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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
Extreme heat is not “just a bad summer”. (Photo credit: AI generated)
When Indian summers touch 48 degrees, it’s no longer just uncomfortably hot—it’s a serious public health challenge. Extreme heat affects everything from hydration levels in the body to digestion, the health of your skin, heart, and even mental well-being. Surviving (and staying healthy) through such brutal temperatures requires 360-degree body care, not just an extra glass of water or switching on the AC.
Dr P. Venkata Krishnan, Senior Consultant & Director—Internal Medicine, Narayana Hospital, Gurugram, in an interview with Health and Me, shared a complete and practical survival plan to help your body cope with the extreme Indian summer—inside and out.
Hydration: Go Beyond Plain Water
In intense heat conditions, your body loses water and electrolytes very quickly through sweat. Electrolytes help carry water to the blood and tissues. Hence, drinking only plain water in summer may not suffice. Try sipping water consistently at regular intervals instead of gulping large quantities at once. Electrolyte-rich fluids like coconut water, lemon water with a pinch of salt, or buttermilk are healthy, affordable options to soothe parched throats. Avoid excess caffeine, colas, and alcohol, as they increase dehydration; if you must indulge, have a glass of water before your coffee or alcoholic drink.
Pro tip: Check your urine colour—dark yellow is a warning sign of dehydration.
Eat Light, Cool, and Smart
Our digestive systems are also tired in extreme summers. Spicy, heavy, and oily foods generate more internal heat, which puts an additional burden on digestion. Opt for seasonal fruits like watermelon, muskmelon, papaya, and berries instead of chips and snacks.
To ease digestion, add items like curd, rice, cucumber, and bottle gourd to your meals. Avoid red meat and fried foods during peak summer days. Smaller, lighter meals are easier for the body to process in extreme heat. Find ways to increase hydration through fruits and vegetables in your food too, apart from water intake.
Protect Your Skin from Heat Damage
Heat doesn’t just tan your skin—it accelerates ageing, causes pigmentation, and triggers rashes. Incorporating a summer skincare regimen can help prevent damage to your skin.
Mind Your Heart and Blood Pressure
Extreme temperatures put additional stress on the cardiovascular system, especially in people with hypertension, diabetes, or heart conditions. There are just a few things to bear in mind. When the temperature outside sizzles, avoid stepping outdoors for prolonged periods, especially between 12 pm and 4 pm, when the sun beats down mercilessly.
Take all prescribed medications exactly as advised—don’t skip doses even if you experience heat-induced nausea. If you feel dizzy or experience palpitations or severe fatigue, consult your doctor as soon as possible. Heat exhaustion can silently progress to heatstroke, which is a medical emergency.
Smart Cooling at Home and Work
Air conditioning is helpful, but overexposure can lead to dry skin, headaches, and respiratory discomfort. However, since the emphasis is more on cooler environments in summer, there are a few ways to avoid overexposure to AC.
Once every two or three hours, step away from your desk for a few minutes. Walk or stand, and sip some water. Open windows, if possible, to avoid thermal shock. Set AC temperatures between 24 and 26 degrees, despite the urge to cool the surroundings further. Use fans and cross-ventilation whenever possible, relying a little less on air conditioning in the process. Never move directly from extreme heat into freezing AC environments, or vice versa, as it can impact your body suddenly.
Sleep & Mental Well-being Do Matter
Poor sleep due to heat can increase irritability, anxiety, and fatigue. Include some calming activity before bedtime. Put away screens, as they radiate heat too. Some tips to help you sleep better:
Special Care for Vulnerable Groups
Children, elderly individuals, pregnant women, and outdoor workers are at higher risk of heat-related health concerns. They should particularly ensure that they hydrate more frequently.
A holistic approach covering hydration, nutrition, skincare, heart health, and mental well-being can help your body adapt and stay resilient. Extreme heat is not “just a bad summer." Treat it seriously, listen to your body, and make smart daily choices, because protecting yourself from the heat today prevents long-term health problems tomorrow.
