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.”

Even a mild case of COVID-19 may trigger long-lasting eye problems, with new research revealing that persistent inflammation and nerve damage could be responsible for symptoms that standard eye tests often fail to detect.

The study, led by researchers at Linköping University in Sweden and published in Nature Communications, sheds light on why some COVID-19 survivors continue to experience debilitating vision issues months or even years after infection.

The research began after people who had recovered from mild COVID-19 sought medical help for persistent eye complaints. Many reported:

• Severe eye pain
• Light sensitivity (photophobia)
• Difficulty reading and focusing
• Extreme eye fatigue

Many participants said the condition significantly disrupted their daily lives, preventing them from working or continuing their education.

What the Study Found

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Researchers evaluated 100 people who developed eye problems after mild COVID-19 but had never been hospitalized. Their symptoms had persisted anywhere from three months to three years.

The findings were compared with those of 32 people who had recovered from mild COVID-19 without developing eye symptoms.

Using advanced imaging and laboratory techniques, researchers identified several abnormalities that conventional eye exams failed to detect.

Persistent Inflammation and Nerve Damage

The study found evidence of:

• Long-term inflammation in the eyes
• Damage to nerves controlling multiple eye functions
• Abnormal immune activity involving T cells
• Changes in proteins found in tear fluid

Lead author Petros Moustardas, senior research associate at Linköping University, said the findings indicate that COVID-19 may trigger a severe immune reaction in the eyes, resulting in chronic inflammation and nerve dysfunction.

Why Light Sensitivity Happens

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One of the most common complaints among participants was extreme sensitivity to light. Researchers found that their pupils were allowing too much light into the eyes because of impaired nerve control.

This abnormal pupil function was also associated with:

• Headaches
• Difficulty reading
• Trouble maintaining focus

An Unusual Eye Movement Disorder

The study also identified impaired coordination between the two eyes.

Some participants developed adult-onset strabismus—commonly known as crossed eyes—a condition that is rare in adults.

Researchers believe this occurred because COVID-19 affected the nerves responsible for controlling eye muscles.

A New Way to Diagnose COVID-Related Eye Problems

Because routine eye tests often miss these abnormalities, the research team developed two diagnostic models.

The first relies on specialized ophthalmic tests available at advanced eye clinics, while the second combines these examinations with tear fluid protein analysis to improve diagnostic accuracy.

Researchers hope these models will help doctors recognize COVID-related eye syndrome earlier and pave the way for future treatments.

"We found that the problems experienced by those affected were not detectable by standard tests. We had to perform specialised examinations to detect deviations. The puzzle pieces then fell into place, and we found explanations for the symptoms," said Neil Lagali, professor of experimental ophthalmology at Linköping University.

He added that while the findings provide important clues about how COVID-19 affects the eyes, more research is needed to develop effective treatments for those living with persistent vision problems.

Cardiovascular-kidney-metabolic (CKM) syndrome is emerging as a major public health threat, according to new guidelines from the American Heart Association (AHA), which identify obesity as a key driver of the condition's development and progression.

The guidelines, jointly issued by the AHA and the American College of Cardiology (ACC), reframe excess weight as more than a number on the scale, describing it as a significant health risk closely linked to diabetes, chronic kidney disease and cardiovascular disease.

According to the AHA, nearly 9 in 10 adults in the United States have at least one condition associated with CKM syndrome. These include high blood pressure, abnormal cholesterol and other lipid disorders, high blood sugar, reduced kidney function and excess body weight.

With obesity rates continuing to rise, the guideline urges healthcare professionals to have prevention-focused conversations with patients about maintaining a healthy weight to reduce the risk of future heart, kidney and metabolic diseases.

“CKM syndrome is a real, rising public health threat,” said Chiadi E. Ndumele, an American Heart Association volunteer and chair of the writing committee for the new guideline.

“In terms of CKM health, weight is not just about a number on a scale — people with the same body weight can have very different health profiles. Rather, what’s most important is how fat tissue affects your metabolic health. This includes how your body manages blood sugar levels and how fat is used and stored,” Ndumele, who is also director of obesity and cardiometabolic research at Johns Hopkins University in Baltimore.

