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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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William, the Prince of Wales, has yet again voiced out concerns about mental health in males, which is often a neglected topic. He also opened up about his emotional struggles and urged men to speak out to normalize the issue.
Speaking to BBC Radio 1, William said it has taken a " long time” for him to understand his “emotions”.
"Learn to love yourself and understand yourself. I take a long time trying to understand my emotions and why I feel like I do, and I feel like that's a really important process to do every now and again, to check in with yourself and work out why you're feeling like you do," said the Prince of Wales.
He emphasized the "need for more male role models" who can speak about their mental health publicly.
"We need more male role models out there, talking about it and normalizing it, so that it becomes second nature to all of us."
"It's OK to ask for support, ask a mate, reach out," said William.
It is not the first time that the Prince has spoken about mental health. Earlier, he stated that people must "relax a little bit and be able to talk about our emotions because we're not robots".
Compared to women, men are known to be less likely to seek help for mental health issues. Driven by stigma, reluctance to seek help, and societal pressures regarding masculinity, men are also more likely to die by suicide.
As per a recent study by The Institute for Health Metrics and Evaluation, University of Washington, US, males die from suicide at twice the rate of females. Their attempts also result in death three times more often than female attempts.
A 2020 paper by the World Health Organization (WHO) identified self-reliance, difficulty in expressing emotions, and self-control as the key sociocultural barriers to men’s help-seeking about masculinity norms.
The National Institute of Mental Health attributed genes, a family history of depression, environmental stress, including financial problems, the loss of a loved one, work problems, a difficult relationship, a major life change, or a stressful situation as major reasons for a decline in mental health in men. Medical conditions like diabetes, heart disease, or cancer are also known to raise the risk of depression in men.
Further, substance use, loneliness, and shame are also contributing factors to the elevated suicide rates among men.
While men and women develop most of the same mental disorders, their symptoms may be different. Some common symptoms among men include:
Anger, irritability, or aggressiveness
Prominent changes in mood, energy level, or appetite
Difficulty sleeping or sleeping too much
Difficulty concentrating, feeling restless, or on edge
Misuse of alcohol, drugs, or both
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Many packaged baby foods marketed as healthy may contain hidden sugars and ultra-processed ingredients that can shape a child’s taste preferences and long-term health.
Brightly packaged baby cereals, fruit pouches, snack puffs and flavored yoghurts use “natural”, “organic” and “doctor recommended” labels to advertise their nutritional value and reassure parents.
“What shocked me was the top ingredient in 71% of these baby foods wasn’t a fruit or vegetable, it was one or more additives,” said Dunford, who is also a consultant at The George Institute for Global Health.
However, packaged baby food is instead packed with artificial additives and highly processed components such as carrageenan, xanthan and guar gum.
The majority of packaged baby foods are classified as ultraprocessed because they undergo extensive industrial manufacturing and contain ingredients rarely found in a home kitchen.
Rather than using whole, simple foods, many manufacturers rely on heavy processing steps that strip away natural nutrients.
Key Indicators of Ultra Processed Food
Refined Bases: Many ready-to-eat snacks, like puffs, use refined starches and flours as their primary ingredients instead of whole grains.
Not Real Whole Fruit: Many brands often claim whole fruit however; they only provide taste and sweetness without the beneficial fiber and nutrients of the original fruit.
Hidden Sugars and Fillers: Products like flavored cereals frequently contain maltodextrin, added sugars and flavor enhancers to improve palatability.
Industrial Additives: To ensure shelf stability and consistent texture, these foods are often loaded with stabilizers, preservatives, and emulsifiers.
Even when a product claims to have "no added sugar," it can still be packed with sweeteners. Manufacturers frequently use fruit juice concentrates, corn syrup solids and glucose-based ingredients to enhance flavor.
These concentrated sugars train a baby’s developing palate. Early exposure to intense sweetness can create a lifelong preference for sugary foods, increasing the risk of poor dietary habits in adulthood.
2. "Natural Flavors"
The term "natural flavor" is often misunderstood. While the origin of the flavor must be a natural source, the final additive is often heavily modified in a laboratory.
These substances are engineered to make processed food taste more appealing than it naturally would, which can distort a child's appreciation for the taste of whole, fresh foods.
3. Stabilizers and Gums
To ensure a product looks perfect after sitting on a shelf for months, companies add stabilizers and industrial gums.
These additives create a permanent, uniform texture that prevents the food from separating or changing consistency during storage.
Hidden sweeteners: Sweeteners like dextrose, glucose syrup, malt extract, and corn solids are just fancy names for Sugar.
Go For Shorter lists: Avoid long lists of chemical sounding names.
Nutritious food: Babies require high nourished foods high in vitamins, minerals, healthy fats, and proteins rather than just calories.
Freshness: Fresh consistently provide higher levels of essential nutrients compared to any packaged or processed product.
Palate Programming: This stage establishes a child’s lifelong food habits. Processed baby foods can systematically eliminate whole food choices by training the child to prefer artificial textures and flavors.
Adulthood: Early nutrition is a key pillar of foundational health; the quality of food a baby eats now sets the biological template for their health in adulthood.
Natural Choices: Simple combinations such as mashed fruits, steamed vegetables, dal, khichdi, and curd provide essential nutrients without artificial components.
Minimal Processing: If buying packaged, choose single-ingredient products, plain vegetable purees or unsweetened cereals to avoid hidden flavors.
NOTE: A shorter ingredient list is always the safest and healthiest choice for your child.
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Endometriosis is traditionally defined by the presence of tissue similar to the lining of the uterus, the endometrium growing in locations where it doesn't belong, such as the fallopian tubes, ovaries and pelvic cavity.
Since this tissue is hormonally responsive, it bleeds and causes inflammation during a menstrual cycle.
While experts have long categorized this as a condition solely affecting women, rare clinical cases have shattered this assumption and revealed that the biological blueprint for endometriosis exists in the male body
as well.
They help in the formation of the uterus, cervix, fallopian tubes and upper vagina. However, men develop the Anti Mullerian Hormone, also known as AMH which regresses the formation of these ducts.
Men can develop the ducts when exposed to estrogen. Typically, those who are undergoing prostate cancer treatment, hormone replacement therapy or suffering from obesity take estrogen.
Consistent exposure to estrogen can actually transform those inactive cells or remnants of Mullerian Ducts into endometriosis tissues and pave the way for the development of the disease.
While the disease is almost diagnosed in women, documented cases in men confirm that they hold the biological potential to develop endometriosis.
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