Drinking alcohol is one of the risk factors for cancer. (Photo credit: iStock)
Cancer is one of the most dreaded diseases. It is characterised by a malignant tumor that obstructs the normal functioning of organs. According to a recent analysis from the World Health Organisation (WHO), more than a third of cancer cases in the world are preventable. Cervical, stomach, and lung cancers make up half of the cases. This implies that millions of such deadly cases in the world can be prevented with behavioural changes, timely medical intervention, reduced occupational risks, and an ability to tackle environmental pollutants. It turns out that most preventable cancers can be avoided by making two simple lifestyle changes.
Researchers say that addressing preventable causes represents one of the most powerful opportunities to reduce the global cancer burden. The analysis also noted that, in 2022, there were approximately 19 million new cases of cancer, and 38 per cent were related to 30 modifiable risk factors. The most common modifiable risk factors are:
The most common preventable risk factor, however, was smoking tobacco. It is associated with 15 per cent of all cancer cases in a year. In men, the risk was significantly higher. Smoking contributed to 23 per cent of the new cancer cases globally in men that year. However, smoking alone was not the only cause; air pollution, depending upon the region, played a huge role. In East Asia itself, 15 per cent of lung cancer cases in women were attributed to air pollution. In Western Asia and Northern Africa, 20 per cent of lung cancer cases in men were due to air pollution.
After smoking tobacco, the next key lifestyle risk factor was drinking alcohol. It accounted for 3.2 per cent of all cancer cases—approximately 7 lakh. As per researchers’ estimates, drinking alcohol and smoking tobacco account for about 48 per cent of all preventable cancer cases. Infections, however, were associated with 10 per cent of new cancer cases. Among women, the largest share of these cases was attributed to high-risk human papillomavirus (HPV), which contributes to cervical cancer cases. However, with the HPV vaccine being more accessible, cervical cancer cases have reduced.
Stomach cancer cases are higher among men and are mostly associated with inadequate sanitation, smoking, infections, and poor access to clean water. A first-of-its-kind analysis, this study helps show how much cancer risk comes from preventable causes. By examining these patterns, countries can be alerted to work towards preventing cancers in the first place by taking appropriate steps.
Researchers also mentioned in their paper that 4 in 10 cancer cases in the world in 2022 could have been prevented by eliminating the risk factors considered in the study. The study was published in the Nature Medicine journal.
Credit: iStock
Sleep is a very crucial part of one's life, and it can affect one's life as a whole. The sleep cycle and duration can determine a lot about one's physical and emotional well-being. Even biological aging is also immensely affected by the right amount of sleep, according to a recent study. The aforementioned research was published in Nature, and as per it, getting too little or too much sleep may speed aging in the brain and other body organs as well.
There were several studies that have been done on the same topic, and many of them concluded that getting less sleep can cause the speeding of one's biological age. Although this new study has come up with a new finding, and it went further than the previous studies on the same topic, the research shows that getting more sleep can also lead you to the same situation, and your biological aging speed can go higher due to it.
The lead study author, Junhao Wen, PhD, assistant professor of radiological sciences at Columbia University, said, “Sleep is fundamental for healthy aging and longevity. More importantly, it is potentially modifiable." He added, “In this study, we measure biological aging clocks across organs to link these clocks with sleep duration.”
The biological age is inherently different from chronological age, which is measured by the number of years one is alive, but on the other hand, biological age measures how quickly your cells and tissues are aging. Researcher Junhao Wen has done his research with different aging clocks, and these clocks are scientific, computational models that estimate a person’s biological age and how they are aging faster or slower than their chronological age.
Wen and his colleagues assessed the relationship between a person’s self-reported sleep duration and their biological age, using 23 aging clocks across 17 organs. The research defined too little sleep as less than 6 hours and too much sleep as more than 8 hours. The study concludes that, in general, people who slept too little or too much showed signs of faster biological aging than those who reported sleeping between 6.4 and 7.8 hours each day.
The same study also sheds light on the relationship between sleep and chronic diseases. The research suggests that a connection exists beyond brain influence. Notably, less sleep causes disorders like depression and anxiety disorders. Other possible conditions related to it are obesity, type 2 diabetes, hypertension, ischemic heart disease, and heart arrhythmias. On the other hand, longer sleep is associated with depression and illness.
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