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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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Amid rising summer temperatures, along with pollution, eye specialists today warned that the heat and dust can add stress on the eyes, leading to dryness, allergies, infections, and irritation.
Delhi witnessed its first official heatwave day of the month on Tuesday, as scorching sunshine and dry winds pushed temperatures beyond 45°C across several parts of the city.
The India Meteorological Department (IMD) warned that conditions are likely to worsen over the coming days, with temperatures expected to rise to nearly 46°C on May 20.
The weather department has also issued an orange alert for Delhi until May 25, cautioning residents about prolonged heatwaves and excessive heat conditions expected over six consecutive days.
Speaking to HealthandMe, Dr. Bhavatharini M, Senior Consultant Ophthalmologist at Dr. Agarwal's Eye Hospital, said that summer conditions can significantly impact eye health.
“Summer places added stress on the eyes, particularly in cities like New Delhi where heat, dust, and pollution are significant factors,” she said.
Dr. Bhavatharini explained that common concerns during the season include dryness caused by increased tear evaporation while
Dr. Kalpana R, Senior Consultant, Ophthalmology at SIMS Hospital, also warned of problems that affect the eyes during this season, such as
She stressed the importance of maintaining proper hydration and following a balanced, nutritious diet to support eye health during the hotter months.
Dr. Bhavatharini advised people to take simple preventive measures, such as wearing UV-protective sunglasses, staying well-hydrated, avoiding rubbing their eyes, and using protective goggles while swimming.
“Persistent redness, irritation, or blurred vision should not be ignored and warrants timely evaluation by your eye specialist,” she added.
Dr. Kalpana further recommended wearing protective eyewear outdoors to shield the eyes from harmful UV rays and glare.
People travelling on bikes should wear helmets with visors to reduce exposure to dust and pollution, while swimmers should use swimming goggles to prevent infections and injuries associated with pool water.
For allergies, she advised people not to rub their eyes even if they experience itching.
“Just as a home remedy, you can use an ice pack over the closed eyelids or splash cold water over the closed eyelids to get some immediate relief,” she told HealthandMe.
The experts also warned against self-medication in case of eye infections.
“And for viral infections and bacterial infections, if you feel that you get a sticky discharge and redness, you must immediately go to an ophthalmologist and get it treated. Never use over-the-counter medicines for any of your infections,” Dr. Kalpana said.
She added that people with common cold symptoms should wear masks and avoid touching commonly used surfaces if they have signs of an eye infection, as infections can spread through secretions.
Credit: Kim Kardashian/X
American TV personality Kim Kardashian has opened up about the steps she takes to care for her health, including taking 35 supplements daily.
Speaking on a podcast, the 45-year-old mother admitted she suffers from “pill fatigue.”
“I take probably 35 supplements a day,” the reality star revealed. “I spread them out three times a day.”
The mother of four said she struggles particularly with fish oil supplements because of their lingering taste, and even wished there were an IV drip alternative available.
“I thought, ‘Okay, I can't do this fish oil anymore. I have pill fatigue. I have to stop these fish oil [supplements], and I got my bloodwork, and it was so evident that I stopped and I had to start again,” Kim said.
“I wish there was like an IV drip (for fish oil) I could do every day, and I would just do it on my way to work,” she added.
Also read: Amy Schumer Opens Up On Side Effects After “Botched” Colonoscopy And Weight Loss Journey
Further, Kim revealed that her family, including her mother, Kris Jenner, and sisters, regularly use DEXA scans to monitor bone density.
A DEXA scan (Dual-Energy X-ray Absorptiometry) is an imaging test that uses low-frequency X-rays to measure bone density and analyze total body composition, including lean muscle, fat mass, and visceral fat.
“I actually know a portable DEXA scan person that comes in a van, and you lie down,” she shared.
“Each one of my sisters and my mom — we all live in the same gated community — so we have the van drive by, and we all jump in the van, and you just lie down, and it scans your body maybe like three minutes. And it tells you all about your bone density.”
Kardashian also said she undergoes yearly scans with her family and is continuing to explore new wellness tools.
Kim has also been diligent about monitoring her health in recent years. In a November 2025 episode of The Kardashians, she revealed that doctors had discovered a small aneurysm in her brain.
At the time, Kim explained that the aneurysm — a balloon-like bulge in a blood vessel in the brain — could be linked to the stress she had experienced over the years. She said her divorce from Kanye West, the responsibilities of being a single mother of four, her multiple business ventures, and studying law had all contributed to immense stress.
Shortly before that episode aired, Kim also discussed the aneurysm during an appearance on Good Morning America.
“It's just a good measure to go; make sure that you always check everything,” Kim said. “Health is wealth, and you just have to be careful with everything that you do.”
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Persistent back pain is often ignored as a minor issue, but when it continues or worsens over time, it may be a sign of an underlying spinal condition. One such condition is spinal stenosis, which involves narrowing of one or more spaces within the spinal canal.
It can develop due to age-related changes, herniated discs, thickened ligaments, or previous injuries, most commonly affecting the lower back and neck. Since spinal stenosis progresses slowly and symptoms may appear mild at first, early detection becomes crucial to prevent long-term complications, including permanent nerve damage.
In its early stages, spinal stenosis may cause mild discomfort, tingling, or numbness. However, as the narrowing worsens, pressure on the nerves increases. This can lead to chronic pain, weakness in the limbs, and difficulty walking or maintaining balance.
If ignored for a long time, the condition can result in permanent nerve damage. In severe cases, patients may experience loss of bladder or bowel control, a medical emergency that requires immediate attention. Delayed treatment reduces the chances of reversing nerve damage, making early recognition more important.
While occasional back pain is common, certain symptoms indicate something more serious:
Diagnosis of spinal stenosis focuses on identifying the extent of spinal narrowing and its impact on nerve function. It usually begins with a detailed assessment of symptoms and physical movement, followed by imaging tests such as spine X-rays, MRI, and CT scans.
In some cases, a CT myelogram may be advised for a more detailed view of the spinal canal and nerve compression. These tests help confirm the condition, locate the affected area, and determine its severity.
Treatment depends on how advanced the condition is. In the early stages, simple measures are usually recommended, such as regular exercises like walking or stretching, correcting posture, making ergonomic changes in daily routine, maintaining a healthy weight, and avoiding activities that strain the spine.
However, in more severe cases where nerve compression significantly affects daily functioning, certain procedures may be required.
Minimally invasive spine decompression (MISD) is a modern surgical approach designed to alleviate pressure on spinal nerves while preserving as much of the natural spinal structure as possible. Unlike the traditional laminectomy, which often involves significant removal of bone and muscle, MISD focuses on precision and stability.
Spinal fusion joins two or more bones in the spine to improve stability and reduce excessive movement.
Preventing spinal stenosis or slowing its progression involves a combination of lifestyle changes and early care:
Ignoring symptoms can lead to irreversible nerve damage and long-term disability. With early diagnosis, proper lifestyle changes, and expert care, it is possible to manage the condition effectively and maintain a good quality of life.
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