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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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GLP-1 drugs such as Ozempic, Wegovy, Mounjaro and liraglutide, best known for regulating appetite and aiding weight loss, may also help reduce symptoms of binge eating disorder (BED), which affects more than 17 million people worldwide, according to a new study.
The systematic review and meta-analysis, published in the journal eClinicalMedicine, found that GLP-1 drugs, with semaglutide as its key ingredient, reduced binge eating episodes, loss-of-control eating and emotional eating, highlighting their potential role in treating binge eating disorder alongside obesity.
Binge eating disorder affects over 17 million people globally, and around two-thirds of people with the condition also live with overweight or obesity. It is also common among individuals seeking weight-loss treatment.
"Binge eating disorder, where people regularly eat an excessive amount of food while feeling they have lost control, is common and highly impairing, affecting over 17 million people worldwide," said lead author Dr Ilaria Costantini from the Psychiatry Department at University College London (UCL), UK.
"But treatment options are limited and there are currently no approved medications, so there remains a need for better ways to help people living with this condition. We found evidence that weight loss drugs may help to manage some key symptoms of binge eating disorder," Costantini added.
Also read: Babies Without Vitamin K Shot At Higher Risk Of Brain Bleeding: Study
The researchers analyzed 25 randomized controlled trials conducted across 12 countries on four continents, involving 8,069 participants.
The trials evaluated GLP-1 drugs that target the appetite-regulating hormone GLP-1, including semaglutide (marketed as Ozempic or Wegovy), tirzepatide (Mounjaro) and liraglutide.
These medications suppress appetite by acting on the central nervous system and insulin secretion, delay stomach emptying, and may also influence brain pathways involved in reward and impulse control.
Compared with placebo or other treatments, people taking GLP-1 drugs reported:
Read More: Obesity-Driven CKM Syndrome A Growing Public Health Threat, Warns American Heart Association
The researchers also found that participants taking GLP-1 drugs reported greater cognitive or dietary restraint, meaning they made more deliberate efforts to limit what they ate.
The benefits extended beyond weight loss, with improvements seen in several behaviors associated with binge eating disorder.
While increased dietary restraint was observed, the researchers cautioned that it remains unclear whether this represents healthy self-regulation or a more rigid, potentially harmful eating pattern that could worsen binge eating over time.
"From the evidence available, we cannot say whether the increase in dietary restraint reflects a positive and helpful form of self-regulation or if it is a more dysfunctional pattern of eating. We hope that future research can clarify whether or not taking weight loss drugs might contribute to more pathological forms of eating restriction such as meal skipping," said Izzy Emptage from UCL Psychiatry.
The researchers said GLP-1 drugs could become an important addition to treatment plans for binge eating disorder when used alongside psychological therapies and social support.
However, they also highlighted important limitations. Most of the studies included in the review had a high risk of bias, were funded by pharmaceutical companies, and rarely included participants with a clinical diagnosis of binge eating disorder, reducing the certainty of the findings.
"GLP-1s may offer a promising additional treatment option for people living with both binge eating and obesity," the researchers said, while stressing that these drugs "should not be viewed as a standalone solution to binge eating disorder."
They added that larger, independently funded clinical trials are needed before these medications can be routinely recommended for treating binge eating disorders.
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What if staying younger has less to do with expensive anti-aging products and more to do with spending time appreciating the culture. A new study suggests that regular cultural outings may be linked to slower biological aging.
Expect an unexpected addition to the list of healthy lifestyle habits. Researchers recently found that older adults who frequently visited museums, theaters, cinemas, concerts, and art galleries physically functioned as if they were about three years younger than those who didn’t take part in such activities.
Published in the Journal of Epidemiology and Community Health, the researchers say that cultural interaction appears to be associated with a younger physiological age, although the study does not prove that cultural activities directly contribute to slow aging.
The study analyzed data from 1,899 adults aged 50 years and older who participated in the English Longitudinal Study of Ageing. Participants reported how often they:
Researchers also assessed 10 health indicators, including:
These measures were combined to ascertain each participant's physiological age.
