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.”

Although we may not realize, many times the food we eat has hidden additives. Things that make the food taste good as well as addictive. In a recent video, a cardiologist is trying to warn people, asking them to check the labels behind their packaged food.

Dmitry Yaranov, a cardiologist based in Memphis, Tennessee, is trying to warn people that cardiovascular disease (CVD) isn't just caused by bad cholesterol. In a video posted on Instagram, he explained that there's a very common ingredient that's hidden everywhere—in sodas, snacks, sauces, and even foods that claim to be "healthy." This ingredient is a huge danger to your heart and is the main reason why people get diabetes. That dangerous ingredient is sugar.

How Sugar Slowly Increases Your Risk Of CVD?

Dr. Yaranov points to solid research that proves there is a strong link between eating sugar every day and having a much higher chance of getting heart disease.

Daily Servings

The risk goes up just by eating one serving of something sugary (like a soda or a candy bar) each day. That single serving is linked to an 18% higher risk of heart disease. If you have two or more servings a day, the risk jumps to 21% higher. This is a big deal, and the risk was found even in people who regularly exercise.

Processed Foods Link

A study from 2025 showed that eating a lot of sugar, especially the sugar found in ultra-processed foods (packaged snacks, ready meals, etc.), raises your risk for heart disease by 17%, increases the risk of blocked heart arteries by 23%, and raises the risk of stroke by 9%.

Global Impact

The problem is massive worldwide. High sugar eating is responsible for over 1 million new heart disease cases and 2.2 million new cases of Type 2 diabetes in just one year.

Mortality (Risk of Death)

The doctor also mentions a study that found people who got 25% or more of their total daily calories from sugar had more than double the risk of dying from heart disease compared to people who kept their sugar intake low (under 10% of total calories).

How Does Sugar Harm Your Body?

The cardiologist explains that sugar does more than just add unneeded calories; it actually attacks the healthy systems in your body that look after your heart and how your body uses energy.

• It causes inflammation (swelling and irritation) throughout the body.
• It causes your blood pressure to go up.
• It makes your cholesterol levels worse.

It messes up your blood sugar control, making it hard for your body to manage energy. This is a "double hit" because it harms both your heart and your pancreas (the organ that makes insulin).

How Much Sugar Can You Eat?

To help protect your health, the cardiologist advises everyone to follow the simple rules for sugar set by the American Heart Association (AHA):

Women: Should eat no more than 6 teaspoons of added sugar per day, about 100 calories worth.

Men: Should eat no more than 9 teaspoons of added sugar per day, about 150 calories worth.

The big issue is that most people eat two or three times these recommended limits without even knowing it because sugar is hidden in so many foods. The doctor strongly urges everyone to start checking food labels carefully and actively working to limit their sugar intake to keep their heart strong and their blood sugar stable.

A new study has found that a single blood pressure reading taken when a person is just 7 years old can have a surprisingly big impact on their risk of dying from cardiovascular disease (CVD), or heart problems, many years later. Researchers from different US universities discovered that children with high blood pressure faced a significantly greater chance of an early death because of heart issues. This finding tells us that screening children's health early is extremely important.

The study, published in the medical journal JAMA, highlights how important early health screenings are by showing a clear connection between a child's blood pressure and their long-term health outcome. Children who had elevated blood pressure, meaning it was higher than normal, in the top 10 percent of kids or high blood pressure, in the top 5 percent were about 40 to 50 percent more likely to meet an early death from heart and blood vessel disease. That's a huge jump in risk.

How Can Blood Pressure Predict How Long You Live?

Researchers explained that they were shocked to find out how elevated blood pressure could affect children later on in life. This means that this shows that health problems start much earlier than previously thought.

The team looked at medical records for 37,081 children born in the US between 1959 and 1965, specifically checking their blood pressure at age 7. They checked back in with these people in their early fifties. Out of this large group, nearly 500 people had died from cardiovascular diseases.

While the total number of people who died from heart-related issues in the study was small, the dramatic increase in risk for the group with high blood pressure was a very important finding that deserves attention.

How Does High Blood Pressure in Childhood Affect Mortality Rate?

