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.”

Anxiety and depression are major concerns in adulthood, but could nutrition during the earliest stages of life influence health decades later? Two new studies suggest that lower sugar exposure during the first 1,000 days of life may be associated with lower risks of anxiety, depression and even several cancers later in life.

The findings, from studies published in Translational Psychiatry and PNAS point to the potential long-term effects of early-life nutrition. However, the findings do not mean that restricting sugar in infancy directly prevents these diseases.

Sugar Rationing And Mental Health

A 2026 study led by researchers from the University of Surrey, UK, analyzed 46,448 people born between October 1951 and March 1956.

Participants were grouped according to how long they were exposed to sugar rationing: from in utero only to 24 months. People conceived after food rationing had ended served as the main comparison group.

Researchers also analyzed brain MRI data from 5,990 participants.

Lower Risk Of Anxiety And Depression

Compared with people conceived after rationing ended, those exposed to sugar rationing for the three longest periods had significantly lower hazards of both anxiety and depression.

• Shorter-exposure groups did not show significant differences.
• The associations were stronger in women.
• Adult sugar intake was broadly similar across groups, at about 58–59 g/day of free sugar and 122–124 g/day of total sugar.

When later-life sugar intake was considered, the association with anxiety persisted among those exposed throughout pregnancy and the first two years of life, while the association with depression weakened and was no longer statistically significant.

Further, MRI analysis found differences across rationing groups in 80 of 139 gray matter regions. Analysis identified 11 regions that differed from participants conceived immediately after rationing ended, including the brainstem, occipital fusiform gyrus and several cerebellar regions.

Sugar And Cancer Risk

A separate study published in PNAS examined whether sugar exposure during the first 1,000 days could influence cancer risk later in life.

Researchers from China Agricultural University and the University of Cambridge used the abrupt end of UK sugar rationing in September 1953 as a natural experiment. The analysis included 64,761 UK Biobank participants born between 1951 and 1956.

Compared with those whose first 1,000 days were not affected by rationing, participants exposed to rationing showed lower incidence of several cancers:

• Liver/intrahepatic bile duct cancer: 69% lower
• Prostate cancer: 52% lower
• Lung cancer: 41% lower
• Rectal cancer: 40% lower
• Breast cancer: 36% lower

The researchers identified two possible pathways behind the association.

How Could Early Sugar Exposure Matter?

• Long-term dietary habits: People exposed to rationing consumed less sugar, ate smaller quantities and had healthier, more diverse diets even five decades later, suggesting that early-life exposure may influence lasting food preferences.

• Biological ageing: The rationed groups had longer leukocyte telomeres, equivalent to about 2.2 fewer years of biological ageing, along with lower levels of Granzyme B, a marker linked to chronic immune activation.

Sugar's Link With Mental Health And Cancer

Sugar is an important source of energy for the brain, and very low blood glucose can impair brain function. However, excess sugar intake has also been associated with metabolic problems that can affect long-term health.

When it comes to cancer, sugar does not directly cause cancer, and cutting out all sugar does not “starve” cancer cells. Both healthy and cancer cells use glucose for energy.

However, consistently consuming excessive amounts of added sugar can contribute to weight gain and obesity, which are established risk factors for several cancers.

Men who consume higher amounts of dietary nitrite may have a greater risk of colorectal cancer, particularly the type affecting the distal colon, according to a new study published in the Journal of the National Cancer Institute.

The study followed 82,009 middle-aged and older adults in Sweden for more than two decades and identified 3,170 cases of colorectal cancer.

Researchers found that men in the highest category of nitrite intake had a 23% higher risk of colorectal cancer overall compared with those in the lowest category. The strongest association was for for distal colon cancer, where the risk was 50% higher.

The findings were not seen in women, and dietary nitrate was not associated with colorectal cancer in either men or women.

More About The Study

Researchers from Karolinska Institutet in Sweden used dietary information collected in 1997 and updated in 2009 and 2019. They linked this information with Sweden's cancer registry to identify colorectal cancer cases through 2022.