People who participated in cultural activities every few months or more had an average physiological age of 66.9 years, compared with 69.9 years among those with lower levels of cultural engagement, a difference of roughly three biological years.
The researchers also found that every one-point increase in a person's cultural engagement score was associated with approximately a 31-day reduction in physiological age, even after accounting for income, employment, and chronic health conditions.
Although the study wasn't designed to identify a direct cause, the researchers suggest several possible explanations that can help reduce biological age. Cultural activities may help:
Interestingly, the researchers noted that the association between cultural engagement and slower aging was comparable to the benefits seen with frequent physical activity, highlighting that healthy aging may involve much more than exercise alone.
The latest findings add to a growing body of research suggesting that spending time on cultural activities may benefit both the brain and the body as people age.
Previous studies have found that older adults who regularly visit museums, art galleries, theaters, concerts, and similar cultural spots may have a lower risk of dementia, experience slower cognitive decline, and even live longer than those who rarely engage in such activities.
For example, a 2019 study published in The BMJ reported that adults over 50 who participated in cultural activities every few months or more had a 31% lower risk of death during a 14-year follow-up compared with those who never took part.
Another study from University College London found that frequent museum visits were associated with a reduced risk of developing dementia over the following decade.
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The growing trend of medical tourism or cosmetic tourism has become increasingly popular in the age of social media. The dramatic before-and-after results, the thrill of returning home with a new look, and a quenched wanderlust have only contributed to this trend.
While the appeal is evident, we cannot help but ignore the risks and complications one can face while traveling overseas for a cosmetic procedure. On World Plastic Surgery Day, take a look at what you are in for if you are planning to fly off for a procedure.
One of the biggest reasons why people travel abroad for cosmetic procedures is the cost. Procedures like liposuction, tummy tucks, breast enhancement, rhinoplasty, and dental veneers can cost almost 30% to 70% less in some countries than in the United States, United Kingdom, or Australia.
Many cosmetic packages also come with other attractive deals like luxury recovery packages, airport transfers, and hotel stays, combined vacation and surgery experiences, among others.
For some patients, these deals make cosmetic procedures more affordable and convenient. However, lower prices do not always necessarily mean lower quality. But the concern is that patients do not adequately evaluate the standards of clinics before they travel.
Also read: Plastic Surgery Myths Debunked: Experts Explain Cosmetic vs Reconstructive Surgery
Here are some risks and complications that one ought to be aware of before booking those flight tickets.
Patients who fly home too soon may experience wound breakdown, excessive swelling, or bleeding that requires urgent medical attention.
Dr Banodkar says, “Unqualified practitioners, who perform these procedures, may not be adequately trained; they might cause a permanent scar on the skin, or they might even cause a simple infection of the skin that can result in sepsis.”
Every surgery carries the possibility of asymmetry, scarring, implant problems, or the need for revision surgery due to unqualified or unskilled practitioners. This could incur hidden costs of corrective surgeries.
Dr. Pravin Banodkar, Consultant Dermatologist, Saifee Hospital, Mumbai, told HealthandMe, “There are hidden costs of any corrective treatment which can obviously be much more than what is actually spent for the procedure.”
Many cosmetic procedures require multiple follow-up visits, wound checks, suture removal, and monitoring complications.
Patients returning home shortly after surgery may have limited access to the operating surgeon. Local doctors may also be unfamiliar with the exact techniques or implants used, making management more challenging.
Also read: How Reconstructive Plastic Surgery Transforms Lives After Trauma And Cancer
Dr Banodkar explains, “Many times, the people who are not trained don't know how to manage complications, and as a result, they are unable to diagnose the problem. Due to this, the adverse effects of the procedure will only increase.”
If complications occur, seeking compensation or legal action across international borders can be difficult and expensive, as medical regulations, malpractice laws, and patient protections vary widely between countries.
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