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.”

Once widely known as non-alcoholic fatty liver disease (NAFLD), the common and dangerous fatty liver condition was rephrased as Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) due to its strong link to metabolic health issues like obesity and diabetes.

MASLD now includes patients with fatty liver disease linked to metabolic risk factors such as obesity, diabetes, and hypertension.

MASLD: So What Prompted The Change?

Globally, it was observed that all patients who have non-alcoholic fatty liver disease also have some associated form of metabolic dysfunction. The patients reported having either obesity, diabetes, metabolic syndrome, hypertension, or cholesterol problems.

And all these problems eventually lead to significant comorbidities later, like some people developed heart disease, while others developed complications of diabetes.

In view of these, a global consensus process in 2023 involving hundreds of experts from different countries adopted MASLD as it better reflected these underlying causes of the condition.

What Does MASLD Mean?

Also read: Lancet Study Shows Metabolic Liver Disease To Rise Over 38% By 2050: What’s Behind The Surge

MASLD is an umbrella term for liver conditions that develop in the presence of 1 or more cardiometabolic risk factors—including high blood sugar, elevated body mass index (BMI), and hypertension—but in the absence of other causes of liver fat accumulation.

The condition can be defined by excess liver fat accumulation (more than 5 per cent of liver weight) in the presence of metabolic dysfunction, independent of alcohol intake.

It encompasses a spectrum from simple steatosis to steatohepatitis, fibrosis, cirrhosis, and hepatocellular carcinoma.

“Initially, it was thought that having fatty liver disease without alcohol was a benign condition, but now it is recognized that, since it is associated with lots of metabolic comorbidities, it's no longer benign,” Dr. Ashish Kumar, Professor of gastroenterology and hepatology at Sir Ganga Ram Hospital in New Delhi, told HealthandMe.

He stated that whenever a diagnosis of fatty liver is present, "we should actually include other comorbidities, like obesity, dyslipidemia, which means cholesterol problem, diabetes, sugar problem, pre-diabetes, and hypertension. At least 50–70–80 percent of these patients will have one or more of these comorbidities".

Why Alcohol Is Not The Only Culprit For Fatty Liver

Although alcohol has remained the number one risk for liver disease, MASLD seems to be rising globally, including among people who do not drink. Why?

The reasons include:

a sedentary lifestyle,

increased consumption of fast and processed food,

lack of exercise,

lack of sleep,

stressful life.

Also read: Why Regular Scans Are Crucial for Liver Cancer Patients: Doctors Explain

The experts noted that food, especially the increasingly accessible junk food or processed food, is a major culprit.

“So even if the person is not drinking alcohol, people are developing addiction to processed food, and this is causing an epidemic level of obesity and diabetes. Consequently, MASLD is also increasing, and now it is becoming the number one cause of liver disease,” Dr Kumar said.

How To Prevent MASLD?

According to Dr. Sanjay Goja, Director, Liver Transplant & HPB Surgery, Narayana Hospital, Gurugram, prevention must focus on following a healthy lifestyle like maintaining a healthy BMI, engaging in regular physical activity, and eating a balanced diet.

Controlling diabetes, cholesterol, and blood pressure is also important to prevent the risk of MASLD.

Dr Siddharth Badola, Manipal Hospital, Ghaziabad, suggested sustainable lifestyle changes such as:

Maintaining an adequate body weight: Even slight weight loss (5–10 percent) has been shown to significantly reduce liver fat and inflammation.

Follow a balanced and nutrient-rich diet: People should focus on consuming whole grains, fresh fruits and vegetables, lean proteins, and healthy fats, while limiting refined carbohydrates and processed foods.

Avoid foods with added sugar: Excess consumption of fructose, commonly found in packaged foods and sugary beverages, is a key contributor to fat accumulation in the liver.

Engage in regular physical activity: At least 150 minutes of moderate-intensity exercise per week is recommended to improve insulin sensitivity and liver health.

Manage associated metabolic conditions: Effective control of diabetes, hypertension, and dyslipidemia is essential in reducing the risk of MASLD progression.

Ensure adequate sleep and stress management: Poor sleep quality and chronic stress can negatively impact metabolic balance and liver function.

Keep your body hydrated with ample water intake and follow structured meal timings.

Although a heart attack is generally considered a disease of the elderly, its incidence in young individuals is unfortunately on the rise. The reasons behind this are multifactorial. A heart attack is a condition where one of the arteries (blood vessels) suddenly becomes partially or completely occluded by a thrombus. Although the thrombus generally occurs suddenly, the underlying reason is a chronic process of lipid deposition in the vessel walls called atherosclerosis. Atherosclerosis can begin even in the first decade of life, but events like heart attacks conventionally occurred beyond 45 years in men and 55 years in women. On average, heart attacks occur in Indians about 10 years earlier than in their Western counterparts.