Rather than relying only on participants' diet at the beginning of the study, researchers used repeated measurements to capture changes in nitrite and nitrate intake over time. Among men, the highest versus lowest levels of nitrite consumption were associated with a hazard ratio of 1.23 for colorectal cancer. For distal colon cancer, the hazard ratio rose to 1.50.

Also read: How Genetic and Genomic Testing Can Help Women Make Smarter Cancer Decisions

Difference Between Nitrite And Nitrate

Nitrite and nitrate are related compounds, but they are found in different foods and behave differently in the body. Nitrate occurs naturally in vegetables, particularly leafy greens, as well as drinking water. Nitrite is also naturally present in some foods but is commonly used as a preservative in processed meat and other animal products.

The researchers found no association between dietary nitrate and colorectal cancer, making the distinction particularly important.

Also read: Moderna-Merck’s Personalized mRNA Vaccine: Ushering In A New Era In Cancer Care?

Why Nitrite Could Be A Concern For Cancer Risk?

A possible explanation involves N-nitroso compounds, which can form when nitrate and nitrite undergo chemical reactions in the body. Some N-nitroso compounds are known to be carcinogenic in animals.

The researchers saw that previous studies have also investigated possible links between nitrite exposure and cancers of the gastrointestinal tract. However, the exact biological mechanism behind the association observed in this study remains uncertain.

The researchers also found that the association was specific to men, and they said the reason for this difference is unclear.

Sex Difference Needs More Investigation

The authors noted that the higher risk associated with nitrite intake was confined to men and suggested several possible biological explanations, including differences in oxidative stress and other sex-specific factors.

But they stressed that these mechanisms have not been established as the reason for the finding. The study concludes that further research should examine nitrite and colorectal cancer separately in men and women and.

The study was observational, meaning researchers identified an association between dietary nitrite intake and cancer risk but could not prove a direct cause and effect relationship.

For people who work, laptops and computers are something we use every day. Sitting in front of a screen for hours can be bad for your neck and spine. When you sit and use your laptop the way you position yourself can hurt your neck over time.

This is true even when you are just scrolling on your phone. Keeping your head bent for a long time can put stress on the muscles and joints in your neck.

How Looking Down At Screens Strains Your Neck

The problem is not the laptop itself but how we use it. Many people spend hours looking down at a screen without realizing it. This can cause muscle fatigue, stiffness, headaches and neck pain that will not go away.

Your neck is meant to support your head and let you move it around. When you keep your head tilted forward for hours the muscles in your neck have to work hard to keep it that way. Over time this can cause discomfort. Make it harder to move your neck.

If you sit with posture it can also affect the normal curve of your neck. Poor posture may not cause spinal problems on its own but it can cause wear and discomfort. This is especially true for people who already have neck or spine problems.

Also read: The Hidden Health Risk of Sitting for Long Hours: What Young Professionals Need to Know

Small Workspace Changes Can Reduce Neck Strain

One simple way to reduce strain on your neck is to make your workspace more comfortable. Your laptop or monitor should be at eye level so you do not have to look down all the time. Your back should be. Your arms should be comfortable too. Keep your feet flat on the floor. Do not sit still for too long.

It is also important to move regularly. Of sitting for hours get up and move every 30-40 minutes. Stand up walk around and move your neck and shoulders gently. This can help prevent stiffness and reduce strain on your neck. Your neck is meant to move not be stuck in one position for hours.

When Neck Pain Should Not Be Ignored?

If your neck is stiff after a day, it may feel better with rest and better posture. If the pain gets worse or does not go away, you should see a doctor. If you have pain in your arm or if your arm feels numb tingling or weak you should see a doctor too.

To protect your neck, you do not have to make changes. Just make small adjustments to how you sit and use your laptop and move around more during the day. This can make using your laptop more comfortable. Reduce strain, on your neck and spine.

By Dr. Zahir Abbas Merchant, Consultant Spine Surgeon, Saifee Hospital, Mumbai