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.”

Your weight not only affects your heart health but also your brain health. A recent study published in the Journal of Clinical Endocrinology & Metabolism has revealed a powerful connection between your body weight, heart and brain.

After studying over 500,000 people, scientists discovered that having a high Body Mass Index (BMI) can nearly double your chances of developing brain-related illnesses later in life, which confirms that being overweight and having high blood pressure are not just general health concerns, they are direct causes of dementia.

How Does Your Weight Affect Brain Health?

The study focused heavily on vascular dementia, a specific type of memory loss that occurs when the brain is damaged because of a lack of blood flow.

Think of your blood vessels like a system of pipes. If those pipes are narrowed or blocked due to weight-related issues, the "engine" (your brain) doesn't get the fuel it needs. Over time, this lack of oxygen and nutrients leads to permanent brain damage and the loss of memory and thinking skills.

Researchers found that high blood pressure, often caused by carrying extra weight, is the main "middleman" in this process. Blood pressure is measured with two numbers, and both play a part in brain health:

Systolic

This is the pressure when your heart beats. It accounts for about 18 percent of the link between obesity and dementia.

Diastolic

This is the pressure when your heart rests between beats. It accounts for about 25 percent of the link. When these numbers stay high, they constantly "batter" the delicate vessels in the brain, causing them to weaken or clog.

How Weight Affects the Brain

Beyond just blood flow, a high BMI impacts the brain in several other ways:

Increased Inflammation

Obesity often causes the body to be in a constant state of "alarm" or inflammation. This can irritate the immune system and eventually damage brain cells.

Metabolism Issues

When the body struggles to process energy and food properly, it changes how the brain uses energy, which can lead to cognitive decline.

Heart Strain

A heart that has to work harder to pump blood through a larger body eventually becomes less efficient at sending blood all the way up to the brain. Your heart essentially has to do twice as much work as it would at a lower weight.

Can Preventing Obesity Help Dementia?

The most encouraging takeaway from this study is that dementia isn't always a matter of bad luck or "old age." Researchers call this an unexploited opportunity.

By managing your weight and blood pressure early in life, through a healthy diet, consistent exercise, and good sleep, you are essentially "dementia-proofing" your brain. The researchers suggested that intervening early, possibly even with weight-loss medications before symptoms start, could be a key strategy for protecting brain health in the future.

How Much Does Obesity Affect Worldwide?

According to the World Health Organization, one in eight people in the world are living with obesity. In 2022, about 2.5 billion adults were overweight. Causes of it vary, from things like diseases or chronic conditions, to the kind of food that is available to consume.

Heart attacks need immediate intervention and Dr. Balbir revealed one medicine that can save a life when this happens: Aspirin. In an interview with HealthandMe, Dr. Singh revealed that one does not need fancy equipment to help a person having a heart attack.

“If the history of the family history or cholesterol or diabetic. This patient is at risk, so what is the medicine if you get such a symptom? Aspirin.”

What Medicine Can Help a Heart Attack?

Dr. Singh points out that if you or someone near you begins to experience symptoms of a heart attack, such as heavy chest pain, pressure, or unexplained sweating, taking a dissolvable aspirin immediately can be a lifesaver.

By dissolving a tablet (like Dispirin) in a glass of water and drinking it, the medicine dissolves into the bloodstream much more quickly than simply ingesting it.

Aspirin works by thinning the blood and preventing further clotting in the arteries, which can stop a heart attack from getting worse before medical professionals arrive.

Other Preventative Measures To Take For Heart Attack

Before medical professionals arrive, performing CPR can also help save a person's life; however, one must know the right way to do CPR.

While speaking to HealthandMe, Dr Singh mentioned a viral video where a person collapses and someone attempts to give them CPR while they are still sitting in a chair, notng that this was 'a dangerous mistake' and people should steer clear away from such false videos.

He explained that you cannot perform CPR on someone who is sitting up as the body must be positioned correctly for the heart and lungs to receive the benefit of the chest compressions.

