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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
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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:
Many participants said the condition significantly disrupted their daily lives, preventing them from working or continuing their education.
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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.
The study found evidence of:
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.
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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:
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.
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.
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Plant-based Vitamin D3 is often marketed as a healthier or superior alternative to traditional supplements, but doctors say that's not necessarily the case.
According to Dr. Murtaza S. Bagwala, Head of Emergency Medical Services at Saifee Hospital in Mumbai, existing research shows that plant-based Vitamin D3 is just as effective as conventional Vitamin D3 in increasing the body's vitamin D levels.
"Current evidence suggests that plant-based Vitamin D3 performs similarly to conventional Vitamin D3 supplements. For people who prefer vegan or plant-based products, it is a suitable alternative," he told HealthandMe.
Echoing this view, Dr. Sudhir Kumar, Neurologist at Apollo Hospitals in Hyderabad, said that plant-derived Vitamin D3—usually obtained from lichen, algae, or modern fermentation methods—provides an animal-free option without sacrificing effectiveness.
In a post on X, he noted that while plant-based Vitamin D3 is welcome news for vegans and those seeking cruelty-free supplements, both forms work equally well. He added that there is no medical need for people to switch if they are already taking conventional Vitamin D3 supplements.
India has approved its first plant-based Vitamin D3 (cholecalciferol) ingredient, a move that could expand options for food fortification and dietary supplements while addressing the country's widespread Vitamin D deficiency.
The Food Safety and Standards Authority of India (FSSAI) has cleared VITADEE Green, developed by Fermenta Biotech, for use in health supplements, nutraceuticals and food products.
The company stated that the ingredient is produced using an India-patented process and offers a sustainable, scalable and vegetarian-friendly source of Vitamin D3.
The approval allows Indian manufacturers to incorporate the ingredient into fortified foods, beverages and dietary supplements.
It is particularly significant for vegetarians and vegans, who have traditionally had limited access to Vitamin D3 because most supplements are derived from lanolin, a by-product of sheep's wool.
The approval also supports India's broader efforts to improve nutrition through food fortification, an area where experts say Vitamin D remains a major gap.
Vitamin D3, often called the "sunshine vitamin," is produced by the body when the skin is exposed to sunlight.
It helps the body absorb calcium, maintain healthy bones and teeth, and lowers the risk of fractures. In children, severe deficiency can lead to rickets, while in adults it increases the risk of osteoporosis, muscle weakness, and falls.
Beyond bone health, Vitamin D3 also supports immune function. Research suggests low Vitamin D levels may be associated with increased susceptibility to infections and higher levels of inflammation.
The experts said the key question is whether supplementation is needed, not whether the source is plant- or animal-derived.
"The source matters mainly for ethical, dietary or personal preference—not for efficacy," Dr. Sudhir said.
Dr. Bagwala cautioned against taking high-dose Vitamin D without medical advice, as excessive intake can raise calcium levels and increase the risk of kidney stones and other complications.
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Yawning has a certain fact attached to it, which is without a doubt a reason for curiosity and amazement among people. Many of you must have noticed that when someone nearby yawns, you often end up yawning too. Even in some cases, a person yawns just after hearing the word yawn or watching someone yawn on screen.
Yawning itself is a natural physical process that involves taking a deep breath and stretching the muscles used for breathing. Some experts suggest that it may help increase alertness and leave us feeling refreshed. However, while scientists have proposed several theories about the purpose of yawning, one question continues to intrigue researchers: why are yawns so contagious?
Dr. Debanjan Pan, Consultant Psychiatrist at Saltlake Mindset, told Health and Me, "Contagious yawning may be linked to mirror neurons, which help us understand and imitate the behavior of others. Humans have survived by living in groups, and our brains are naturally wired to synchronize with the people around us. When we see someone yawn, the same neural networks in our brains may become activated, prompting us to yawn as well."
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Yawning involves taking a very deep breath, which increases oxygen intake and stimulates several parts of the respiratory system. This deep inhalation can temporarily raise the heart rate and boost blood circulation to the spinal cord and the brain, making a person feel calmer and more relaxed afterward.
According to Dr. Pan, this sense of relaxation may also explain why yawning is contagious. When we see someone else yawn, the brain's empathy circuits, particularly those linked to mirror neurons, become active. As humans are highly social beings, we often unconsciously mimic the behaviour and emotions of people around us, causing a yawn to spread from one person to another.
But there might be a question: if yawning is contagious because humans are social animals and human brains are naturally wired to synchronize with the people around them, then why doesn't coughing and sneezing have the same effect?
Dr. Vikas Mittal, Director - Pulmonologist, CK Birla Hospital, Delhi, addressed this very issue and explained, "Yawning is different than coughing and sneezing. Coughing and sneezing are protective reflexes that protect you from irritants. They can be contagious, but that contagion comes after one or two days, not immediately as is with yawning. Yawning occurs because of the brain's automatic self-mirroring networks."
Dr. Mittal further added, "What it means is when somebody yawns, then your brain starts imitating that unintentionally. Not only yawning, but other emotions like a smile, laugh, and fear can trigger the same emotion in the people around you. This is because of the same brain's automatic self-mirroring networks."
Contagious yawning appears to be more than a simple reflex, offering insights into empathy, social bonding, and the human brain.
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