There are a few things to keep in mind about this research. The biggest is that blood pressure was only measured once at age 7, not checked regularly throughout the people's lives. Also, the data comes from the 1950s and 1960s, so today's children might have different health challenges.

The researchers also looked at a smaller group of 359 people from the same families. Since the results were similar for children in the same households, it suggests that the high blood pressure itself is the main problem, rather than other things families share like diet or neighborhood.

Besides heart disease, high blood pressure can cause other serious problems like kidney disease, vision loss, and plaque buildup in the arteries. These results "highlight the importance of screening for blood pressure in childhood and focusing on strategies to promote optimal cardiovascular health beginning in childhood," Freedman concluded.

What Causes High Blood Pressure In Children?

High blood pressure (hypertension) in children and teenagers can happen for a few different reasons. Sometimes it's caused by lifestyle factors, and other times it's a side effect of another medical condition.

• If high blood pressure runs in the family, a child is more likely to develop it.
• Being overweight or obese significantly increases the risk.
• Black children are at a higher risk for high blood pressure, just as Black adults are.
• Eating too much salt (sodium) or too many calories can contribute to the problem.
• Having diabetes is a risk factor.
• Being born with a low birth weight or being born prematurely (too early).
• Disorders of the kidneys or problems with the heart or blood vessels.
• Certain hormonal disorders.
• Sleep apnea, a condition where breathing stops and starts during sleep.

Society often teaches people to expect mood swings, cramps, and general chaos when girls enter puberty. However, a healthcare professional suggests that this perspective may be causing people to miss important warning signs about a teen girl's overall health and well-being.

In an Instagram post, Holly Miller, OB/GYN (obstetrician and gynecologist) listed the things people often overlook when it comes to women’s health. The core message is that people should stop accepting certain struggles as "normal" and instead consider them as potential reasons to investigate deeper.

10 Ways People Often Dismiss Teen Girls’ Health

In the post caption, Dr Holly detailed 10 different things that people have normalized teen girls and their health concerns.

"She’s just moody."

Don't simply blame hormones; constant moodiness could point to serious mental health issues like anxiety, depression, or even PMDD. These conditions require professional support and should not be ignored.

"She’s always tired—probably just growing."

Extreme tiredness is often a sign of a real physical problem. It might be an iron deficiency, a thyroid imbalance, or a cortisol (stress hormone) issue caused by poor sleep or constant stress.

"Crippling period pain? Welcome to womanhood."

Pain that stops daily life is not normal. It could be endometriosis, a condition where tissue grows outside the uterus. The doctor reminds us this painful issue can begin when girls are very young.

"She’s gaining weight—probably eating too much."

Unexpected weight gain can signal deeper health problems. Look for PCOS (a hormone disorder), insulin resistance, or emotional eating as a way to cope with unacknowledged stress.

"She cries over everything—classic drama queen."

Crying often and intensely isn't always drama. It may be a sign of a trauma response where the teen’s nervous system is easily overwhelmed. Be compassionate and seek help.

"She’s super self-conscious—all teens are."

Intense focus on flaws is not just typical shyness. It could be body dysmorphia or a disordered eating pattern, which social media pressures can make much worse.

"Her acne is bad—part of being a teenager."

Severe acne can be a clue that something is off with her hormones. It often signals a hormonal imbalance caused by high male hormones (androgens) or an underlying condition like PCOS.

"She misses school during her period—she’ll toughen up."

Missing school due to periods is not normal. The true cause could be painful conditions like menstrual migraines, endometriosis, or PMDD, which are all treatable with the correct medical care.

"She’s embarrassed to talk about periods—normal!"

Shame around periods is often caused by a lack of proper education. It might mean she needs a safe and open space to ask questions and fully understand her own changing body.

"It’s just a phase—she’ll grow out of it."

Some teen troubles fade, but if you have a strong feeling that something is wrong, trust your gut. Don't wait; it's vital to speak up and advocate for the teen's health now.

The doctor concludes that people must recognize that not every struggle is "just hormones." If a daughter, niece, student, or any teen girl is struggling, it is not "overreacting" to ask questions and seek professional help; the doctor states that it is the smart and necessary thing to do.