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.”

Students gaming more than 10 hours a week can have long-lasting negative effects on their physical and mental health, a new Australian study suggests.

Researchers from Curtin University, Perth have found that playing online games for over 10 hours can worsen diets, increase body weight and led to poorer sleep than lighter gamers.

Professor Mario Siervo, Curtin School of Population Health said of the results: "What stood out was students gaming up to 10 hours a week all looked very similar in terms of diet, sleep and body weight. The real differences emerged in those gaming more than 10 hours a week, who showed clear divergence from the rest of the sample."

What Did The Study Find?

Researchers surveyed 317 students across five Australian universities, with a median age of 20, to understand how time spent gaming each week might affect their diet, sleep, and body composition.

Students were categorized as low gamers (zero to five hours a week), moderate gamers (five to 10 hours) or high gamers, who played video games for more than 10 hours each week.

They found that low and moderate gamers showed largely comparable health outcomes but health indicators deteriorated sharply among students whose gaming time exceeded 10 hours a week.

The study found diet quality declined and obesity was more common once gaming exceeded 10 hours a week, with each extra hour linked to poorer diets even after accounting for other lifestyle factors. While high gamers recorded a body mass index (BMI) of 26.3kg/m2, low and moderate gamers fell within a healthier range, with median BMIs of 22.2kg/m2 and 22.8kg/m2 respectively.

Professor Siervo said: "Each additional hour of gaming per week was linked to a decline in diet quality, even after accounting for stress, physical activity and other lifestyle factors."

Additionally, sleep quality was generally poor across all groups but students who played video games for moderate or high amounts of time reported worse sleep than low gamers.

Despite clear results, the expert added that the study does not prove cause and effect but shows excessive gaming is linked to higher health risks, while low to moderate play appears largely fine.

Why Is Playing Video Games Bad For You?

"Our data suggests low and moderate gaming is generally fine, but excessive gaming may crowd out healthy habits such as eating a balanced diet, sleeping properly and staying active.

"Because university habits often follow people into adulthood, healthier routines such as taking breaks from gaming, avoiding playing games late at night and choosing healthier snacks may help improve their overall well-being," Professor Siervo said.

Playing video games for excessive amount of time has also been linked to paving the way for mental health problems such as anxiety, depression, aggression and poor emotional control as well as social/life problems including neglecting responsibilities, isolation, poor relationships, academic/career impact.

Moreover, previous research has also found that playing games for over three hours straight significantly raises the risk of physical issues. Sessions exceeding this time frame can lead to eye fatigue, headaches, neck pain and wrist pain, regardless of the player's age or gender.

This study was published in Nutrition on January 16.

Days after eagle-eyed fans spotted Nick Jonas stepping out of the Golden Globes during the Nikki Glaser-hosted show in Los Angeles, the popstar has now revealed what led to him there.

In an X video from January 11, Jonas was seen standing alone outside of a tent at the Beverly Hilton hotel surrounded by palm trees and green foliage, looking like he was taking a breather while sipping from a glass bottle of water and rubbing his chin.

As the clip began to go viral online, users shared their guess on why he had to exit the ceremony, commenting, "Social anxiety got the best of him." Soon after, he did reveal that he anxiety had "hit him like a gut punch" on X.

Living with Type 1 diabetes, Jonas has previously spoken about the emotional challenges of managing a chronic condition and how it has affected his life.

What Is Social Anxiety?

As explained by Dr Sanil Sinhasan, Consultant Psychiatrist at Mind Care Clinic and SRV Hospital, Mumbai, to Health Shots: "Social anxiety disorder is an intense fear of being judged, rejected, or embarrassed in social or performance situations.

"People with social anxiety often worry excessively about how they look, speak or are perceived by others."

This kind of anxiety is typically triggered by meeting new people, public speaking or even everyday interactions like eating in public, stemming from fears of negative evaluation by others.

Symptoms include blushing, sweating, trembling, rapid heartbeat, nausea, dizziness, trouble speaking, stomach issues. If left untreated, social anxiety can become debilitating as it can also cause fast, shallow breathing, muscle tension, suffocation, symptoms that can intensify anxiety further and lead to serious medical events.

How To Overcome Social Anxiety?

Professional therapies such as Cognitive Behavioral Therapy (CBT) and medication such as antidepressants (SSRIs/SNRIs) can offer deeper solutions for managing fear and building skills.

Regular physical activity can also help release endorphins and reduce tension as well avoiding excess caffeine can support mental health.

Mental health experts also recommend opening up to loved ones and avoiding isolation. Speaking to loved ones and sharing how you’re feeling can help ensure your current state doesn’t aggravate.

Doctors also advise speaking therapist if social anxiety significantly impacts your life as professional help is crucial for lasting change.

Wondering if abnormal bleeding, pelvic pain and leg swelling are signs of something fatal?

According to Dr Ninad Katdare, Consultant Surgical Oncologist, Jaslok Hospital & Research Centre, they may be symptoms of cervical cancer. While many may expect drastic signs such as severe pain, heavy bleeding or obvious illness, identifying certain symptoms can help with early diagnosis and treatment.

Cervical cancer develops in a women's cervix (uterus opening) due to abnormal cell growth, primarily caused by persistent HPV infection, a common infection that's passed through sexual contact.

When exposed to HPV, the body's immune system typically prevents the virus from causing damage however, in a small percentage of people, the virus can survive for years and pave the way for some cervical cells to become cancerous.

Treatment involves surgery, radiation, and chemotherapy, with early detection significantly improving outcomes, though it remains a major cancer in low-income countries. Cervical cancer can also be prevented through vaccination and regular screening (Pap/HPV tests).

Dr Katdare told News18: "In its early stages, it is often more of a whisper than a shout. As a cancer surgeon who has treated hundreds of women with gynaecological cancers, I can say with confidence that recognising these subtle cues can lead to earlier diagnosis and significantly better outcomes."

He recommends looking out for these early signs:

1. Intermenstrual Bleeding

2. Changes In Vaginal Discharge

But Dr Katdare warns that any sudden or abnormal changes in discharge may be a symptom of the cancer. “Because discharge issues are commonly linked to infections, many women self-medicate or delay seeking care," he said. “While infections are far more common, chronic or unusual discharge especially in older women requires thorough evaluation."

Discharge may become persistent, watery, foul-smelling, or tinged with blood or pink, brown, or rust-colored if you're suffering from this kind of cancer.

3. Persistent Pelvic Pain

Consistent pelvic pain particularly that occurs outside the menstrual cycle or during sexual intercourse should be a point of concern. According to Dr Katdare, "Pain during intercourse, or dyspareunia, is especially important. It should not be dismissed as ‘just dryness’ or an age-related change. In cervical cancer, this pain may result from inflammation or tumour growth involving the cervix and surrounding tissues."

4. Leg Swelling

5. Urinary And Bowel Symptoms

“These symptoms are often evaluated in isolation because they don’t seem related to the cervix," said Dr Katdare, “which can delay the correct diagnosis."

Ultimately the expert advised: "“Cervical cancer does not always announce itself loudly,. Sometimes, it leaves silent clues. The sooner you listen to them, the better the outcome. If something feels ‘off,’ trust that instinct and seek medical advice. Early action can make the difference between a curable disease and a life-altering diagnosis."