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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.”
Virtual autism must not be confused with autism spectrum disorder (ASD). (Photo credit: iStock)
In today’s digital age, screens have become almost inseparable from daily life—even for very young children. While technology offers convenience and learning opportunities, increasing clinical observations have raised concerns about a phenomenon often referred to as “virtual autism." In an interview with Health and Me, Dr Aarti Javeri Manek, Paediatric Neurologist at Sir HN Reliance Foundation Hospital, explained what virtual autism is and the impact of screen time on children's brain health.
Virtual autism is not a formally recognised medical diagnosis but rather a descriptive term used for children—typically toddlers—who exhibit autism-like features in the context of excessive screen exposure, particularly during critical periods of brain development. These children may show reduced eye contact, delayed speech, poor social interaction, and limited responsiveness to their environment.
Also Read: Cancer Is The 10th Leading Cause Of Death In Indian Children: Study
However, it is crucial to distinguish this entity from clinical Autism Spectrum Disorder (ASD). ASD is a neurodevelopmental condition, often with a strong underlying genetic and biological basis, present in addition to exogenous influences. External stimulus exposure may not even be apparent. In contrast, children with virtual autism often demonstrate significant improvement when screen time is reduced and replaced with real-world, interactive experiences. This reversibility is a key differentiating factor.
Read more: Is My Child Shy Or Autistic? Psychiatrist Shares Tips To Help Parents Spot Early Signs
From a neurological perspective, early childhood is a period of rapid synaptic growth, heavily influenced by sensory and social input. When screens replace human interaction, this can impact language acquisition, attention, and social interaction.
Some red flags that may suggest screen-related developmental delays include:
While these signs overlap with autism, the context is important. A history of prolonged, unsupervised screen exposure, often exceeding 3–4 hours per day in toddlers, should prompt consideration of environmental impact.
Read more: Can Cell Therapy Be The Future Of Autism Treatment?
Yes, significantly so. The first three years of life are critical for brain development, particularly for language, social bonding, and emotional regulation. During this period, the brain relies heavily on serve-and-return interactions—a child babbles, a caregiver responds; a child points, and a parent names the object. These exchanges build neural circuits essential for communication and cognition.
Screens, even educational ones, are inherently passive. They do not adapt in real time to a child’s cues in the same way a human does. Excessive exposure during this sensitive window can therefore displace meaningful interactions, leading to significant developmental delays.
Older children, while not immune, are generally more resilient, as they have already established foundational social and language skills. However, excessive screen time in this group may still contribute to attention difficulties, behavioural issues, and reduced social engagement.
The encouraging aspect of virtual autism is its potential reversibility if it is identified early. Reducing screen exposure, especially in children under 2 years, and reintroducing interactive play, storytelling, and face-to-face communication may lead to noticeable improvements. Ultimately, screens are tools and not substitutes for relationships. In early childhood, it is these relationships that shape the developing brain most profoundly.
Getting a tattoo is a form of self-expression, but one must take extra care while getting one. (Photo credit: iStock)
For some people, getting inked is more than a passion—it is a form of self-expression. And tattoos are nothing short of an addiction; it is not easy to stop at one. Despite being a painful procedure that requires a great deal of caution—using fresh needles and safe ink, for instance—several incidents come to light where getting a tattoo goes wrong in irreversible ways. In a recent case, a man developed a weeping, black ulcer of dead flesh on his neck months after getting a tattoo. In this case, doctors blamed this reaction on the colour of the tattoo ink—it may have triggered inflammation that caused the skin to blacken and die.
A 20-year-old man had a red cross tattoo on the base of his neck. After three months, it faded away spontaneously and was replaced by scars and bumps on either side of the neck, accompanied by a necrotic ulcer. In this case, when the tissue blackens and dies, it results in a painful wound. The unnamed man was hospitalised five months after getting his first tattoo. Doctors examining the patient found that the lymph nodes, which help fight infections, were swollen and hard. Doctors also examined a large crusted ulcer, which had spread across the base of the neck and had seeped into deeper layers of skin.