Without the proper technique, blood will not reach the brain and your efforts will not help the patient. Understanding the proper sequence of events is the difference between a failed attempt and a saved life.

Step 1: The Importance of Positioning

If someone collapses, immediately place them flat on their back on a hard floor. You need the ground's resistance to pump the heart manually. In this position, the heart is "sandwiched" between the rib cage and spine. On a soft bed, your presses will fail to squeeze the heart effectively.

Step 2: Focus on the Heart First

Dr. Singh emphasizes that restarting the heart is the absolute priority. Place both hands in the center of the chest and use your body weight to press firmly. By pushing the rib cage toward the spine, you force the heart to pump. Often, once circulation starts, the patient begins breathing again spontaneously.

Step 3: The Proper CPR Sequence

If the person doesn't wake up, begin a rhythm of three chest presses followed by one mouth-to-mouth breath. Lock your elbows and press hard to ensure the heart is being squeezed between the bones. This specific cycle keeps oxygenated blood moving to the brain, preventing permanent damage during a cardiac emergency.

How Common Are Heart Attacks?

According to the Centers for Disease Control and Prevention, heart attacks claim a life every 34 seconds. In 2023, it caused nearly 920,000 deaths, one in every three recorded. Hence it is important to know not just the ways to help when someone has a heart attack but also how to prevent them.

Heart attacks need immediate intervention, and Dr. Balbir revealed one medicine that can save a life when this is happening: Aspirin. In an interview with HealthandMe, Dr. Balbir Singh revealed that one does not need fancy equipment to help a person having a heart attack.

“If the history of the family history or cholesterol or diabetic. This patient is at risk, so what is the medicine if you get such a symptom? Aspirin.”

What Medicine Can Help a Heart Attack?

Dr. Singh points out that if you or someone near you begins to experience symptoms of a heart attack, such as heavy chest pain, pressure, or unexplained sweating, taking a dissolvable aspirin immediately can be a lifesaver.

By dissolving a tablet (like Dispirin) in a glass of water and drinking it, the medicine enters the bloodstream quickly.

Aspirin works by thinning the blood and preventing further clotting in the arteries, which can stop a heart attack from getting worse before medical professionals arrive.

Other Preventative Measures To Take For Heart Attack

Before medical professionals arrive, doing CPR also helps; however, one must know the right way to do CPR.

There is a lot of misinformation online. Dr. Singh mentions a viral video where a person collapses and someone attempts to give them CPR while they are still sitting in a chair. This is a dangerous mistake.

He explained that you cannot perform CPR on someone who is sitting up. The body must be positioned correctly for the heart and lungs to receive the benefit of the chest compressions. If the technique is wrong, the blood will not reach the brain, and your efforts will not help the patient. Understanding the proper sequence of events is the difference between a failed attempt and a saved life.

Step 1: The Importance of Positioning

If someone collapses, immediately place them flat on their back on a hard floor. You need the ground's resistance to pump the heart manually. In this position, the heart is "sandwiched" between the rib cage and spine. On a soft bed, your presses will fail to squeeze the heart effectively.

Step 2: Focus on the Heart First

Dr. Singh emphasizes that restarting the heart is the absolute priority. Place both hands in the center of the chest and use your body weight to press firmly. By pushing the rib cage toward the spine, you force the heart to pump. Often, once circulation starts, the patient begins breathing again spontaneously.

Step 3: The Proper CPR Sequence

If the person doesn't wake up, begin a rhythm of three chest presses followed by one mouth-to-mouth breath. Lock your elbows and press hard to ensure the heart is being squeezed between the bones. This specific cycle keeps oxygenated blood moving to the brain, preventing permanent damage during a cardiac emergency.

How Common Are Heart Attacks?

According to the Centers for Disease Control and Prevention, heart attacks claim a life every 34 seconds. In 2023, it caused nearly 920,000 deaths, one in every three recorded. Hence it is important to know not just the ways to help when someone has a heart attack but also how to prevent them.