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.”

American stand-up comedian and actress Amy Schumer has opened up on her colonoscopy procedure didn’t go quite as planned.

Speaking at the Not Skinny But Not Fat podcast, the 44-year-old Amy Schumer stated that she’s feeling "happier than I've ever been before," but admitted that she's also been experiencing some struggles.

“I actually had kind of a botched colonoscopy, so I’m not feeling very sexual,” she noted.

Schumer, who filed for an uncontested divorce with her husband of seven years, Chris Fischer, in January, reportedly didn't share any further details.

Previously, the Trainwreck star shared major insight into her health journey over the years—including how her diagnosis with Cushing Syndrome influenced her weight loss journey.

“I didn’t lose 30lbs, I lost 50,” Amy wrote in a post on social media platform Instagram. “Not to look hot which does feel fun and temporary. I did it to survive. I had a disease that makes your face extremely puffy and can kill you but the internet caught it and that disease has cleared.”

Cushing Syndrome is a hormonal condition that causes elevated levels of cortisol, and can cause death if left untreated, as per the National Library of Medicine.

Amy has also spoken of losing weight by using Mounjaro and her physical transformation via plastic surgery.

"I have been working to be pain free and I finally am," she wrote in a November Instagram post. “My endometriosis is better. My back is healing. I no longer have Cushing syndrome so my face went back to normal. I am grateful to be strong and healthy, especially for my son.”

Also read: ‘I Was Vocal About Cancer But Silent About Menopause Out Of Shame’, Says Actress Lisa Ray

What Is A Colonoscopy?

A colonoscopy is a 15 to 60 minute medical procedure that is used to examine the entire inner lining of the large intestine, which includes rectum and colon for abnormalities, such as polyps, inflammation, or cancer.

A doctor uses a colonoscope, which is a thin, flexible tube with a camera to take images, remove polyps, or take issue samples.

Most health experts, including federal guidelines and the American Cancer Society, recommend that people at average risk for colorectal cancer start screening at age 45. This usually means getting a colonoscopy once every 10 years, or opting for stool-based tests every one to three years. These guidelines also play a role in whether insurance companies cover the tests.

Also read: Grey’s Anatomy Star Russell Andrews Opens Up About ALS Diagnosis

Even so, most cases of colon cancer are still diagnosed in people over 50. What’s worrying, though, is the steady rise in cases among younger adults in their 20s, 30s and 40s over the past few decades.

Access to colonoscopies remains a concern, especially in low and middle income countries. Further, screening rates among younger eligible adults remain low. Only about one in five people aged 44 to 49 are up to date with recommended screenings.

Experts say that if the screening age were lowered further, participation might drop even more. For now, the focus remains on improving awareness and encouraging those already eligible to get screened on time.

Feeling anxious, unable to perform well, and feeling burnt out at the workplace is a common problem facing employees slogging for over nine hours every day. But now, a study suggests that taking short vacations every two months can help reduce stress accumulation.

In a 2025 research paper titled “Maximizing Recovery: The Superiority of Frequent Vacations”, Selvaraj Giridharan from the Oncology Department at Tawam Hospital in Abu Dhabi suggests that taking short breaks can help improve mental well-being and boost work performance.

Also Read: Ebola Outbreak: University of Glasgow Researcher Explains Why Bundibugyo Virus Is Concerning

The study argued that instead of a long annual vacation, frequent short breaks are often more effective and help people mentally detach from work. This also helps them recover from burnout faster.

Researchers also found that the positive effects of vacations usually fade within a few weeks after returning to work, making regular breaks important for maintaining emotional balance and productivity.

"We emphasize how regular vacations facilitate recovery and enhance well-being, thereby reducing stress and improving performance. We advocate the integration of frequent breaks into workplace culture through practical strategies for both individuals and organizations," wrote study author Selvaraj Giridharan.

Long Working Hours Can Take A Toll On Mental Health

Also read: Ebola Outbreak: University of Glasgow Researcher Explains Why Bundibugyo Virus Is Concerning

Amid discussions around 70-hour work weeks advocated by industrialists like Narayana Murthy, the study comes as a breather.

The researchers, including experts from the National Health Service, stressed that sustained work-related stress causes significant psychobiological strain. This depletes physiological and psychological resources, manifesting as elevated cortisol levels, cognitive fatigue, and emotional exhaustion.

Without periodic recovery, this strain accumulates, increasing the risk of burnout, reduced productivity, and adverse health outcomes. India has seen several recent cases where workplace stress has affected people’s mental health, with some collapsing at work while others resorted to suicide.

Vacations Linked To Better Mood, Sleep, And Heart Health

Read More: Can Wegovy Improve Survival In Breast Cancer Patients? This Study Suggests It Could

The paper cited a meta-analysis of 22 studies that showed that vacations provide substantial psychological, physiological, and cognitive benefits.

It noted post-vacation reductions in exhaustion, improvements in mood, and increases in life satisfaction among employees.

The findings were found consistent with several studies which identified physiological improvements, including reduced cortisol levels, enhanced heart rate variability, and better sleep quality. These outcomes reflect mitigation of the physiological burden of chronic stress and position vacations as vital health interventions.

The researcher stated that vacations are essential for mitigating the psychobiological impacts of contemporary work and providing psychological, physiological, and cognitive advantages.

Although the duration of vacations is significant, frequent and shorter vacations are more effective in maintaining well-being through regular recovery, they said.

"This evidence-based perspective, rooted in effort-recovery theory, advocates strategic vacation planning by organisations and policymakers to prioritise workforce health. Societies should promote vacation policies that emphasise frequency in order to enhance employee well-being and performance,” the paper said.

In India, poor reproductive health awareness remains one of the most overlooked gaps in women’s healthcare. Many women continue to ignore gynecological symptoms, assuming them to be routine, temporary, or too embarrassing to discuss.

Persistent vaginal infections, irregular bleeding, untreated hormonal disorders, chronic pelvic pain, or recurring inflammation are often dismissed until they become severe. In some cases, these untreated or undiagnosed conditions can silently contribute to long-term health risks, including certain cancers.

The Problem With Partial Awareness

Today, many women have heard of conditions like PCOS, endometriosis, or fibroids. But awareness is often incomplete. Women may know the name of a condition, yet not know its warning signs, complications, or when medical attention is necessary.

For example, prolonged hormonal imbalance, obesity, irregular periods, and chronic inflammation may increase the risk of certain gynecological cancers over time. Similarly, lack of awareness about HPV, cervical screening, and vaccination continues to delay prevention and early diagnosis of cervical cancer.

Fertility awareness is another important gap. Many women are not familiar with their menstrual cycle, ovulation pattern, or normal reproductive changes. When women do not know what is normal for their own body, it becomes harder to recognize when something is wrong.

Social media has added another layer to this problem. While it has improved access to health information, it has also created confusion. Quick tips, unverified remedies, and incomplete advice can delay proper diagnosis and treatment.

The Knowledge Gap That Matters

Reproductive literacy is not just about knowing symptoms. It means understanding one’s body, menstrual cycle, sexual health, fertility, contraception, screening options, vaccination, and access to safe healthcare.

Unfortunately, stigma around sexual and reproductive health still prevents many women from seeking timely care. Symptoms such as abnormal discharge, bleeding after intercourse, pelvic pain, or irregular bleeding are often hidden out of fear, shame, or hesitation.

This delay is especially dangerous in cancers such as cervical, uterine, ovarian, and vaginal cancers, where early evaluation can make a major difference.