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.”

A Parliamentary Standing Committee on Health and Family Welfare has raised serious concerns about growing doctor burnout, especially among junior and senior resident doctors, and warned that it is now affecting both doctor well-being and patient safety. Noting that overworked doctors are a risk for patient safety, the panel said that fatigue-driven errors and burnout could compromise care.

To tackle this, the committee recommended that the government introduce and strictly enforce a formal “Clinical Duty Hours Regulation” policy. This should mandate fixed rest periods and monitored duty rosters, with oversight mechanisms to prevent violations, stated the panel in its 172nd report presented before the Parliament.

The recommendation comes amid growing concern over long, unregulated shifts in teaching hospitals, where residents often work extended hours with limited rest.

The panel warned that such conditions not only increase the likelihood of clinical mistakes but also contribute to burnout and mental health stress among young doctors.

What The Parliamentary Panel Said

The Panel noted that due to persistent human resource shortages, the working hours of junior and senior residents doctors often stretch from 24 to 36 hours. This increases risk of clinical errors and burnout, thereby compromising patient safety. Thus it recommended a mandatory working-hour regulatory framework:

• to minimize fatigue-induced clinical errors
• safeguard their mental and physical well-being,
• improving patient safety.

However, it noted the contractual engagement must not substitute regular appointments, as excessive reliance on contractual staff may dilute institutional accountability and continuity.

Instead, the panel has recommended adopting a "Total Support model for medical professionals" to attract and retain qualified doctors and specialists in the public health system.

Also read:India Must Integrate Technology To Build Preventive, Holistic Healthcare: Experts

What Is Clinical Duty Hours Regulation policy

The policy calls to:

• Ensure mandatory rest periods, monitored rosters.
• Ensure the presence of senior faculty in wards and in operating theatres during peak hours
• Align faculty schedules with clinical demand
• Offer Structured mentorship
• Protected teaching time for trainees to gain supervised clinical experience
• Improved working conditions, including accommodation, transportation, and administrative support, on par with the facilities afforded to senior civil servants,
• Transparent career progression with time-bound promotions.
• Integrate Yoga and the Indian Knowledge System (IKS) within the workforce to address depression and psychiatric issues.

Also read: Doctors Share Preventable Risk Factors That Can Land You in the Emergency Ward

What Is Burnout?

Burnout is distinct from depression, which influences every aspect of life and often involves persistent thoughts of hopelessness or worthlessness. Burnout typically involves limited manifestations to the work environment, although its impact can resonate into other areas.

Symptoms of Burnout

1. Exhaustion: Prolonged mental and physical depletion of your energy levels.

2. Depersonalization: Cynicism and lack of concern creep into relationships and communication.

3 Reduced Personal Achievement: Your work loses worth, and you may feel you are not up to standards, giving in to frustration and reduced originality.

These signs frequently coincide with physical signs (headaches, muscle pain, sleeplessness), emotional signs (self-doubt, loneliness, unhappiness), and behavioral signs (social withdrawal, outbursts of anger, abandonment of obligations).

Continuing the legacy of football legend Joe Thompson, his wife Chantelle revealed she is pregnant with his baby after IVF treatment using frozen embryos.

Joe Thompson died in 2025 after developing cancer for a third time - beating the illness twice.

But after the former Manchester United star was diagnosed with Hodgkin Lymphoma for a third time, which had spread to his lungs, he died aged 36.

"It just means absolutely everything. I know it's never going to replace Joe obviously. Joe's Joe. But to be able to bring his baby into the world again is beautiful," Chantelle said.

She said Joe had two visions of their family with a baby boy before he died, and he even gave her the name for the baby boy he predicted, and she got pregnant on her first attempt of IVF after he had died.

How Egg Freezing Works

Egg freezing, also known as oocyte cryopreservation, is an option that has gained significant traction in recent years. It offers women the ability to pause their biological clock and preserve the possibility of having children in the future.

