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.”

From childhood, many girls are taught to be agreeable, responsible and perfect in everything they do. They are praised for being obedient, hardworking and emotionally controlled. Over time, this expectation can shape behavior in ways that may quietly harm mental and physical health.

This pattern is often referred to as “Good Girl Syndrome”. While it is not a formal medical diagnosis, doctors say the effects of constantly trying to live up to expectations can be very real. The pressure to appear composed and capable all the time can lead to emotional suppression, chronic stress and eventually hormonal disturbances.

To understand how this pressure affects the body, NDTV Health spoke with Dr. Y. D. Meherprasad, Senior Consultant in Endocrinology and Preventive Healthcare at MGM Malar Hospital, Chennai, who says he has observed this pattern among many young women in his clinical practice.

The Hidden Stress Behind Perfection

Good Girl Syndrome describes a behavioral pattern where individuals, often women, feel compelled to meet expectations without showing weakness or stress. This can translate into people pleasing behaviour, fear of conflict and difficulty setting boundaries.

Dr. Meherprasad explains that constantly trying to maintain this image can create a persistent stress response in the body.

“Hormonal imbalances are being noticed in young Indian women associated with the Good Girl Syndrome, where women are always trying to meet expectations and are continuously successful, all without showing any signs of stress,” he told NDTV Health.

According to him, the problem arises when emotions are suppressed for long periods. “When women suppress emotions for long periods, the body remains in a state of constant stress response,” he said.

Emerging research in the field of psychoneuroendocrinology suggests that emotional stress can directly influence hormonal regulation in the body.

The Cortisol Connection

At the centre of this process is cortisol, the body’s main stress hormone. Normally, cortisol rises briefly during stressful situations and then returns to normal levels once the threat passes.

However, when stress becomes constant, cortisol levels can remain elevated for long periods.

Studies have shown that chronic high cortisol can disrupt reproductive hormones. One effect described in research is sometimes called “progesterone steal,” where the body prioritizes producing stress hormones instead of reproductive hormones.

Low progesterone levels can contribute to irregular menstrual cycles, acne and other hormonal symptoms that many young women experience.

Stress, Insulin Resistance And PCOS

Dr. Meherprasad says chronic stress may also contribute to metabolic changes. In some cases, it can mimic or worsen conditions such as Polycystic Ovary Syndrome (PCOS).

When cortisol levels remain high, the body releases more glucose into the bloodstream to provide energy for a perceived threat. If that energy is not used through physical activity, insulin levels rise to regulate blood sugar.

Over time, this can lead to insulin resistance, which is a key factor associated with PCOS. Women may experience abdominal weight gain, irregular ovulation and difficulty managing their weight.

Warning Signs The Body May Be Struggling

The effects of prolonged stress do not appear overnight. They often show up gradually through subtle changes in the body.

Dr. Meherprasad says menstrual irregularities are one of the early warning signs. Some women may experience delayed cycles or even a temporary halt in ovulation.

Sleep disturbances are also common. Many women report difficulty falling asleep because their minds remain constantly active, leading to fatigue the next day.

Other symptoms may include mood swings, persistent anxiety, brain fog and difficulty losing weight despite maintaining a careful diet.

Restoring Balance

Dr. Meherprasad says addressing these hormonal issues requires both medical evaluation and lifestyle changes.

Regular hormone screenings can help detect issues related to thyroid function, insulin levels and reproductive hormones such as LH and FSH. Early treatment is important if conditions such as PCOS or thyroid dysfunction are present.

Equally important is addressing the emotional component of chronic stress.

“Hormonal imbalance is not only physical but also closely linked to emotional health,” said the doctor.

He recommends prioritizing adequate sleep, regular physical activity and practices such as yoga that help calm the body’s stress response. Creating space for emotional expression through journaling or therapy can also help reduce long term stress.

In a culture that often rewards perfection, doctors say it may be time to rethink the idea of the “perfect girl”. Sometimes, protecting one’s health begins with allowing space for imperfection.

Cancer deaths in the United Kingdom have dropped to their lowest recorded levels, according to new data from the charity Cancer Research UK. The figures show that cancer death rates have fallen by 11 per cent in the past decade, reflecting progress in early detection, screening, treatment and prevention.

Researchers estimate that around 247 people in every 100,000 in the UK now die from cancer each year. This is a significant decline from the peak recorded in 1989, when about 355 people per 100,000 died annually from the disease. Overall, that represents a 29 per cent reduction over the past few decades.

Experts say this steady improvement is the result of sustained scientific progress, improved healthcare systems and public health measures that target risk factors such as smoking.

Major Declines In Several Common Cancers

The new data highlights falling death rates across several major cancers. Ovarian cancer deaths have dropped by 19 per cent over the past ten years, up to 2024. Lung cancer deaths have fallen by 22 per cent during the same period, reflecting the long-term impact of reduced smoking rates and better treatment options.

