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.”

More than 57 million people worldwide are living with dementia, a number expected to triple to over 152 million by 2050. While there is still no cure, growing evidence suggests that healthy lifestyle changes can help improve brain health and preserve cognitive function in older adults at risk of dementia.

A major study published in The Lancet suggests that adopting healthy lifestyle habits can significantly improve memory and thinking skills in older adults at risk of dementia.

The study found that a culturally adapted, structured lifestyle program delivered across 11 Latin American countries produced meaningful improvements in cognitive function over two years. Participants in the intensive program showed 55 per cent greater improvement in overall cognition than those who received general health advice.

Lead author Lucia Crivelli, principal investigator at Fleni, a neurological institute in Buenos Aires, Argentina, said culturally adapted lifestyle interventions can be successfully implemented across diverse communities and "deliver cognitive benefits" for people at risk of dementia.

"Addressing multiple lifestyle factors can positively impact brain health and may eventually be combined with emerging drug therapies to reduce cognitive decline and dementia risk," added Heather M. Snyder, senior vice president of medical and scientific relations at the Alzheimer's Association.

What Did The Study Find?

Also read: Osteoporosis Affects Nearly 20% Of US Women Aged 50+: Why Screening Is Key

The clinical trial enrolled 1,065 adults aged 60 to 77 years at increased risk of cognitive decline across 12 sites in Argentina, Bolivia, Brazil, Chile, Colombia, Costa Rica, the Dominican Republic, Ecuador, Mexico, Peru and Uruguay.

Participants were randomly assigned to one of two groups. The Systematic Lifestyle Intervention (SLI) group received ongoing coaching, supervised exercise, personalized nutrition counselling, cognitive training and regular monitoring of cardiovascular risk factors. The Flexible Lifestyle Intervention (FLI) group received general lifestyle recommendations through periodic health education sessions without continuous coaching or supervision.

The structured program combined supervised exercise, a brain-healthy MIND diet, computer-based cognitive training, regular monitoring of blood pressure, blood sugar and weight, and social engagement activities designed to encourage accountability and interaction.

To improve participation, the intervention was adapted to local cultures. Exercise sessions incorporated familiar activities such as salsa and tango, while nutrition counselling focused on regionally available foods including avocado, quinoa, açaí, chia seeds, pumpkin seeds and aguaymanto.

Read More: Study Decodes Why COVID Survivors Continue To Suffer Vision Problems

After two years, participants in the structured intervention experienced:

• 55 per cent greater improvement in overall cognitive performance than those in the flexible intervention group.

• The largest gains in memory.

• Significant improvements in executive function, including planning and decision-making.

• Faster processing speed.

The cognitive benefits were consistent regardless of participants' age, education level, ethnicity or genetic risk for Alzheimer's disease.

The authors noted that while the program improved performance on cognitive tests, it did not determine whether the intervention prevents dementia. They said longer-term follow-up is needed to establish whether these cognitive improvements ultimately reduce the risk of developing the disease.

What Is Dementia?

Dementia is an umbrella term used to describe a significant decline in mental function that is serious enough to affect everyday life. It commonly impacts memory, thinking, and reasoning skills. Dementia itself is not a single disease but a collection of symptoms caused by underlying conditions such as Alzheimer’s disease or vascular dementia.

Common signs include

• memory problems,
• confusion,
• difficulty finding words,
• changes in mood or behavior,
• trouble completing familiar tasks.

Nearly one in five women aged 50 and older in the United States has osteoporosis, a bone disease that weakens bones and increases the risk of fractures. Yet many women remain undiagnosed because the condition often develops without noticeable symptoms in its early stages.

To improve early detection, the updated recommendations from the US Preventive Services Task Force (USPSTF) advise routine osteoporosis screening for women aged 65 years and older.

The task force also recommends that postmenopausal women younger than 65 undergo a risk assessment to determine whether they should receive a bone density scan.

Updated USPSTF Screening Recommendations

Also read: US Senator & Trump's Close Ally Lindsey Graham Died Of Aortic Dissection: All About The Fatal Heart Emergency

The USPSTF recommends:

• Women aged 65 years and older should undergo routine screening with a bone density scan.
• Postmenopausal women younger than 65 should first complete a risk assessment questionnaire to determine whether a bone density scan is needed.

Women under 65 may need screening if they have one or more risk factors, including:

• Low body weight
• Family history of hip fractures
• Cigarette smoking
• Excessive alcohol consumption

"Screening is important because osteoporosis causes bones to become weaker and fracture more easily, leading to disability, chronic pain, loss of independence, and even death,” said Task Force member Dr. Esa Davis, professor of family and community medicine at the University of Maryland, Baltimore, NBC reported.

Why Osteoporosis Often Goes Undetected

Osteoporosis is often called a "silent disease" because it usually causes no symptoms until a bone breaks. Many people only discover they have osteoporosis after experiencing a fracture. The most common fracture sites include the:

• Hip
• Wrist
• Spine

Why Osteoporosis Is More Common In Women

Read More: Study Decodes Why COVID Survivors Continue To Suffer Vision Problems

According to the US Centers for Disease Control and Prevention (CDC), data from 2017-2018, published in 2021, showed that:

• 19.6 per cent of women aged 50 and older had osteoporosis in the femur or lower spine.
• In comparison, 4.4 per cent of men had osteoporosis.

