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.”

Billionaire entrepreneur Bryan Johnson, known for meticulously tracking his health and pursuing longevity, recently revealed that he has been diagnosed with Autoimmune Gastritis, an incurable autoimmune condition in which the body's immune system attacks the stomach lining.

Describing the disease on social media platform X, Johnson said: "My stomach is eating itself." He also noted that despite undergoing extensive medical evaluations over the years, the condition went undetected because autoimmune diseases often develop quietly, with symptoms that can easily be mistaken for everyday health issues such as fatigue or digestive discomfort.

According to the Centers for Disease Control and Prevention (CDC), autoimmune diseases occur when the immune system mistakenly attacks the body's own healthy cells and tissues, triggering inflammation and damage to organs or other body systems.

The burden of these conditions is significant. In May 2025, researchers from the Mayo Clinic and collaborating institutions estimated that nearly 15 million Americans are living with one or more of 105 recognized autoimmune diseases.

Symptoms Can Be Easy to Miss

Because autoimmune diseases often begin with vague, non-specific symptoms, they can remain undiagnosed for months—or even years.

Dr. Cory Rice, a US-based Functional Medicine physician, said these warning signs frequently go unnoticed until the disease has progressed.

"First and foremost, symptoms of autoimmune disease can come and go, and be on and off, or they can be more persistent in nature," he told Newsweek.

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The Hidden Signs You Shouldn't Ignore

While symptoms vary depending on the various autoimmune conditions, several early warning signs are shared across many autoimmune diseases.

According to Dr. Rice, common symptoms include:

• Fatigue
• Low-grade fever
• Joint pain
• Unexplained rashes or hives
• Dry eyes and dry mouth
• Numbness or tingling in the hands or feet
• Mouth ulcers
• Increased sensitivity to cold temperatures

He said when people suffer from fatigue, "it is usually both profound and debilitating."

Dr. Rice explained that many people try to manage this overwhelming exhaustion by relying on caffeine and other stimulants, taking thyroid medications or hormone treatments, or opting for therapies such as intravenous infusions and vitamin B12 injections.

However, when an underlying autoimmune disease is responsible, these approaches often fail to provide lasting relief.

Read More: Can Arsenic, Lead and Other Metals In Tampons Pose A Health Risk? FDA Says No

Why Autoimmune Diseases Are Often Diagnosed Late

One of the biggest challenges in diagnosing autoimmune diseases is that their symptoms overlap with those of many other medical conditions.

Johnson also said that "2-5 per cent of people have this (autoimmune disease). Likely more, because it hides".

Symptoms may also appear intermittently before becoming more persistent.

"It all depends on the disease process in play and the severity or progression of the disease itself in a particular person as to whether symptoms are more constant or intermittent," Rice said.

He added that many primary care physicians are not routinely trained to identify autoimmune diseases in their early stages. As a result, patients are frequently referred to specialists, including rheumatologists, only after symptoms have become more pronounced.

"Unfortunately, by this point, the autoimmune disease may already be far along in whichever parts of the body are impacted," he said.

Dr. Rice emphasized that recognizing symptoms early and obtaining a timely diagnosis can help slow disease progression and improve long-term outcomes.

The United States is currently experiencing one of its worst Cyclospora outbreaks in recent years, with health officials still unable to determine the source of the infections.

According to the latest data, the outbreak has spread across at least 18 states. Michigan has reported at least 1000 cases, emerging as the hardest-hit state. With around 40 hospitalisations, no deaths have been reported so far.

Cyclospora Outbreak In The US

The outbreak is being investigated by the U.S. Centers for Disease Control and Prevention (CDC), the U.S. Food and Drug Administration (FDA), and state health departments. Investigators have not yet identified a single contaminated food source.

Several other states have also reported rising case counts. New York City has confirmed hundreds of infections since May. Health officials believe the actual number of infections is likely higher because Cyclospora is not routinely tested for in people with diarrhea. Symptoms usually begin about one week after exposure and can last weeks if untreated.

Also read: Walked Through Floodwater Recently? 5 Things To Do After Reaching Home To Minimise Risk Of Infections

About Cyclospora

A Cyclospora infection can be mild or severe and may last for weeks or even months. It is typically treated with antibiotics. People with weakened immune systems, such as those with HIV/AIDS or cancer, are at greater risk of severe disease.

Cyclospora infection commonly causes:

• Prolonged watery diarrhea
• Severe abdominal cramps
• Fatigue
• Loss of appetite
• Nausea
• Weight loss
• Bloating

Health authorities in the US continue to advise people to wash fresh produce thoroughly, maintain good hand hygiene, and seek medical care if they develop prolonged watery diarrhea, especially if symptoms persist for several days.

Does India’s Monsoon Raise Risk Of Cyclospora?

While there is no indication of a similar outbreak in India, infectious disease experts say the country's monsoon season creates conditions that can facilitate the spread of intestinal parasites if food and drinking water become contaminated.

HealthandMe spoke to Dr. Devashish Desai, Consultant, Infectious Diseases at Ruby Hall Clinic, if India, too, faces a possibility of a parasitic infection like cyclospora, especially in monsoon season.