Deaths from stomach cancer have seen one of the most dramatic improvements, dropping by 34 per cent in the past decade. Bowel cancer deaths have decreased by six per cent, while breast cancer deaths have fallen by 14 per cent.

Other cancers have also seen notable declines. Cervical and prostate cancer deaths have both dropped by 11 per cent. Deaths from leukemia are down by nine per cent, while esophageal cancer deaths have fallen by 12 per cent.

Experts say improved diagnosis, new therapies and better awareness are playing a key role in these trends.

Screening And Vaccination Making A Difference

One of the biggest public health successes has been the decline in cervical cancer deaths. Since the 1970s, deaths from cervical cancer have fallen by around 75 per cent in the UK. Health experts attribute much of this progress to the national cervical screening programme run by the NHS.

Screening helps detect abnormal cells early, allowing treatment before cancer develops or spreads.

Another major contributor is the human papillomavirus vaccine, commonly known as the HPV vaccine. The vaccine protects against the virus responsible for most cervical cancer cases. It is routinely offered to schoolchildren in the UK, and since its introduction in 2008, at least 6.5 million young people have received it.

Public health experts believe the vaccine will continue to reduce cervical cancer rates in the coming decades.

Some Cancer Death Rates Still Rising

Despite the overall progress, the data also shows worrying increases in deaths from certain cancers. Gallbladder cancer deaths have risen by 29 per cent, while deaths from eye cancer have increased by 26 per cent.

Liver cancer deaths are up by 14 per cent, and kidney cancer deaths have risen by five per cent. Meanwhile, death rates for thyroid cancer, pancreatic cancer and melanoma have remained largely unchanged.

Another important trend is that the total number of people dying from cancer continues to rise. This is largely due to population growth and an ageing population, as cancer risk increases with age.

Calls For More Research And Clinical Trials

Experts say the long-term decline in cancer deaths reflects decades of medical research and innovation. However, they stress that continued investment is necessary to sustain progress.

Cancer Research UK researcher Dr Sam Godfrey said the figures show the impact of scientific breakthroughs over many years. He has called on the government to support more clinical trials and ensure that NHS staff have enough time and resources to take part in life saving research.

Public health policies such as smoking bans, along with screening programmes and vaccines, are also credited with helping drive down cancer deaths across the country.

Are you in the habit of catching up on social media or news updates while sitting on the pot? A new study shows you may be "unintentionally" spending extra time and increasing your risk of developing painful hemorrhoids by 46 percent.

The study, published in the open-access journal PLOS One, explained that getting distracted by news or social media can increase pressure on sensitive anal tissues, which leads to hemorrhoids.

Hemorrhoids, also called piles, are swollen and inflamed veins around your anus or in your lower rectum.

"Using a smartphone while on the toilet was linked to a 46 percent increased chance of having hemorrhoids. We're still uncovering the many ways smartphones and our modern way of life impact our health,” Trisha Pasricha, from the Beth Israel Deaconess Medical Center in the US.

“It's possible that how and where we use them -- such as while in the bathroom -- can have unintended consequences," she added.

For the study, the researchers examined data from colonoscopies of 125 adults in America, and conducted an online survey to understand their lifestyle habits and behavior while using the toilet.

Two-thirds of the participants reported using their smartphones while on

the toilet. Compared with those who did not, endoscopists found that they had a 46 percent higher risk of hemorrhoids.

Longer Toilet Time And Mobile Scrolling

More than a third of bathroom smartphone users reported spending more than five minutes there during a single visit -- reading news (54.3 percent), or browsing social media (44.4 percent).

In comparison, just 7.1 percent of non-users reported staying that long.

"Smartphone use may unintentionally extend the time people spend sitting on the toilet. Sitting for longer periods could increase pressure on tissues in the anal region, which may contribute to the development of hemorrhoids,” the researchers said.

Pasricha suggested individuals leave smartphones outside the bathroom to understand the actual time it takes for a bowel movement.

"If it's taking longer, ask yourself why. Was it because having a bowel movement was really so difficult, or was it because my focus was elsewhere?" she said, calling for more studies.

Hemorrhoids: The Symptoms, Risk Factors

Studies estimate that hemorrhoidal disease affects 40% of people all over the world, and it is one of the most common diseases in the anorectal region.

The two types of hemorrhoids are:

• external hemorrhoids -- under the skin around the anus
• internal hemorrhoids -- in the lining of the anus and lower rectum

• bright red rectal bleeding during bowel movements,
• anal itching or irritation, pain or discomfort (especially while sitting),
• swelling or hard, tender lumps around the anus

• straining during bowel movements
• sitting on the toilet for too long
• chronic constipation or diarrhea
• eating low fiber foods
• older age >50
• pregnancy
• lifting heavy objects

• consume 25-35g of fiber daily,
• drink 6-8 glasses of water,
• avoid straining,
• limit toilet time to under five minutes
• do not delay bowel movements,
• maintain hygiene.