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.”

Beth Dobbin, who represented Great Britain at the Tokyo Olympics in 2021, now spends more than 22 hours a day in bed.

The 32-year-old retired from athletics in April 2026, describing her illness as “serious” and “life-changing.” She was later diagnosed with myalgic encephalomyelitis (ME), a chronic condition with no known cure or specific treatment.

Dobbin reached the 200m semi-finals at the Tokyo Olympics and won bronze in the 4x200m relay with Scotland at the 2022 Commonwealth Games in Birmingham.

“It's life-decimating like I can't even put into words,” she said. “I feel like I've lost everything.”

Beth Dobbin's Diagnosis with ME

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Dobbin’s health began deteriorating after back-to-back COVID-19 and glandular fever infections in the winter of 2021-22, the BBC

reported.

She experienced worsening fatigue, slower running times and soreness in the glands in her neck and armpits. Initial tests by British Athletics doctors failed to identify the cause.

Despite her symptoms, she continued training in 2022. At the European Championships, she false-started after losing all feeling in her legs while in the starting blocks.

Her condition subsequently worsened. She struggled to stand and spent most of her time in bed. After consulting four or five specialists, she was diagnosed with ME.

Dobbin has been confined to her house and bed since then. She gets out of bed only to eat and use the bathroom. Even conversations, bright lights or loud sounds can trigger a “crash” lasting days or, in severe cases, months. She has left the house just five times this year, the report said.

She now leaves home mainly for medical appointments and blood tests. Even conversations, bright lights and loud sounds can trigger a “crash” that lasts days or, in severe cases, months. She has left home just five times this year, according to the report.

What Is ME?

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ME, also known as chronic fatigue syndrome (CFS), is a complex, chronic illness that can cause severe fatigue, pain, sleep disturbances and problems with thinking and memory. Symptoms do not improve simply with rest, and there is no established cure.

Dobbin rejects the term “chronic fatigue syndrome” because she believes it understates the severity of the condition.

“I wish it was just fatigue, that would be a walk in the park,” she said. “It's so much more than that. If I thought of fatigue in my top 20 symptoms it might just make the cut.”

She described the illness as feeling as though her entire body “is shutting down; it feels like you are a few days from death”.

More than 400,000 people in the UK are thought to have ME, although some estimates put the number above one million. The illness varies in severity, with some people continuing to work or study while others require extensive care.

Dobbin’s illness has also taken an emotional toll on her family.

“I'm just so desperate to help her but I can't because there is nothing. I'd take her anywhere, I'd take her to America if I had to, but there's nothing,” her father, Jim, said.

Beth Dobbin Aims To Raise ME Awareness

Dobbin describes her future as “very bleak” but hopes that greater awareness will lead to better treatment options.

The emergence of long COVID, which shares some symptoms with ME, has brought renewed attention to the illness and increased research funding.

She also wants to highlight the experiences of patients who are dismissed or disbelieved.

“A lot of people that have this illness that I've spoken to have said to me 'I don't get believed, people think I'm lazy'. I've never experienced one person that doesn't believe me and that's because, why would an athlete just suddenly stop after 20 years?”

Infections accounted for an estimated 2.3 million new cancer cases worldwide in 2024, or about 12% of all cancers diagnosed that year, according to a September 2026 study published in The Lancet Oncology. Among these, Helicobacter pylori (H. pylori), a bacterium that infects the stomach, was associated with an estimated 760,000 cancer cases.

A 2025 study by the International Agency for Research on Cancer (IARC), part of the World Health Organization (WHO), estimated that 76% of the 15.6 million stomach cancer cases expected over the lifetimes of people born between 2008 and 2017 could be attributable to H. pylori infection if prevention efforts do not improve.

Although infections can contribute to cancer development, they are not the only cause. Genetics, age and non-infectious factors also play a role, Dr. Vivek Kaul, Professor of Medicine in the Gastroenterology & Hepatology Division at the University of Rochester Medical Center, told HealthandMe in an exclusive interview.

“I think, generally speaking, I think H. pylori is a well-known carcinogen, mostly responsible for the development of gastric cancer,” Kaul said.

Is Cancer Increasingly Linked To Infections?

The findings highlight the contribution of infectious agents to the global cancer burden. However, Kaul cautioned against concluding that cancer is increasingly being driven by infections.

“But I don't think it's fair to say that, you know, we are moving towards a more infectious etiology for cancer,” he said.

“Cancer is a multifactorial disease state that develops, most commonly develops from genetic and from non-infectious causes,” Kaul added.

He explained that cancer development also depends on the ability of cells to defend themselves against external threats and genetic mutations.

“In many cases, cancer development comes primarily from genetic and age-related issues and boils down to the individual cell's ability, you know, to fight external attacks, such as from H. pylori type of agents or from genetic mutations,” he said.

Kaul also noted that other infectious agents have been implicated in cancer development.

How Does H. pylori Raise Stomach Cancer Risk?

H. pylori is a bacterium that infects the stomach lining and can persist for years. The infection can cause chronic inflammation and damage to stomach tissue, increasing the risk of gastric cancer.

According to scientists at the International Agency for Research on Cancer (IARC), part of the World Health Organization (WHO), H. pylori infection is responsible for an estimated 76% of stomach cancer cases worldwide. The infection often causes no noticeable symptoms, although some people may experience digestive complaints.

The bacterium can spread through contaminated food or water and close contact with infected individuals. In some cases, the infection can cause stomach ulcers. Because many infected people have no symptoms, testing may be needed to identify it.

