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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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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.
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
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 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 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.
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.
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
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America's falling birth rate is often reported with concerns like shortage of labour, a growing aging population, and slower population growth. But another major consequence is unfolding within the healthcare system that is going unnoticed.
As fewer women have children and more delay pregnancy, women's healthcare is evolving beyond maternity care to address changing health needs.
According to the latest data from the U.S. Centers for Disease Control and Prevention (CDC), 3.63 million babies were born in the United States in 2024, a slight increase from 2023.
However, the general fertility rate fell to a record-low 53.8 births per 1,000 women aged 15 to 44, marking the lowest level ever recorded.
One of the biggest changes is maternity care. With fewer births being reported, hospitals, particularly in rural communities, are struggling to keep labour and delivery departments financially viable.
The problem has contributed to the rise of a maternity care challenge where pregnant women have limited or no access to obstetric services.
The 2024 March of Dimes Maternity Care Deserts Report found that more than one in three U.S. counties lack a single obstetric clinician or birthing facility, leaving millions of women with reduced access to prenatal and delivery care.
Women living in these areas are more likely to receive inadequate prenatal care and experience higher rates of preterm birth.
Also read: Beyond The Bump: Why Preconceptions And Antenatal Care Are Key To A Healthy Pregnancy
At the same time, healthcare providers are broadening their focus beyond pregnancy. Women today are delaying childbirth, having fewer children, or choosing not to become parents altogether.
As life expectancy increases, demand is growing for services related to menopause, cardiovascular disease, osteoporosis, pelvic floor disorders, mental health, and healthy aging.
The shift also explains why fertility care is expanding despite declining birth rates. As more Americans postpone parenthood into their late 30s and 40s, many require fertility evaluations, egg freezing, or in vitro fertilization (IVF).
Rather than indicating more births, the growing use of assisted reproductive technology reflects changing reproductive timelines.
An aging female population is also changing healthcare priorities. Older women face a higher risk of chronic diseases such as heart disease, diabetes, osteoporosis, and dementia, increasing the need for preventive care and long-term disease management.
Health systems are investing more in menopause clinics, wellness programs, and other women's health services.
America's falling birth rate is therefore reshaping far more than population statistics. It is redefining women's healthcare, shifting the focus from pregnancy-related care to comprehensive support throughout every stage of life.
On World Population Day, the conversation is not just about how many babies are being born. It is also about ensuring that healthcare evolves to meet the changing needs of women, whether or not they choose to become mothers.
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Chai and pakoras are practically non-negotiable once the rains set in. For a large number of Indians, though, monsoon comes with something less welcome: a blocked nose, itchy eyes, and a "cold" that just won't quit.
Most people write this off as a seasonal cold. It's often not. A large share of the patients I see in July aren't fighting a fresh infection. They're dealing with allergic rhinitis that's been present for months at a manageable level, and monsoon has simply pushed it past a threshold they can no longer ignore.
The scale of this is easy to underestimate. A national study under the Global Asthma Network, which surveyed more than 1.27 lakh children, adolescents, and adults across India, found that close to a quarter of Indian adolescents aged 13 to 14 live with allergic rhinitis. Roughly one in ten adults does too.
Other Indian research puts the overall incidence of allergic rhinitis anywhere between 20 and 30 percent of the population. This isn't a niche complaint. It's one of the more common chronic conditions walking through general practice doors, most of which are simply unnamed.
The same national study found something more concerning: nearly three out of four people who met the clinical criteria for allergic rhinitis had never actually been diagnosed with it. Many had lived with recurring congestion, sneezing, and disturbed sleep for years without anyone connecting the dots.
A separate survey of over 1,600 physicians across India found that while a large share see allergic rhinitis routinely in practice, more than half had never used immunotherapy, one of the few treatments that changes the course of the disease rather than just quieting it temporarily.
Indian allergen-testing data show a clear rotation of triggers through the year: dust mites dominate winter, pollens dominate summer, and fungal and insect allergens rise sharply once the rains set in.
The reason is straightforward. Once relative humidity in a city climbs past 70 percent, which happens routinely through the monsoon, fungal spores and dust mites both multiply fast. Waterlogging pushes fungal spore counts up further. A damp curtain or a mattress that never quite dries between showers becomes a long-term allergen source that outlasts any single rainy day.
Allergic skin and eye conditions tend to flare with the same seasonal humidity and allergen load as allergic rhinitis, and in practice, they rarely show up in isolation. A patient with monsoon-triggered nasal symptoms is worth a closer look for coexisting asthma, eczema, or conjunctivitis, simply because in the Indian patient population, these conditions travel together more often than not.
For anyone with a known allergic condition, a few habits make a real difference once the rains arrive:
Monsoon doesn't create new allergy patients. It reveals how well the existing ones are actually being looked after.
“Let knowledge be your shield against the changing seasons."
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