Dr Desai said, “The answer is yes. India's monsoon creates conditions that favour the spread of several water and food-borne infections, including Cyclospora. Heavy rainfall can contaminate drinking water sources and fresh fruits and vegetables with sewage or infected soil. Consuming raw salads, unwashed herbs, or untreated water significantly increases the risk of infection.”

Unlike bacteria, cyclospora parasites require time in the environment before they become infectious, meaning direct person-to-person transmission is uncommon. Instead, contaminated food and water remain the primary sources of infection. This makes maintaining hygiene from farms to kitchens essential for prevention.

The expert added, “Although Cyclospora outbreaks are not commonly reported in India, the environmental conditions during the rainy season make vigilance essential. Strong food safety practices, clean water, and good personal hygiene remain the most effective defences against this preventable parasitic infection.”

Although India has not reported a similar outbreak, experts say the current situation in the US is a stark reminder that food safety and sanitation become even more critical during the monsoon.

For millions of people living with diabetes, the condition is not managed in moments; it is managed in the countless choices made between moments. From planning meals and staying active to monitoring glucose levels and following treatment schedules, people living with diabetes make countless decisions every day that shape their long-term health.

In clinical practice, we often see that the success of treatment is determined not only by how effective a therapy is, but also by whether it can be realistically sustained over years and decades. This is why the future of diabetes care must move beyond advancing therapies alone and focus on developing treatment approaches that are simpler, more flexible, and designed around patients' lives.

Diabetes In India: A Growing Public Health Challenge

Despite being one of the most widely recognized health conditions today, diabetes is still often misunderstood as simply a condition of “high sugar levels”. In reality, it is a metabolic disorder that develops when the body either does not produce enough insulin or is unable to use insulin effectively.

While genetic factors play an important role, rapid urbanization, sedentary lifestyles, changing dietary patterns, and rising obesity have contributed significantly to its increasing prevalence. Today, nearly 101 million adults in India are living with diabetes, according to the ICMR-INDIAB study.

Why Early And Consistent Diabetes Care Matters

With diabetes, time itself becomes a critical risk factor; the longer a person lives with the condition, the more severely it affects multiple organ systems. Diabetes can affect the heart, kidneys and nerves, with complications developing silently over several years. While improvements in the management of key cardiometabolic risk factors such as blood pressure, lipids and glycaemia have helped improve outcomes in several areas, lifestyle-related factors continue to contribute to long-term risks. This highlights the need for early risk identification, timely intervention and continuous monitoring to reduce the long-term burden of disease.

The Daily Burden Of Living With Diabetes

The progressive nature of diabetes also means that care is not limited to clinic visits; it extends into everyday life. It requires individuals to make repeated decisions throughout the day, and this constant cognitive load can become overwhelming, often leading to treatment fatigue and difficulty in maintaining consistent control.

Thus, treatment adherence is one of the strongest determinants of diabetes control. Yet real-world adherence is shaped by multiple overlapping factors. Limited understanding of the disease and its often-silent progression, along with psychological challenges such as anxiety or depression, can affect a person’s ability to remain consistent with treatment.

At the same time, complex treatment regimens, polypharmacy and the long-term burden of managing a chronic condition can make adherence more challenging. Financial constraints, limited access to medicines, and gaps in regular follow-up and patient–provider communication further add to the difficulties of sustained diabetes management.

Together, these factors contribute to poorer glycemic control, higher complication rates, increased hospitalizations and reduced quality of life.

Innovations Are Transforming Diabetes Care

Recognizing the realities of living with diabetes, care has increasingly shifted towards approaches that balance clinical effectiveness with practicality in everyday life, with greater emphasis on long-term sustainability and individual patient needs. Supporting this shift is a new generation of innovations in diabetes care that is making it more personalized, flexible and easier to manage, including:

Continuous Glucose Monitoring (CGM) has helped shift focus from HbA1c alone to include dynamic measures such as Time in Range (TIR) and glucose variability, enabling more real-time, personalized adjustments.

Oral therapies such as DPP-4 inhibitors (gliptins) and SGLT2 inhibitors (gliflozins) have expanded treatment options by helping improve glucose control while supporting more personalized and holistic diabetes management.

Newer ultra-long-acting basal insulins and ultra-rapid-acting mealtime insulins have improved glycemic stability.

Once-Weekly Insulin: A New Option For Patients

More recently, innovative solutions like once-weekly insulin icodec have been available globally that offer a simplified regimen, reduced treatment burden and improved patient adherence. This weekly insulin is now approved and launched in India for adults living with diabetes. This novel therapy could potentially reduce the practical burden of treatment and make long-term management more achievable in real-world settings.

Ultimately, the future of diabetes care will not be defined by how strictly patients follow treatment schedules, but by how well treatment fits into their lives. When care is designed around patients rather than systems, adherence becomes more natural, outcomes improve more sustainably, and diabetes management becomes less about daily struggle and more about improving the quality of life for those with diabetes.