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.”

From being a macho dude, Bruce Willis’ personality has changed to becoming more ‘tender’ even as the 71-year-old action hero continues to battle dementia, according to his daughter Rumer.

“I’m so grateful I get to go see him,” Rumer, 37, said during a podcast interview. “Even though it’s different now, I’m so grateful.”

“There’s a sweetness. He’s always been this kind of macho dude, and there’s like a — fragile is not the right word, but — just a tenderness that maybe being Bruce Willis might not have allowed him in a certain way,” she added.

Bruce Willis is continuing into his third year living with the condition.

In March 2022, Bruce Willis, the media legend who dominated Hollywood in his prime, was diagnosed with dementia, and since then, his family has been sharing their struggle with his diagnosis and how slowly it has been taking a toll on his health.

The following year, his diagnosis was confirmed as frontotemporal dementia (FTD), which is a degenerative disease that slowly chips away at your motor skills, communication skills, etc. His wife, Emma Heming Willis, noted early signs were subtle changes in his speech, initially mistaken for a resurgence of his childhood stutter.

Rumer is the eldest daughter of Bruce and The Substance star Demi Moore, who were married from 1987 to 2000. The former couple also had Scout Willis, 34, and Tallulah, 32, together.

Although FTD is considered to be one of the rarest forms of dementia, Rumer said the disease is more “prevalent” than she realized.

“It’s wild to me. So many people come up to me now, and they say, ‘My uncle had FTD. My dad had this,” she said.

Bruce Willis Is Alive

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Earlier this year, in March, a hoax news of Bruce Willis’ death circulated. However, his representatives confirmed that the news is fabricated and that the actor is alive.

"He joins the long list of celebrities who have been victimized by this hoax. He's still alive and well. Stop believing what you see on the Internet," his official representative stated.

What Is Frontotemporal Dementia?

Frontotemporal dementia is a less prevalent type of dementia that mainly occurs in the frontal and temporal lobes of the brain. It tends to affect behavior, personality, language, and movement more than memory, particularly in its initial stages.

In contrast to Alzheimer's, which generally strikes older individuals, FTD can hit at an earlier age—sometimes as young as 40. The symptoms can range from changes in personality, emotional flatness, or the inability to show empathy to impulsiveness, so it is especially hard for spouses and children to cope.

Frontotemporal Dementia: Symptoms

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The Mayo Clinic states that the symptoms of FTD vary depending on the most affected part of the brain. The progression is gradual but relentless.

Behavioral symptoms:

• Socially inappropriate behavior.
• Loss of empathy and sensitivity to others.
• Poor judgment and impulsivity.
• Apathy that can be mistaken for depression.
• Compulsive habits such as tapping, clapping, or repetitive lip-smacking.
• Decline in hygiene.
• Odd eating habits – from sudden sugar cravings to chewing on non-food items.

• Trouble understanding and producing speech.
• Difficulty finding the right words.
• Using vague terms like “it” instead of specific words.
• Simplified, telegraphic speech.
• Errors in building sentences.

• Tremors, stiffness, or muscle spasms.
• Difficulty swallowing or weakness.
• Poor balance leading to falls.
• Inappropriate emotional outbursts, such as laughing or crying.
• The “wide-based gait” noted by Dr. Gartner falls into this movement-related cluster, aligning with the suspicion of FTD.

Even as injectable aesthetic procedures are gaining popularity as "cosmetic" treatments in beauty clinics and wellness centers across the country, the Central Drugs Standard Control Organisation (CDSCO) has tightened rules around cosmetic use.

In a new public notice issued this week, the CDSCO stated that cosmetic products that come in injectable form do not fall under the definition of cosmetics under the law. It said that such products are not permitted for use by consumers, professionals, or aesthetic clinics.

"Cosmetic means any article intended to be rubbed, poured, sprinkled or sprayed on, or introduced into, or otherwise applied to, the human body," the notice said.

It added that cosmetics are for "cleansing, beautifying, promoting attractiveness, or altering the appearance."

Thus, "products supplied in the form of injectable preparation do not fall under the definition of cosmetics. No cosmetic is permitted to be used as injection by consumer/professionals/aesthetic clinics," the notice added.

What Can No Longer Be Done

The new rules bar professionals and stakeholders from using or manufacturing any cosmetic product intended for injection or medical purposes.

The move also seeks to curb misleading advertising and unauthorised cosmetic practices by clinics and individuals.

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The regulator also warned against misleading claims and the use of prohibited ingredients in cosmetic products, saying such violations attract action under the Drugs and Cosmetics Act and Cosmetics Rules, 2020.

