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.”

Insulin resistance is a condition in which the body cannot effectively use insulin. Shockingly, this condition is now being linked to first-trimester miscarriages, especially in women with PCOS, with lab markers such as HbA1c and fasting insulin offering early clues. Therefore, it is essential for women to take charge of their health and maintain their blood sugar levels within the recommended range, as per Dr Sushruta Mokadam, Senior Consultant Obstetrician & Gynaecologist, Motherhood Hospital, Kharadi, Pune. The expert went on to talk about other aspects of the same, detailing just how first trimester miscarriages could be a consequence of ignoring high blood sugar or insulin resistance.

Why are miscarriages in the first trimester rising?

Currently, there is a surge in cases of miscarriages during the first trimester, which is raising concern among experts. This may be due to undiagnosed insulin resistance. Yes, that’s right—miscarriage is not only caused by infections, hormonal imbalance, or blood clotting disorders, but also by insulin resistance. Many women fail to pay attention to insulin resistance, which affects how the body processes sugar and plays a major role in causing hormonal imbalance. Women with Polycystic Ovary Syndrome (PCOS) are at a higher risk, as metabolic dysfunction can lead to miscarriage. Many women are experiencing repeated early pregnancy loss but are not screened for insulin resistance, leading to missed opportunities for early intervention.

How are miscarriages and insulin resistance linked?

Miscarriage and insulin resistance link: Insulin resistance occurs when the body’s cells do not respond properly to insulin, leading to higher blood sugar and insulin levels. This imbalance can impact ovulation and egg quality and interfere with the implantation of the embryo. In early pregnancy, it may affect placental development, increasing the risk of miscarriage in the first trimester. In women with PCOS, insulin resistance is commonly present, even in those who are not overweight.

The impact of insulin resistance on reproductive health

High insulin levels can lead to increased androgen (male hormone) production, further affecting reproductive health. This hormonal imbalance can make it difficult for a pregnancy to be sustained, especially in the early weeks, which may result in miscarriage. Lab tests such as HbA1c (which reflects average blood sugar levels over time) and fasting insulin levels can help identify at-risk women. Even subtle elevations in these markers, including those within the upper-normal range, can indicate underlying metabolic dysfunction that may increase the chances of miscarriage.

What to do?

Pregnant women should opt for regular screening, manage blood sugar levels, eat a balanced diet, and exercise daily before planning pregnancy. Even during pregnancy, they should stay in touch with an expert who can guide them throughout the process.

Blood pressure is one of the most important, yet overlooked, aspects of a healthy individual. Little do people realise that the force at which blood presses against the walls of the arteries can have a serious impact on long-term health—heart attack or stroke, for instance. Current guidelines from the American Heart Association state that adults should aim for a blood pressure reading of 130/80 millimetres of mercury (mm Hg). Some experts also say that this target is a little too aggressive for people who are prone to the side effects of blood pressure medication, such as falls and dizziness. But what would be the ideal blood pressure reading for older adults? Harvard Health experts have just answered this question.

Blood pressure reading in the 60s

According to recent studies, an intensive reduction in blood pressure in people aged over 60 is not only safe but is also associated with better outcomes than less aggressive treatment. According to a 2025 review, four randomised controlled trials were compared using two different strategies to control systolic blood pressure. The first aimed for a lower target, while the other strategy aimed for a higher systolic pressure. The trial included 2,600 people aged 75 years and older. Compared with a less aggressive strategy, there was a 39 per cent reduced risk of heart problems such as heart failure, heart attack, or stroke. There was also a 45 per cent lower risk of heart disease-related deaths.

Additionally, researchers noted no differences in the rates of adverse events such as fractures, low blood pressure, cognitive decline, or falls. Upon expanding the analysis, the same conclusions held true for people aged 70 years and above.

Rising hypertension risk

The risk of hypertension rises significantly with age. Among ageing adults, it is known as essential hypertension, as it helps deliver a sufficient amount of blood to the brain. With age, the blood vessels become less flexible and stiffer. Therefore, to reach the brain, an extra push is needed—as a result, systolic blood pressure can rise to as high as 150 mm Hg in people aged 65 years and above.

Doctors, however, are reconsidering their approach to hypertension treatment in older adults. The recent findings suggest that many older people should aim to keep their systolic pressure below 130 mm Hg. This may require a combination of lifestyle changes and medication.

Can one medication work?

According to experts, one medication may not be sufficient to achieve ideal blood pressure. A single drug usually works well to lower blood pressure by an average of 5 to 10 points. Using a lower dose of two different blood pressure medicines is more effective than maximising the dose of one drug. This approach is also less likely to result in side effects.

The relationship between chronic stress and liver health is a complex physiological loop driven largely by cortisol, the body’s primary stress hormone. While the liver is often viewed as a detox organ, it is highly responsive to hormonal signals, especially during prolonged stress. But at a time when competition is at its all-time peak in every aspect of life, be it work or school, it is a no-brainer that stress levels are peaking across age groups. That being said, Dr. Tushar Madake, Consultant, Department of Transplant Hepatology at Ruby Hall Clinic, Pune, spoke about the impact of high cortisol on the liver.

What is cortisol?

When stress becomes chronic, the adrenal glands continuously release cortisol. The liver, rich in glucocorticoid receptors, responds by shifting into a survival mode. In short-term situations, this helps by releasing glucose into the bloodstream for quick energy. However, when stress persists without physical activity, this constant signal disrupts normal metabolism.

The impact of high cortisol levels

One major effect is increased glucose production, where the liver generates sugar from non-carbohydrate sources. Over time, this leads to consistently high blood sugar and forces the pancreas to produce more insulin, eventually contributing to insulin resistance. At the same time, cortisol promotes the release of fatty acids into the bloodstream. The liver absorbs these fats but struggles to process and export them efficiently, leading to elevated triglycerides and unhealthy cholesterol levels.

How does stress affect the liver?

Stress also drives fat storage in the abdominal region and within the liver itself. This can result in fatty liver disease, even in individuals without poor dietary habits. As fat accumulates, inflammation follows. Liver immune cells release inflammatory substances, creating oxidative stress that damages liver cells. Additionally, when the liver is overloaded with managing excess glucose and fat, its ability to detoxify the body declines. Hormone balance, toxin clearance, and medication metabolism are all affected.

Stress can also impair bile flow, which is essential for fat digestion and toxin removal. Reduced bile movement further worsens internal imbalance. Ultimately, chronic stress keeps the liver in a constant state of overdrive, leading to long-term metabolic strain, inflammation, and gradual liver dysfunction.