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.”

Epilepsy is one of the most common neurological disorders and a leading cause of disability worldwide. Research has suggested that associated conditions, such as stigma, anxiety, and depression, can sometimes be more debilitating than the seizures themselves.

Stigma related to epilepsy can exist at both societal and individual levels, with many patients experiencing feelings of shame, fear, discrimination, and social isolation.

Now, research led by AIIMS New Delhi has suggested that yoga may help reduce epilepsy-related stigma while also improving seizure control. The 2023 study, published in Neurology, found that yoga-based interventions may offer benefits for both mental well-being and disease management.

“Yoga has been clinically proven to reduce the ‘felt stigma’ associated with epilepsy. By alleviating anxiety and improving both mindfulness and overall quality of life, mind-body interventions empower individuals to feel more in control and less socially isolated,” lead author Dr. Manjari Tripathi, Head of the Department of Neurology at AIIMS, told HealthandMe.

What Did the Study Find?

According to Dr. Manjari, the study identified three key benefits of yoga for people living with epilepsy:

• Stigma Reduction: Patients who participated in a six-month yoga and psychoeducation program reported a significant reduction in perceived stigma compared with the control group.

• Improved Seizure Control: The yoga intervention was associated with a higher rate of seizure reduction. "Participants were more than four times as likely to experience a greater than 50% reduction in seizures and were significantly more likely to achieve complete seizure remission," Dr. Manjari told HealthandMe.

• Better Mental Health: Yoga practice was linked to lower anxiety levels, improved emotional regulation, and reduced cognitive impairment.

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Dr. Rajesh Sagar, Professor of Psychiatry at AIIMS, told HealthandMe that yoga reduced the burden of epilepsy and improved the overall quality of life in epilepsy patients by reducing the perceived stigma. The overall quality of life was also improved in the yoga group.

How Was the Study Conducted?

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Researchers conducted a randomized clinical trial involving 160 adults with epilepsy who were followed for six months. Participants were assigned either a structured yoga program or a sham yoga intervention, while both groups also received epilepsy-related psychoeducation.

The yoga program included loosening exercises , breathing techniques, meditation, and positive affirmations.

While the impact on seizure frequency was reduced compared with the control group, the researchers cautioned that larger studies are needed to conclusively determine the effect of yoga on seizure control.

Yoga For Mental Health

Further, mood disturbances have been common among people with epilepsy and often remain inadequately addressed, particularly in developing countries.

According to the researchers, yoga may offer a scalable and accessible option for helping patients manage these challenges alongside conventional treatment.

Dr. Rajesh further told HealthandMe that yoga has well-established benefits for mental health.

“Yoga is important in mental health care, and it has been found that the three important things, which are pranayama, that is, breathing techniques, asanas, that is, physical posture, and dhyana, that is, meditation, have a positive effect on anxiety and even depression, and also improve sleep".

He added that yoga can help reduce stress, improve mood, lower anxiety levels, and enhance sleep quality.

“There is substantial evidence from around the world showing that yoga can benefit people living with certain mental health disorders,” he said.

Every morning, millions begin their day with a quick breakfast and blood pressure (BP) medication swallowed mechanically. But what happens when BP remains uncontrolled despite medicines? Uncontrolled hypertension is one of the most underestimated health threats. Often called the silent killer, it quietly damages the heart, brain, kidneys, and blood vessels.

The BP reading on the cuff captures only a visible measurement. BP that remains above goal over time despite treatment is concerning. Hypertension affects approximately 1.4 billion adults worldwide. Studies suggest that almost 54% of Indian patients have uncontrolled hypertension even while taking ≥2 medications. Thus, treatment does not necessarily mean control.

Why Does BP Control Matter?

Global organizations recommend stricter BP targets, aiming for readings below 130/80 mmHg or even 120 mmHg if tolerated. Studies show that each 10 mmHg reduction in systolic BP can decrease the risk of major cardiovascular events by 20%, stroke by 27%, heart failure by 28%, and death by 13%.

On the other hand, uncontrolled hypertension increases the risk of heart attacks, strokes, heart failure, end-stage kidney disease, type 2 diabetes, and death.

But What If The Numbers Don’t Change Despite Medication?

