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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.”
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The United Kingdom is facing constant heatwaves. So far, the nation has witnessed two heatwaves, while the natural temperature increases usually during late July and August, thus creating fear and the possibility of more and more temperature rises. As the country has been going through a weather roller-coaster since May, there was a huge area of high pressure, commonly explained as a 'heat dome'. This resulted in dry, very warm, and sunny weather in the island nation.
Notably, the temperature soared up to 35.1 °C in London during the month of May. The temperature in the UK has been on a rising trend over the past few years, and the first time it touches 40C in July 2022. And according to the experts at the Met Office, if global warming continues at its current pace, temperatures in the mid-forties could be a serious possibility for the UK by 2050.
The World Health Organization advises people to drink plenty of water, avoid going outdoors during the hottest hours of the day, wear loose and light-coloured clothing, and keep homes as cool as possible as temperatures continue to spike across many parts of the world.
Indians are used to living with intense summer heat, and over the years, people have developed simple yet effective ways to cope with it. Many prefer to finish outdoor work during the cooler hours of the morning or after sunset. Drinking plenty of water and traditional cooling beverages, seeking shade whenever possible, and keeping a close eye on elderly family members, young children, and people with existing health problems are all common practices during extended spells of extreme heat.
Also Read: Why Thousands Of Black Men In The UK Are Now Being Invited For Prostate Cancer Screening?
The worsening conditions have disrupted healthcare services, with media reports saying hospitals have had to postpone critical imaging scans after sensitive equipment overheated. Cities have also opened emergency cooling centers to protect vulnerable residents.
In Paris, authorities have announced temporary bans on public alcohol consumption and takeaway alcohol sales to ease pressure on hospitals. Public drinking will be prohibited from noon to 7 a.m. over the weekend, while takeaway alcohol sales will be banned between 6 p.m. and 7 a.m.
The extreme temperatures have also reached the sporting world. Formula 1's governing body, the FIA, has declared another "heat hazard" ahead of the Austrian Grand Prix weekend at Spielberg's Red Bull Ring, triggering additional measures to protect drivers, teams, and spectators.
The June 2026 heatwave has triggered red alerts across France, Spain, Italy, and the United Kingdom, and killed dozens of people.
Health experts warn that prolonged exposure to extreme heat can have serious and sometimes fatal consequences, particularly for older adults and people with underlying medical conditions.
According to the WHO, extreme heat can overwhelm the body's ability to regulate temperature, increasing the risk of heat exhaustion and heatstroke. As the body works harder to cool itself, it places added strain on the heart and kidneys, potentially worsening chronic conditions such as cardiovascular, respiratory, mental health, and diabetes-related illnesses, and increasing the risk of acute kidney injury.
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Although monsoon rains provide relief from the unbearable summer heat, they also increase the risk of infections, dehydration, and diseases that are transmitted through water and that can affect the functioning of your kidneys. Since kidneys play a crucial role in eliminating toxins from your body and maintaining fluid balance, kidney care during the monsoon season becomes necessary.
Though it is cooler during monsoon rains, your body needs enough water to help the kidneys filter the toxins efficiently. Try drinking 2-3 liters of clean water daily, or according to the requirement advised by your doctor. Avoid drinking contaminated water, as it increases the risk of infections in the kidneys.
Eat fresh and cooked food at home instead of junk food that might get contaminated during the monsoon rains. Include seasonal fruits, vegetables, whole grains, and healthy protein sources in your diet. Restrict the intake of excess salt, canned products, and sugar drinks.
The monsoon season is prone to UTIs that may eventually reach the kidneys if not treated on time. Keep your body clean, wear dry clothes, and never keep urine in your bladder for a prolonged period. In case you have burning sensations while passing urine, fever, or pain in your lower abdomen, do see a doctor.
Individuals suffering from diabetes, hypertension, or pre-existing kidney problems should take special care of themselves throughout the monsoon. They should be taking their medications, measuring their sugar and blood pressure levels, and undergoing regular medical examinations to avoid kidney diseases.
Analgesics and other OTC medications can cause damage to the kidneys when consumed frequently and without consulting a doctor.
Conclusion
It does not take much effort to maintain the health of your kidneys during the monsoon season. Simple things such as staying well-hydrated, consuming hygienic food, preventing any infection, keeping control of existing illnesses, and taking no medicines unnecessarily will ensure that your kidneys continue to perform at their best. In case of any swelling, change in urine output, fever, or back pain, you must see a doctor right away. The importance of the kidneys is undeniable for your well-being.
(By Dr. Bhanu Mishra, a Consultant- Nephrologist at Fortis Hospital, Shalimar Bagh)
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When one hears about plastic surgery, he or she usually associates it with beauty operations designed to improve one's appearance.
Reconstructive plastic surgery is a very particular field of medicine that addresses problems with the restoration of patients' form and functions who suffer from trauma, cancer, birth defects, burns, and complicated wounds. For many people, reconstructive surgery is far from beautification. It is all about getting back to an independent life.
Injuries that can occur following accidents on the road, incidents at industries, electric burns, and animal bites often lead to severe destruction to the skin, muscles, tendons, nerves, blood vessels, and bones. In addition, cancers of the breast, head and neck, mouth, skin, and limb regions are often treated with extensive surgical excisions to provide complete clearance from the disease.
Though these operations are necessary to save lives, they might lead to considerable impairment and deformities in the patients. Reconstructive plastic surgery helps solve these problems.
Today's reconstruction surgery uses sophisticated methods, including microsurgical free tissue transfer, perforator flaps, local and regional flap reconstruction, split-thickness and full-thickness skin grafting, nerve grafting, tendon reconstruction, and vascular anastomosis.
The application of microsurgery, in particular, has greatly improved the possibilities for performing reconstruction surgeries through transferring viable tissue from one region of the body to another with the re-establishment of blood supply from blood vessels of just one to three millimeters in diameter using a surgical microscope.
One of the biggest breakthroughs in the field of reconstructive surgery has been in the area of post-cancer treatment. Women who have undergone surgery due to breast cancer have the option to undergo either immediate or delayed breast reconstruction surgery through implants or through autologous tissues to help restore their self-image and mental well-being.
Similarly, patients who have undergone surgery due to oral, jaw, or facial cancer can improve their functionality and social standing through microvascular surgery.
The other significant factor to consider is the importance of reconstructive surgery in the treatment of burns. Severe burns typically lead to contracture scars and limited movement of joints.
Excision, skin grafting, flaps, and scar revision surgeries are key in improving function, aesthetics, and reducing disability. Reconstruction of hands following injuries or burns allows people to carry out their daily tasks and work.
Reconstruction is not limited to the surgical theater but is best done using a multi-disciplinary team comprising plastic surgeons, oncologists, trauma surgeons, physiotherapists, occupational therapists, psychologists, dietitians, and rehabilitators. Rehabilitation, scar management, physiotherapy, and follow-up are just as important after surgery as the surgery itself.
Reconstructive plastic surgery is thus much more than a field of surgery; it is a specialty whose goal is to restore hope. Through a blend of surgical skills and compassion, it gives people an opportunity to transcend the physical and psychological effects of injuries or cancers. For many people, it changes the experience of survival into that of recovery.
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