The New CKM Syndrome Guideline

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The updated guideline replaces the 2013 recommendations for managing overweight and obesity. CKM syndrome itself was first formally defined by the American Heart Association in 2023.

The guideline highlights several strategies to improve the prevention and treatment of CKM syndrome:

• Use the Predicting Risk of Cardiovascular Disease EVENTs (PREVENT) equations to estimate 10-year and 30-year cardiovascular disease risk. Unlike previous tools, PREVENT incorporates kidney and metabolic health factors for a more comprehensive risk assessment.
• Screen patients for social determinants of health, including food insecurity, housing instability and financial strain, which can increase the risk of CKM syndrome.
• Promote coordinated, multidisciplinary care focused on healthy lifestyle behaviors, including physical activity, nutrition, weight management, blood pressure control, blood sugar management and cholesterol reduction.
• Alongside lifestyle interventions, use medications and surgical therapies when appropriate to manage blood pressure, cholesterol, blood sugar and obesity while protecting heart and kidney health.
• For the first time, the guideline recommends GLP-1-based therapies for select individuals with obesity and/or Type 2 diabetes who are at elevated cardiovascular risk. Metabolic and bariatric surgery is also recognised as an effective treatment option for eligible patients.

How Can CKM Syndrome Be Prevented?

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The guideline emphasizes that early lifestyle changes can significantly reduce the risk of heart attack, heart failure, stroke and kidney failure.

People are encouraged to follow the AHA's Life's Essential 8, which promotes

• regular physical activity,
• a heart-healthy diet,
• maintaining a healthy weight,
• controlling blood pressure,
• maintaining blood sugar
• better cholesterol control,
• avoiding tobacco,
• getting sufficient quality sleep.

The monsoon brings welcome relief from the heat, but it also creates conditions that make infections spread more easily among children. Parents should understand that a few common household mistakes can increase the risk of illness in children during this time of year. So, parents must exercise caution and take utmost care of their children during those rainy days.

Why Monsoon Raises Infection Risk in Children

The arrival of the monsoon often means more time spent indoors for children, muddier surroundings, and increased exposure to germs. So, the main focus of parents is on protecting their children from rain and cold weather. However, parents must understand that certain everyday habits at home may unknowingly increase the risk of respiratory infections, stomach illnesses, and mosquito-borne diseases.

Common Mistakes Of Infections In Children

So, many children can get drenched during those heavy rains and remain in wet clothes or footwear for long periods after returning from school or outdoor activities. Damp socks and shoes can create an environment where germs and fungal infections thrive. Parents should ensure that children change into dry clothes and footwear as soon as possible. Moreover, stagnant water collected in flower pots, buckets, coolers, balconies, and outdoor containers can become breeding grounds for mosquitoes, raising the chances of dengue, malaria, and chikungunya in children.

Many families keep doors and windows closed throughout the day to prevent rainwater from entering the house. However, limited air circulation can lead to the growth of mold, dampness, and indoor allergens, which may trigger respiratory infections, coughing, wheezing, and allergies in children. Even having uncovered food, improperly stored leftovers, or contaminated water can increase the risk of stomach infections, diarrhea, vomiting, and food poisoning in children.

Tips Parents Should Follow During the Monsoon

Parents should ensure that the child changes wet clothes, socks, and shoes immediately after returning home. Parents should empty and clean containers that can collect stagnant water from time to time. Use mosquito nets, screens, and child-safe mosquito repellents to prevent mosquito bites. Keep rooms well ventilated whenever the weather permits. The child should follow good hand and personal hygiene, eat freshly cooked food, and drink safe drinking water.

The parents should ensure to wash fruits and vegetables thoroughly before consumption. The child should eat a nutritious diet, sleep well, and stay hydrated to boost immunity and prevent any illness. Parents should seek immediate help if the child is having any symptoms, such as a cough or allergies, and follow the expert's guidelines. Parents should not give any medication to the child on their own without the doctor's knowledge. So, parents should stay alert during the monsoon and help the child stay healthy.