In persistently uncontrolled hypertension that other causes cannot explain, a hidden culprit called aldosterone is an under-recognized driver. Normally, aldosterone balances sodium and water to regulate BP.

However, in patients with uncontrolled hypertension, aldosterone production may remain abnormally high, causing sodium and fluid buildup, increasing BP.

Approximately 30% of patients with hypertension may have aldosterone dysregulation, and patients with resistant hypertension, obesity, type 2 diabetes, sleep apnea, and hypokalemia are at greater risk. Nearly 10–20% of patients with hypertension are treatment resistant, increasing their risk. In these patients, aldosterone dysregulation could be an important cause.

It is time to look beyond the cuff, as uncontrolled hypertension is a chronic, progressive, and often silent condition with serious consequences. Improving patient outcomes requires greater urgency, earlier intervention, better treatment optimization, and stronger awareness of underlying drivers such as aldosterone.

It is time to identify and treat the root causes of uncontrolled hypertension, so that patients can regain lasting BP control.

Inflammatory bowel disease (IBD), which includes Crohn's disease and ulcerative colitis, affects millions of people worldwide. The lifelong condition commonly begins in adolescence or early adulthood and can require repeated hospital treatment, long-term immunosuppressive medication, and, in some cases, surgery.

Despite advances in treatment, many patients cycle through multiple therapies without achieving lasting disease control, impacting their lives and costing healthcare systems millions.

Now, a team of UK researchers from the Universities of Oxford, Newcastle, and Cambridge has identified an important driver of inflammatory bowel disease (IBD).

The findings, published in the New England Journal of Medicine, suggest that inflammatory bowel disease is not a single condition but a group of biologically distinct diseases driven by different underlying mechanisms.

"Understanding what drives the inflammation provides a clear explanation for disease in this group of people and opens the door to new treatments that target the autoantibodies themselves or cells that produce those autoantibodies," said Professor Holm Uhlig, a pediatric gastroenterologist and director of the Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford.

What Did the Study Find?

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The researchers analyzed more than 4,900 patients with IBD and discovered that:

• A substantial subset of patients shows autoimmune responses to one of the guardians of the immune system, interleukin-10 (IL-10), which leads to uncontrolled inflammation.
• This damaging immune response is the mechanism for one of the strongest known genetic risk factors for IBD.

Antibodies that block interleukin-10 (IL-10), a cell-to-cell messenger that normally acts as one of the body's key controls on inflammation, effectively remove the immune system's natural "brake" on inflammation, allowing inflammatory responses to continue unchecked.

The researchers found high levels of anti-IL-10 neutralizing autoantibodies in the blood of about 3.5% of IBD patients, including those with Crohn's disease and ulcerative colitis, but not in healthy individuals. This could equate to 15,000–20,000 people with IBD in the UK carrying these autoantibodies.

The Genetic Link

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The researchers also found that the presence of these antibodies was strongly linked to carriage of a particular genetic variant known as HLA-DRB1*01:03.

The link between HLA-DRB1*01:03 and a severe form of inflammatory bowel disease was first identified by Oxford researchers 30 years ago.

The new findings show that people carrying this variant are far more likely to develop antibodies that block IL-10, helping explain how the gene contributes to disease.

What Could This Mean for Patients?

The researchers say the findings support the development of a blood test to identify this subgroup of patients, helping clinicians move quickly toward more appropriate treatment.

What Is IBD?

As per the Centers for Disease Control and Prevention (CDC), IBD refers to a group of lifelong diseases that affect your intestines. The main types of IBD are ulcerative colitis and Crohn's disease.

Ulcerative colitis affects the large intestine, while Crohn’s disease can inflame any part of the digestive tract. Both are lifelong conditions of unknown cause that trigger abdominal pain, diarrhea and other complications, with no known cure.

What Are The Symptoms Of IBD That People Usually Ignore?

• Diarrhea or changes in bowel movements
• Stomach pain
• Fatigue
• Nausea
• Weight loss

• Dehydration
• Increased risk of colon and rectal cancers
• Low red blood cell count (anemia)
• Reduced bone density
• Joint pain
• Skin changes
• Eye irritation
• Delayed or impaired growth in some children.