"Use of prohibited ingredients in cosmetic products, misleading claims on label, use of cosmetics for treatment, and application of cosmetics through injection attracts violations of the said Act & Rules," the notice said.

The regulator stated that no person shall alter, obliterate, or deface any inscription made by the manufacturer on the container or label of the product intended for use as a cosmetic.

The notice added that the list of generally not recognised as safe (GNRAS) and restricted ingredients is published by the Bureau of Indian Standards (BIS).

It has also encouraged the public and users to report any instance of misleading claims or violations through email and state licensing authorities.

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Why Injectable Beauty Clinic Therapies Are Under Scanner

The move follows several incidents of sub-standard cosmetic products found to be sold in the market, ranging from Botox parties in upscale salons to glutathione “skin whitening” drips offered in local aesthetic clinics.

Social media trends, celebrity endorsements, and growing demand for “preventive anti-ageing” treatments among younger consumers have driven the market for injectable beauty products, especially Glutathione drips, as well as detoxifying therapies, in the country.

Medical experts have also been raising concerns over their long-term safety and efficacy. As per experts, unregulated injectable procedures carry risks ranging from allergic reactions and infections to liver and kidney complications in extreme cases.

The new norms, thus, are part of the government's plans to strengthen the regulatory mechanism for cosmetics.

The government is also reportedly planning to designate a Central Cosmetics Laboratory to test cosmetic samples and may also designate any laboratory under its control for testing, according to Mint.

In addition, manufacturers will have to keep details and records of each batch and raw materials. Records are to be maintained for three years after the expiry of each batch. Imported cosmetic products shall bear a code number as approved by the State Licensing Authority.

Amid continuing heatwave conditions in northern India, prolonged exposure to extreme temperatures can trigger serious and potentially fatal medical emergencies, particularly among elderly individuals and cardiac patients, according to an expert.

The India Meteorological Department (IMD) has warned of severe temperatures across several states.

"Heat wave to severe heat wave conditions likely to continue to prevail over northwest & central India during the week and over East India during the next 5 days," the IMD said, in its latest update on May 20.

It added that severe heat conditions will persist for at least the next 72 hours across Delhi-NCR, Rajasthan, Uttar Pradesh, Punjab, and Haryana. Temperatures in several cities are expected to touch 47°C to 48°C, with Banda currently emerging as the hottest place in the country.

Dr. Vaibhav Mishra, Senior Director & Head, CTVS, Max Super Speciality Hospital, told HealthandMe that heat-related illnesses are not limited to discomfort or dehydration alone, and can rapidly worsen if early warning signs are ignored.

Heat Exhaustion Vs Heat Stroke

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There are two major heat-related illnesses that people must understand so that timely precautions can be taken — heat exhaustion and heat stroke.

"Heat exhaustion is a milder and more common condition and typically occurs after prolonged exposure to high temperatures or intense physical activity in the outdoors," Dr. Vaibhav said.

Excessive sweating leads to significant loss of water and salts from the body, resulting in:

• dehydration,
• fatigue,
• dizziness,
• muscle cramps,
• weakness,
• headache,
• nausea.

"However, if heat exposure continues and the body’s cooling mechanisms begin to fail, the condition can progress to heat stroke, which is a medical emergency. In heat stroke, body temperature often rises above 104°F," Dr Vaibhav told HealthandMe.

What may initially appear as confusion, disorientation, or irrelevant talking can rapidly worsen into:

• altered consciousness,
• seizures,
• coma,
• death.

How Heat Affects The Heart

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Dr Vaibhav said that to cool the body during extreme heat, the heart has to work harder and beat faster so that more blood can be directed towards the skin for heat dissipation.

"This places additional stress on an already weakened heart. Many cardiac patients are also on medications such as diuretics, which increase fluid loss and dehydration. Certain blood pressure medicines may blunt the body’s normal response to heat and delay warning symptoms," the expert told HealthandMe.

Dehydration further thickens the blood and, combined with increased cardiac workload, can significantly raise the risk of heart attacks, strokes, and dangerous rhythm disturbances.

How To Prevent Heat Stroke

Dr. Vaibhav stressed the critical need for early recognition of symptoms, especially in vulnerable individuals such as elderly people and cardiac patients, who are much more susceptible to heat-related complications.

Simple preventive measures can save lives. These include

• avoiding direct sun exposure during peak afternoon hours,
• maintaining adequate hydration,
• wearing loose cotton clothing,
• avoiding strenuous outdoor activity,
• never ignoring early symptoms such as excessive fatigue, dizziness, or confusion.