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 diagnostic report from Madhya Pradesh’s Satna district has sparked shock and concern after it incorrectly stated that a 47-year-old man had a uterus. The incident has raised serious questions about negligence and accuracy in medical testing.

The report was issued to Niranjan Prajapati, chairman of the Uchehra Nagar Panchayat, who had gone for a sonography after experiencing abdominal pain and swelling. Instead of clarity about his condition, he received a report that appeared to describe female reproductive organs, including an inverted uterus.

How the Error Came to Light

Prajapati underwent the ultrasound at a diagnostic center on Station Road in Satna on January 13. Initially, he did not closely examine the report and followed the prescribed treatment. However, when his condition did not improve, he sought further medical advice.

“I was sick and had stomach pain. I first got treatment in Unchahara and then went for sonography in Satna,” Prajapati said. “I did not pay much attention to the report at first and took medicines, but there was no relief.”

He later visited a doctor in Jabalpur, where the mistake was clearly identified. “The doctor told me straight that this report cannot belong to me,” Prajapati recalled. “I said the report has my name on it, but it mentioned a uterus. That is when I realized something was seriously wrong.”

Questions Over Diagnostic Negligence

The report not only listed a uterus but also described its position, despite the patient being male. Medical experts say such an error goes far beyond a minor clerical mistake.

A senior doctor, speaking on condition of anonymity, said incorrect diagnostic reports can have serious consequences. “A wrong sonography report can mislead treatment, cause unnecessary stress to the patient, and in some cases become life-threatening if doctors act on false findings,” the expert said.

Attempts to seek clarification from the diagnostic center did not yield answers. Dr Arvind Saraf, associated with the facility, declined to comment on the incident, adding to concerns about accountability and quality checks.

Complaint Filed, Health Department Responds

Following the incident, Prajapati filed a formal complaint at the local police station. The matter has also been taken up by the Health Department.

Chief Medical and Health Officer of Satna, Dr Manoj Shukla, confirmed that an investigation is underway. “This complaint has come to my notice. We are examining the report thoroughly. If any irregularity or negligence is found during the investigation, appropriate action will be taken,” he said.

Officials are expected to review how the report was generated and whether standard diagnostic protocols were followed.

What Is Sonography?

Sonography, also known as ultrasound, is a commonly used imaging test that uses sound waves to create images of internal organs. It does not involve radiation and is generally considered safe. However, experts stress that accuracy and proper verification are crucial, as reports directly guide diagnosis and treatment.

The incident has once again highlighted the need for stricter checks and accountability in diagnostic services, especially when errors can directly affect patient health and trust in the medical system.

Josie Gibson, English TV personality, opened up about her secret health disorder and that she is turning to a "last resort" surgery for the same. She revealed that this health challenge has left her with extreme pain. This Morning presenter, 40, appeared on the show and spoke to Cat Deeley and Ben Shephard about being diagnosed and having a "lipodema" body. She said, "A couple of years ago somebody actually said on Instagram, 'you have got a typical lipodema body'. I thought, 'what's lipedema?'"

She said she did not even have a clue, but she knew something was not right. But she did not know what lipedema was. She got diagnosed about a year ago and had a surgery. She told her fans that she has been "constantly fighting" her genetics.

What Did Josie Gibson Reveal About The Surgery?

Speaking on ITV’s This Morning, Gibson said surgery was a “last resort” but described herself as happy with the results after spending around £7,000 on liposuction to treat her calves. She explained that the procedure, which combines liposuction with a technique that tightens the skin, had to be carried out in stages.

“The last thing I want to do is put myself through surgery, but it was my last resort,” she said, adding that she had only treated her calves so far. Gibson said the change in her appearance had been significant, telling viewers: “All my life I have wanted to have ankles. I’ve finally got them.”

What Is Lipedema?

Lipoedema is a condition that mainly affects women and causes an abnormal build-up of fat, most commonly in the legs and sometimes the arms. It can make the lower body appear out of proportion and is often associated with pain, tenderness and a feeling of heaviness.

Gibson said she had always felt something “wasn’t right” with her body but was only diagnosed with lipoedema last September. She said specialists told her that diet and exercise would not remove the affected fat. “They said I could train seven days a week and I wouldn’t get rid of lipoedema fat like that,” she said.

Describing the impact of the condition, Gibson said her legs felt increasingly out of place compared with the rest of her body and that symptoms had worsened over time, now also affecting her arms. “I could train, train and train but really, I’m going down the surgery route now,” she added.

Lipoedema specialist Dr Dennis Wolf, who also appeared on the programme, said the condition is not currently treated on the NHS due to the lack of a formal diagnostic test and limited research. He said doctors often rely on symptoms and patient experiences to identify it and believes some people may have a genetic predisposition.

Dr Wolf explained that lipoedema fat is resistant to weight loss, meaning people can exercise and diet without seeing changes in affected areas. While surgery is the most common way to manage the condition, other treatments include compression garments to help reduce discomfort.

Gibson also shared a light-hearted moment from her surgery, admitting the anaesthetic left her flirtatious and apologetic towards her surgeons.

Fewer people are dying of heart disease, however, as per a new report from the American Heart Association (AHA), it is still the leading cause of death in the US. While the report noted a drop in rates of deaths by heart diseases for the first time in five years, the report also noted that it kills more American than any other condition. The report was published early Wednesday in the journal Circulation.

What Did The AHA Report Reveal?

The report found that annual rates of heart disease deaths have in fact decreased by 2.7% between 2022 and 2023. This means it went from 941,652 to 915, 973. However, cardiovascular diseases still killed more people in the US than cancer and accidents combined.

The report found that deaths caused by blockages in the coronary arteries, the blood vessels supplying the heart, fell by 5.9%, dropping from 371,506 to 349,470 over the same period. Coronary artery disease, a major cause of heart attacks, still claims two lives every three minutes. Other vessel-damaging chronic conditions also remain widespread.

The report found that the share of U.S. adults with high blood pressure edged up to 47.3%, while overall obesity rates dipped slightly to 50%. However, obesity is increasing among children and teenagers, rising from 25.4% to 28.1% in those aged 2 to 19.

Prevention remains the most powerful tool to reduce heart disease deaths, experts say. Because heart disease cannot be cured, waiting for symptoms often means focusing only on treatment rather than stopping the problem early. Early prevention, by contrast, has a much bigger impact on saving lives.

The report highlights four key lifestyle habits for heart health: eating a balanced diet, staying physically active, getting enough sleep and avoiding tobacco. It also stresses four important health measures: managing weight, cholesterol, blood sugar and blood pressure.

Together, these eight factors could prevent up to 40% of heart disease deaths and cut the risk of developing serious heart disease symptoms by as much as 74%. These same habits also benefit the brain, helping slow brain ageing and lower the risk of dementia, especially by keeping blood pressure under control.

Heart Health Is Also an Economic Issue

Cutting down cardiovascular disease in the U.S. would not only help people live healthier lives, it could also ease the strain on the economy, experts say. Heart disease carries a massive financial cost, with an estimated $414.7 billion spent each year on direct treatment and indirect losses between 2021 and 2022.

Even though the benefits of healthy habits are well known, getting people to prioritize heart health remains difficult. Only one in four U.S. adults meets national guidelines for both aerobic and muscle-strengthening exercise. Control of chronic conditions is also lacking, with less than half of Americans with type 2 diabetes managing their disease effectively.

Experts stress that regular physical activity, tailored to individual ability, can make a real difference. Simple, consistent movement and timely health checkups can go a long way in protecting both personal health and the wider economy.