Egg freezing takes a woman's unfertilized eggs from her ovaries and stores them at sub-zero temperatures to be utilized later. It is made to enable women to keep their fertility intact, especially if they are not yet ready to have a baby.

Dr. Pavithra M, Obstetrician, Gynecologist, and Infertility Specialist, told HealthandMe that the workup begins with hormone workup and evaluation of various parameters, such as age, body mass index (BMI), and ovarian reserve.

"On the second day of the menstrual cycle, baseline ultrasound scanning is performed to assess the number of follicles; thereafter, various tests of blood are conducted to assess hormone levels. If a woman's parameters are all normal, then she is administered hormonal injections for about 10-12 days."

It causes ovarian hyperstimulation and multiple mature eggs, monitored through ultrasound scans. A trigger shot is administered once the follicles have reached optimal size to help with final egg maturation. It takes 34-35 hours from the trigger shot, wherein eggs are retrieved by minimally invasive procedures under general anesthesia.

"Using a transvaginal ultrasound probe with a needle, each follicle is punctured, and the follicular fluid is aspirated. The retrieved eggs are then screened for quality before undergoing vitrification—a rapid freezing technique that minimizes ice crystal formation and cellular damage," Dr. Pavithra added. The eggs are then stored in liquid nitrogen tanks for long-term preservation.

While egg freezing is possible at various stages of life, experts recommend doing it at an optimal age -- in the late 20s or early 30s when the eggs are of higher quality-- for better outcomes.

Annabelle Gurwitch, an American author, actress, and television host, has opened up about her lung cancer diagnosis in her new memoir.

In her sixth book, ‘The End of My Life Is Killing Me’, Annabelle Gurwitch offers a satirical take on her journey with stage 4 lung cancer. The best-selling author found out about her cancer status in 2020, when she went for a COVID-19 test.

In the book, Annabelle Gurwitch writes about her life as a "cancer slacker", her divorce, treatment with a targeted therapy that turns off the gene that has gone rogue, radiation, and chemotherapy, all with a humorous take.

Lung Cancer: A Stealthy Disease, Says Annabelle Gurwitch

Notably, the American actress had no symptoms and was not a smoker. She went to get her “persistent little cough” tested for COVID, when a doctor told her that there was something suspicious on her lungs.

Soon after, an X-ray and a biopsy confirmed her diagnosis of stage 4 cancer.

Annabelle Gurwitch called lung cancer a “stealthy disease" as, other than her little cough, she exercised every day and felt like she was in really good health.

“You know, you can be asymptomatic with Stage 4 lung cancer because lung cancer is a really stealthy disease, and this is why it's such a big killer, still the No. 1 cause of cancer deaths, because some lung cancers, like the one I have, are not recognized by the immune system," Annabelle Gurwitch told NPR.

"So my body didn't know that it was - anything was happening, which is, I mean, I was going to regular doctor's appointments. And this is why it's often diagnosed at a late stage, and such a big killer because it's not diagnosed at an earlier stage,” she added.

Also read: Early-Stage Lung Cancer Surgery Safe, Effective Even After 80, Reveals Lancet Study

Can Non-Smokers Get Lung Cancer?

Contrary to long-held assumptions, a significant proportion of lung cancer cases now occur in people with no history of smoking. The American Cancer Society reports that approximately 10-20 percent of lung cancers in the U.S are found in non-smokers, often attributed to genetic mutations like EGFR, environmental exposures, or radon gas.

These cases are more common in women, younger adults, and individuals of East Asian descent, but they can affect anyone.

Also read: New AIIMS Study To Probe How PM2.5 Is Surging Lung Cancer Risk In India

Early Signs and Symptoms to Look Out For

Lung cancer symptoms can mimic less serious conditions, which is why they’re often dismissed or misdiagnosed. If you experience the following symptoms persistently, don’t ignore them—regardless of your age or smoking history:

• Chest pain or discomfort
• Unexplained shortness of breath
• Persistent cough or wheezing
• Shoulder, back, or rib pain
• Fatigue or sudden weight loss
• Blood in sputum (though not always present).