The study also found that osteopenia—a condition of lower-than-normal bone density that often precedes osteoporosis—was more common in women than men. While osteopenia affected 51.5 per cent of women, it affected 33.5 per cent of men.

In women, osteoporosis is commonly linked to the hormonal changes that occur after menopause.

Estrogen plays an essential role in building and maintaining strong bones. After menopause, estrogen levels decline significantly, accelerating bone loss and increasing the risk of osteoporosis.

People who do not build strong bones during childhood and early adulthood are also at greater risk later in life. Factors such as lack of physical activity, eating disorders, and certain health conditions can prevent the body from achieving optimal bone mass during the younger years.

What Is Osteoporosis Screening?

Doctors use imaging tests to measure bone density and diagnose osteoporosis. A DXA (dual-energy X-ray absorptiometry) scan is the standard diagnostic test and measures bone density in the spine, hip, and wrist using a very small amount of radiation.

Ultrasound can also assess bone quality, but it is not used alone to diagnose osteoporosis. If ultrasound findings suggest bone loss, a DXA scan is still required to confirm the diagnosis.

Is Osteoporosis Treatable?

There is currently no cure for osteoporosis, but treatment and lifestyle changes can help slow bone loss and reduce the risk of fractures.

Experts recommend:

• Stay physically active and do weight-bearing exercises such as walking.
• Do not smoke.
• Limit alcohol consumption.
• Get enough calcium and vitamin D through your diet. Your healthcare provider may also recommend calcium and vitamin D supplements if needed

Thanks to growing popularity of complex and elaborate skincare trends on social media, perfect skin has become the ultimate beauty goal for many teenagers.

But experts are warning that this obsession is fueling a worrying condition known as cosmeticorexia, where young people use anti-aging and active skincare products far beyond what their skin needs, increasing the risk of irritation, allergies, and long-term damage.

When Skincare Turns Into Skin Damage

Teenagers and even younger children suffer from severe skin damage, chemical burns, and dermatitis. The cause of this issue is not a common medical condition but a reflection of an unhealthy trend called cosmeticorexia (dermorexia).

This dangerous obsession pushes people to treat their skin as an unacceptable defect that needs to be constantly adjusted, filed, tightened, peeled, and made younger.

Social media and anti-aging marketing culture promote this disorder by encouraging adolescents to use various comedogenic creams, serums, and toners with harmful effects on sensitive and fragile skin. Thus, millions of teenagers damage their skin beyond repair before it naturally matures.

Also read: Is Plant-Based Vitamin D3 Really Better? Doctors Reveal the Truth

Why Teen Skin Is More Vulnerable

There are multiple concerns about the health of teenage skin from a medical perspective. The skin of adolescents is thinner and more sensitive to external influences.

In addition, teenagers' skin is subject to increased sebum production and associated risks of comedones, blackheads, and dermatitis.

The Hidden Risks Of Trendy Skincare Products

The use of "cosmeceuticals" or prescription drugs with neurotoxins, retinol, AHA (glycolic acid), and vitamin C can accelerate skin damage when used inappropriately.

Recent research has shown that the standard skincare regimen of a teenager who follows social media and beauty vloggers includes more than eleven irritating substances. Topical application of such a combination of cosmetics damages the upper layer of the skin, provoking allergic reactions, dermatitis, redness, and irritation.

Moreover, the use of retinol and AHA (glycolic acid) without medical supervision may lead to photosensitivity, increasing the risk of UV-induced skin damage. Finally, an increasing number of cases of allergic contact dermatitis are linked to synthetic and harmful substances found in luxury cosmetic products.

Also read: Vitiligo Myths Debunked: It's Not Contagious or Caused by Food

Cosmeticorexia: A Psychological And Skin Health Disorder

Cosmeticorexia is an example of a psychodermatological disease, where psychological problems manifest through dermatological conditions.

The constant pursuit of flawless skin can lead adolescents to adopt harmful skincare practices that ultimately damage their skin rather than improve it.

The Right Skincare Routine For Teenagers

From a medical point of view, the role of healthcare providers is to combat this dangerous trend by addressing its immediate consequences.

Teenagers' skin does not require anti-aging treatments or additional nourishment. The only essential skincare routine includes three simple steps: gentle cleansing, applying a non-comedogenic moisturizer, and using a hydrating sunscreen every day.

Protecting Teens From Harmful Beauty Trends

Doctors, parents, educators, and social media platforms must work together to counter the anti-aging industry's growing influence on teenagers.

Raising awareness about age-appropriate skincare and discouraging unnecessary cosmetic treatments can help protect young people from avoidable chemical damage and long-term skin problems.

By Dr Gaurav Garg Dermatologist & Hair Expert, Founder, Dermalife Skin Hair Clinic