Can H. pylori Infection Be Prevented From Progressing To Cancer?

The World Gastroenterology Organisation's global guidelines state that eradicating H. pylori before precancerous changes develop can help prevent gastric cancer. This evidence supports test-and-treat screening programmes for young adults in countries with a high disease burden and sufficient resources.

Testing can involve blood, breath or stool tests, depending on the clinical context. People diagnosed with the infection can receive treatment to eradicate the bacterium. Follow-up testing can then confirm whether treatment has worked.

Nobel laureate and gastroenterologist Dr Barry Marshall has also highlighted the potential for early treatment to reduce cancer risk.

“H. pylori is much more than an ulcer organism. If the infection persists for many years, it can cause chronic inflammation in the stomach and increase the risk of gastric cancer. That gives us an opportunity because this is a potentially preventable cause of cancer,” Marshall told PTI.

He stressed the need for wider testing, appropriate treatment and follow-up to ensure the infection has been cleared.

Other Digestive Cancers Are Also A Growing Concern

Beyond infection-associated cancers, Kaul highlighted the rising incidence of several digestive cancers.

“We know that esophageal squamous cancer is another example where we will be close to a million cases by 2035,” he said, pointing to the burden in East Asia, sub-Saharan Africa and South America, including India.

Kaul also identified liver cancer as a growing concern and noted the rise in colorectal cancer among younger people in Western countries. The increase in colorectal cancer among younger adults in the US contributed to recommendations to begin average-risk screening at age 45 rather than 50.

These trends underline the need to address infectious causes of cancer alongside other risk factors, while improving access to prevention, early detection and appropriate care.

With the increasing use of smartphones, laptops and other digital devices, neck pain and back discomfort are becoming common concerns among people of different age groups. Long working hours, improper sitting positions and excessive screen time are putting additional pressure on the spine. What may begin as mild stiffness in the neck or shoulders can gradually develop into persistent discomfort if ignored.

Poor posture and prolonged screen use are among the common lifestyle factors contributing to neck and back pain.

Many people complain of neck stiffness or back pain despite not being involved in physically demanding activities. On examining their daily routine, we often find that they spend several hours working on computers or looking at their mobile phones without taking adequate breaks. Maintaining the same posture for extended periods can put unnecessary stress on the spine.

The spine is a complex structure made up of vertebrae, intervertebral discs, joints, ligaments and muscles. It supports the body, helps maintain balance and allows movement. However, prolonged sitting and incorrect posture can affect the normal functioning of these structures.

One of the growing concerns associated with digital device usage is ‘text neck’, a term commonly used to describe neck pain and discomfort linked to repeatedly looking down at smartphones and tablets. When the head moves forward from its natural position, the muscles of the neck and shoulders have to work harder to support it. Over time, this may lead to stiffness, muscle fatigue and recurring pain.

Children and teenagers are also vulnerable to posture-related problems because of extended screen time, online learning and gaming. Encouraging them to take regular breaks and participate in outdoor activities can help promote better musculoskeletal health.

The effects of an inactive lifestyle extend beyond the spine. Reduced physical activity can contribute to weight gain, poor muscle strength and an increased risk of metabolic and cardiovascular health problems. Regular movement is therefore important not only for spinal health but also for overall well-being.

Simple Lifestyle Changes Can Make a Difference

Preventing posture-related pain does not necessarily require complicated exercise routines. Small changes in everyday habits can help reduce strain on the neck and back.

Taking short breaks during working hours instead of remaining seated continuously. Standing up, walking around or performing gentle stretches every 30 minutes can help reduce prolonged static loading on the spine.

Workstation ergonomics also plays an important role. People should keep their feet comfortably supported on the floor, maintain a relaxed shoulder position and avoid bending their neck forward for extended periods. The computer screen should be positioned at a comfortable viewing height, while laptop users can consider an external keyboard and mouse to improve their working posture.

Regular physical activity can further support spinal health. Exercises such as bridges, planks and bird dogs can help strengthen the muscles that support the spine when performed correctly. Walking, swimming and cycling are also useful ways to remain active. The World Health Organization recommends that adults undertake at least 150 minutes of moderate-intensity physical activity each week.

People with obesity, diabetes or a family history of spinal disorders should pay particular attention to their daily activity levels and seek medical advice when necessary. Parents should also encourage children to balance screen time with physical activity and healthy movement habits.

When Should You Consult a Specialist?

Occasional discomfort that improves with movement or a change in posture may not necessarily indicate a serious problem. However, persistent or worsening pain should not be ignored.

Consulting a doctor if neck or back pain continues for several weeks, radiates into the arms or legs, or is accompanied by tingling, numbness or muscle weakness. Pain associated with fever or unexplained weight loss also requires prompt medical evaluation.

Do not rely on painkillers for prolonged periods without professional guidance. Pain relief alone may not address the underlying cause, making an appropriate assessment important when symptoms persist.

Most cases of neck and back pain do not require surgery. Many can improve with appropriate treatment, physical activity and changes in daily habits. The important thing is to identify the cause of the pain and avoid ignoring recurring symptoms

As digital devices become an essential part of modern life, protecting spinal health requires greater awareness of posture, regular movement and healthy screen habits. Simple preventive measures adopted today can help people maintain better mobility and comfort in the long run.

(By Dr. Lalit Kumar, Director Consultant, Orthopaedics, Joint Replacement and Spine Surgeon at Shalby International Hospitals, Gurugram)