduce cardiovascular risk.

The key takeaway is simple: Indians develop heart disease earlier and often at lower cholesterol levels.

The newer AHA recommendations reinforce the need for earlier screening, individualized risk assessment, and more proactive cholesterol management to prevent future heart attacks.