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 GP has warned that people can catch Covid more than once in a short span, including while they are still unwell from a previous infection. In some cases, this may even involve picking up two strains of the virus at the same time, a situation doctors are calling “double Covid”.

Doctor Warns of ‘Double Covid’ as UK Cases Rise

New figures from the UK Health Security Agency show confirmed Covid cases have risen by 11 per cent. In the week leading up to January 9, 51 deaths were recorded and more than 500 people were in hospital with the virus.

Can You Catch Covid Twice at the Same Time?

Speaking to the BBC, GP Dr Nish Manek said it is possible to be infected again while still dealing with ongoing symptoms, including long Covid. She explained that having long Covid does not provide immunity against reinfection.

According to Dr Manek, protection from a previous infection or vaccination reduces over time. New variants are also better at evading the immune system, making repeat infections more likely.

Why Long Covid Does Not Protect You

As a result, someone managing long Covid symptoms may still catch Covid again. A fresh infection can trigger a relapse of symptoms or slow down recovery.

She added that a positive test may reflect either the same strain or a new variant. In both cases, it is still Covid and should be taken seriously.

Vaccines Still Reduce Severe Illness

Dr Manek stressed that vaccination remains important. While vaccines may not fully prevent infection, they significantly reduce the risk of severe illness and hospitalisation.

She said Covid continues to change and remains present in the community. Simple protective steps still matter, including testing when unwell, wearing masks in crowded indoor settings, and staying up to date with vaccinations.

Which Covid Variants Are Circulating Now

Latest Covid Symptoms to Watch For

Doctors say symptoms linked to current variants often affect the upper respiratory tract and can feel similar to a bad cold or flu.

Commonly reported symptoms include a very painful sore throat described as feeling like razor blades, a hoarse voice with swollen glands, blocked or runny nose, sneezing, and extreme tiredness. Fever, a persistent cough, and body aches are still widely seen.

Loss of taste or smell is now reported far less often than during the early stages of the pandemic.

Who Is Eligible for a Covid Vaccine in the UK

The UK has moved to a targeted vaccination approach, focusing on those most at risk of serious illness.

The current winter vaccination programme is coming to an end. The final date to receive this dose is January 31, 2026. You are eligible if you are aged 75 or over, live in a care home for older adults, or are aged six months or older and immunosuppressed due to medical treatment or long-term conditions.

A spring booster programme has been confirmed for 2026. Appointments are expected to open in late March, with vaccinations starting from April 13. Eligibility criteria remain the same as the winter programme.

How To Book Your Covid Vaccine?

Doctors continue to urge those eligible to get vaccinated while doses are still available.

A lace-like pattern appearing on the skin may sometimes point to blocked arteries. Health experts warn that this netted discoloration can, in certain cases, be linked to damage in tissues and organs.

Heart and circulatory diseases remain the leading cause of death worldwide, claiming close to 18 million lives every year. This group includes serious conditions such as stroke, coronary artery disease, and heart failure.

An Unusual Skin Pattern That Could Signal Artery Blockage

In the UK, cardiovascular disease is responsible for around one quarter of all deaths. Because of its scale and severity, recognising warning signs early can save lives.

Most people are familiar with common symptoms like chest pain. What is less widely known is that heart-related problems do not always announce themselves clearly. Some signs are subtle and can appear in unexpected places, including the skin.

What Is Livedo Reticularis?

The American Academy of Dermatology highlights one particular skin pattern that may be linked to heart and blood vessel problems. A blue or purple, net-like discoloration on the skin can sometimes indicate reduced blood flow or a blocked artery.

This condition is known as livedo reticularis. It is believed to occur when small blood vessels near the skin tighten suddenly or when circulation close to the skin becomes uneven.

When the Pattern Is Usually Harmless

In many cases, livedo reticularis is not a cause for concern. Cold temperatures are a common trigger, and the pattern often fades once the skin warms up. Certain medications can also produce this effect without posing a serious health risk.

According to the dermatology body, some people notice the pattern when they feel cold, only for it to disappear as their skin warms. When medication is responsible, it is generally considered harmless.

When It May Point to a Serious Condition

In some situations, the same skin pattern can be linked to a condition known as cholesterol embolisation syndrome. This happens when tiny arteries become blocked by cholesterol particles.

Such blockages can interfere with blood supply and lead to damage in tissues and organs. For this reason, experts stress the importance of medical evaluation to rule out any underlying or undiagnosed disease.

When to See a Doctor

The Mayo Clinic advises seeking medical advice if the mottled skin does not fade with warmth or if it appears alongside other worrying symptoms. You should also consult a doctor if painful lumps or sores develop in the affected area, if you already have a condition that affects blood flow to your limbs, or if you have a connective tissue disorder and notice new skin changes.

Doctors also caution that a similar-looking condition, called livedo racemosa, is more often linked to serious underlying illnesses.

Other Warning Signs of Heart Disease

Skin changes are only one possible clue. Other symptoms linked to heart disease include chest discomfort, pain or weakness in the arms or legs, shortness of breath, irregular heartbeats, dizziness, unusual tiredness, and swelling in the limbs.

If any of these symptoms feel concerning or persistent, it is important to speak to your GP for further advice.

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.