Dr Shyam Sasidharan, Consultant, Department of Cardiology, KIMSHEALTH Thiruvananthapuram, spoke about the early onset of heart attacks. From a population perspective, the rising number of heart diseases due to coronary artery disease (CAD) is significant not only because of its overall negative impact on the healthy population but also due to the potential for preventive interventions.

Heart attacks among younger people

Acute coronary syndromes, or heart attacks, are on the rise among younger individuals, particularly in our country. Studies of the Asian-Indian migrant population have revealed a probable racial predisposition for premature CAD. However, the majority of the risk can still be attributed to the increased incidence of conventional CAD risk factors in young people, such as obesity, inactivity, diabetes, hypertension, and dyslipidaemia.

Smoking and substance abuse are resulting in more heart disease among the young. Lesser-discussed, unconventional risk factors, such as mental stress, lack of healthy employment practices, environmental pollution, and lack of proper food safety regulations, are in fact contributing significantly to this silent epidemic. COVID-19 infection as well as vaccination were widely attributed as causes of heart attacks in young people, but without adequate scientific evidence.

How to reduce heart disease risk in your 30s?

1. Creating awareness: The most important step towards prevention is creating awareness. Awareness regarding heart disease risk factors, healthy lifestyle choices, early symptoms of heart attack, and the need for timely medical attention is crucial.
2. Diet and physical activity: With rapid urbanisation and industrialisation, a nutritional transition is occurring in India. An increase in refined sugars, fats, and processed foods sets the stage for premature heart disease. Efforts to increase physical activity to at least 30 minutes of moderate activity per day, for five days a week, need to be promoted.
3. Prevention programmes: Programmes targeting the prevention of early development of lifestyle diseases such as diabetes, hypertension, and dyslipidemia need to be extended to younger individuals. Improving access to medical services across all social strata can enhance prevention, early detection, treatment, and reduction in morbidity and mortality from heart diseases.
4. Political will: Efforts to curb pollution, promote a better work culture, and enforce strong legislation for food safety will go a long way in not only preventing early heart disease but also promoting the overall health of the population.
5. Preventive health check-ups: At an individual level, promoting healthy habits and undergoing regular health check-ups can contribute significantly towards early detection of risk factors as well as early diagnosis of heart disease itself.
6. Improving mental health: There should be more discussions and interventions focused on overall mental health, work–life balance, and happiness, as these are known to impact heart health.

Women can play a major role in preventing as well as eliminating Chagas Disease, a potentially life-threatening neglected tropical disease that affects 8 million people globally and causes 10,000 deaths every year, according to UN agencies.

World Chagas Disease Day is observed every year on April 14 to raise awareness around the disease, and the impact it has on lives.

In a statement, the Pan American Health Organization (PAHO) and the Global Chagas Coalition urged health authorities to make women central to the fight against the disease and to empower them to make early detection, prevention, and care.

“Eliminating Chagas disease as a public health problem requires placing women at the center of diagnosis, treatment, and care strategies,” said Dr. Jarbas Barbosa, PAHO Director.

“Ensuring timely access to quality health services, particularly for women of reproductive age, is essential to prevent new infections and advance toward the elimination of congenital Chagas disease in the Region of the Americas,” he added.

What Is Chagas Disease?

Chagas disease, also known as American trypanosomiasis, is a illness caused by the parasite Trypanosoma cruzi, and is primarily transmitted by triatomine insect vectors.

It gets spread through

• oral transmission,
• blood transfusion,
• mother-to-child.
• through transplants of some organs (such as heart or kidney)
• through laboratory accidents.

If left untreated, one third of infected people—including women and the children they carry—will develop life-altering heart, digestive, and even neurological conditions, and may even become fatal.

Once endemic to 21 countries in Latin America, the disease has now spread globally due to migration. It is now a global health concern with cases found in 44 countries including the US, Canada, Europe, Australia, and Japan.

World Chagas Disease Day 2026: Theme

World Chagas Disease Day was celebrated for the first time in 2020.

The theme this year is “Women at the heart of care, protecting the next generation” and underscores the key role women play in family and community caregiving, as well as their greater interaction with health services, particularly during pregnancy.

Chagas Disease: Role Of Women

According to the World Health Organization (WHO), about 2 million women aged 15-44 years are living with Trypanosoma cruzi infection worldwide.

Congenital transmission or mother-to-child transmission remains a major challenge, occurring in about 3–5 percent of pregnancies. However, it also provides a key opportunity for effective intervention.

The transmission cycle of the disease can be effectively broken by

• Treating infected girls and women before pregnancy
• Strengthening screening in maternal and child health services
• Eaccess to diagnosis and treatment.
• Newborn screening can help diagnose and treat, with a cure rate exceeding 90 percent.
• Increase awareness at community and family levels.
• Avoid foodborne transmission

“On the contrary, it represents a strategic opportunity to strengthen more equitable, accessible, and responsive health systems that recognize and respect women’s needs.”