Read more: Tattoos May Increase Cancer Risk, Study Suggests
Doctors also performed an MRI and found large lumps around the ulcer that measured up to 5 cm. There were two blood clots in the jugular vein as well. Two biopsies were taken of the necrotic ulcer, but they did not reveal what may have triggered the necrosis. The team was then concerned about the scan results and how fast the patient's condition was progressing. He was then rushed into surgery, where doctors removed the ulcer along with masses on the neck. His neck was then reconstructed using fat from the thighs. The patient was then diagnosed with necrotising granulomatous lymphadenitis.
Necrotising granulomatous lymphadenitis is an inflammatory condition wherein the lymph node tissues die and form clumps of immune cells known as granulomas. This can develop in response to an injury, and in this case, doctors said that the tattoo was to blame.
Doctors said that heavy metals like cadmium and mercury in organic tattoo ink can result in an immune response. From surgery to recovery, the patient's case is published in the journal JAMA Otolaryngology. Experts say that this is only the second known case of necrosis after a tattoo.
Getting a tattoo can be painful, but for some people, the pain is worth it. However, according to experts, there are some spots that are not ideal for getting a tattoo. These are:
Seasonal factors can aggravate dandruff. (Photo credit: iStock)
As winter transitions into warmer summer months, many people notice a sudden worsening of dandruff. During colder months, dandruff often appears as dry, fine flakes due to scalp dryness. However, as temperatures rise and humidity increases, dandruff can become oily and sticky because of increased sweating and sebum production. This seasonal shift highlights that dandruff is not limited to a particular time of year; rather, changes in climate can disrupt scalp balance and trigger flare-ups. Dr. Anupriya Goel, MBBS, MD, DPD (UK) – Dermatology, answered this for us.
Many people struggle to understand why dandruff keeps recurring. It is often treated as a temporary cosmetic concern, but in reality, dandruff is a chronic scalp condition that requires consistent care and appropriate treatment. The primary cause of dandruff is a yeast called Malassezia globosa, which naturally resides on the scalp. This microorganism feeds on sebum (the natural oils produced by the scalp). As it breaks down these oils, it releases by-products that can irritate the scalp, leading to inflammation, itching, and visible flaking.
Seasonal factors further aggravate this process. In winter, cold air, low humidity, indoor heating, and frequent hot showers can strip the scalp of its natural moisture and weaken the skin barrier, resulting in dryness and flaking. In contrast, summer brings increased sweat and oil production. The combination of humidity, sweat, and sebum creates an ideal environment for Malassezia to multiply, which can worsen dandruff symptoms.
Read here: Simple Secrets To Establishing The Right Winter Hair Care Routine
Environmental factors such as pollution can also settle on the scalp and contribute to irritation. In addition, daily habits like wearing helmets for long hours, tying up damp hair, or not cleansing the scalp regularly can further disrupt scalp health. The transition period between seasons is often the most challenging, as the scalp has limited time to adapt to changing environmental conditions.
Because dandruff is often mistaken for a temporary issue, many people rely on occasional treatments or home remedies. However, effective management typically requires regular scalp-focused care using clinically proven active ingredients.
Treating dandruff
One such ingredient commonly used in anti-dandruff formulations is Piroctone Olamine, an antifungal agent that helps control the growth of Malassezia on the scalp. By reducing fungal proliferation, it helps address the underlying cause of dandruff and can assist in decreasing flaking, itching, and scalp irritation. It also helps cleanse the scalp by removing excess oil and buildup while being relatively gentle on the hair and scalp.
Read more: 7 Ayurvedic Hair Health Tips You Should Try For Healthy Locks
For optimal results, individuals experiencing recurrent dandruff may benefit from incorporating an anti-dandruff shampoo containing Piroctone Olamine into their regular hair care routine. Consistent use is important for maintaining scalp balance. During periods of increased sweating, such as in hot and humid weather, washing frequency may be increased as needed. Maintaining hygiene practices such as regularly cleaning helmets, pillowcases, and hair accessories can also help minimise recurrence.
In addition to controlling dandruff, well-formulated shampoos containing Piroctone Olamine are often combined with conditioning and moisturising ingredients that help maintain hair softness and scalp comfort while supporting long-term scalp balance.
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