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.”

India is facing a growing burden of non-communicable diseases (NCDs), with hypertension and diabetes among the major health concerns.

Experts warned that the risk of both conditions rises after 40, often without noticeable symptoms. Increasing age, weight gain, reduced physical activity, stress, dietary habits, and metabolic changes can all contribute to the risk.

Having hypertension and diabetes together is particularly concerning, as their coexistence can increase the risk of heart disease, stroke, kidney damage, retinopathy, and other complications.

Why Risk Rises After 40?

Dr. Santosh Gupta, Associate Director - CTVS, Paras Health Udaipur, told HealthandMe that several factors contribute to the rising risk after 40.

“After the age of 40, the risk of hypertension and diabetes increases due to factors such as changes in metabolism, reduced physical activity, weight gain, stress and dietary habits. What makes both conditions particularly concerning is that they can develop silently, without noticeable symptoms, while gradually affecting vital organs,” he said.

He added that uncontrolled hypertension can damage the heart, brain, kidneys, and blood vessels, while diabetes can affect the kidneys, eyes, nerves, and cardiovascular system.

"When both conditions occur together, the risk of heart disease, stroke and kidney complications becomes even higher,” Dr. Gupta added.

Because both conditions can remain silent for years, people may have high blood pressure or blood sugar without knowing it.

Also read: Breastfeeding Can Help Reduce Mothers' Risk of Type 2 Diabetes, Breast Cancer and More

Hypertension And Diabetes Often Coexist

A recent hospital-based analysis found that hypertension and diabetes frequently occur together, with their coexistence rising sharply from around age 40 among Indians.

The study, conducted by the Department of Clinical Research and Preventive Health Program at Max Healthcare, analyzed health records of more than 56,000 adults who underwent preventive health check-ups between January 2021 and December 2024.

Nearly 5% of adults had both conditions. Their coexistence increased rapidly from around 40, continued rising until approximately 58 and gradually reached nearly 17% by around age 70.

People with diabetes were nearly four times more likely to have hypertension, while those with hypertension were about 2.5 times more likely to have diabetes.

Dr. Abhaya Indrayan, Biostatistics Consultant, Max Healthcare, said the findings support screening for both conditions rather than assessing them separately.

Why Screening After 40 Matters

Read More: Confused By Your Cholesterol Report? Here's What LDL And ApoB Really Mean

Experts said that preventive healthcare should go beyond checking for individual diseases. Adults over 40 should routinely assess key cardiometabolic risk factors, including blood pressure and blood sugar.

Screening can help detect hypertension, diabetes or prediabetes early, when lifestyle changes and treatment can help prevent or delay complications.

“This is why regular screening after 40 is important, even for individuals who feel completely healthy. A routine blood pressure check, fasting blood glucose or HbA1c test can help identify hypertension, diabetes or prediabetes at an early stage, when timely lifestyle changes and medical intervention can prevent or delay complications,” Dr. Gupta said.

“Screening should not be viewed only as a diagnostic exercise; it is an opportunity to understand one’s health risks and take corrective measures before the disease begins to cause irreversible organ damage,” he added.

How To Lower The Risk

Preventive care also involves addressing modifiable risk factors. Regular physical activity, maintaining a healthy weight, limiting salt, sugar and highly processed foods, getting adequate sleep and avoiding tobacco can help lower the long-term risk.

For those already diagnosed with hypertension or diabetes, regular monitoring and adherence to prescribed treatment are important to reduce the risk of complications.

With the risk of both conditions rising after 40, experts recommend making routine health checks part of regular healthcare—even when there are no obvious symptoms.

Amid the ongoing monsoon season, Delhi-NCR is seeing a rise in H1N1 influenza cases, with Delhi reporting 1,344 cases so far this season.

The figure is nearly six times higher than the 229 H1N1 cases recorded during the same period last year, The Times of India reported.

According to health officials, Delhi recorded around 4,000 influenza cases last year, most of them caused by H3N2. This year, H1N1 is the dominant strain. Both H1N1 and H3N2 are subtypes of Influenza A and spread mainly through respiratory droplets.

What Is H1N1 and Why Is Testing Important?

H1N1 is a subtype of Influenza A and can cause sudden fever, cough, sore throat, headache, body aches and fatigue. These symptoms can overlap with those of other seasonal influenza strains, COVID-19 and respiratory syncytial virus (RSV), making it difficult to identify the infection based on symptoms alone.

Dr Aijaz Ilmi, Senior Consultant – Metabolic Diseases, Pacific OneHealth Hospital, told HealthandMe that testing is particularly important when fever or respiratory symptoms persist or worsen, especially among older adults, young children, pregnant women and people with diabetes, obesity, heart or lung disease, or compromised immunity.

“With the current rise in H1N1 cases in Delhi, we are also seeing other seasonal respiratory infections, including Influenza A and B, COVID-19, RSV and other respiratory viruses. At the same time, the monsoon season brings an increased risk of mosquito-borne illnesses such as dengue.

“The key message is, don’t panic, but don’t dismiss a persistent fever as ‘just a viral’. Early recognition is particularly important in vulnerable individuals.”

H1N1 vs Other Respiratory Infections: How Are They Different?

H1N1 can be difficult to distinguish from other respiratory infections because many of them cause similar symptoms.

• H1N1 and other seasonal influenza strains: Both can cause sudden fever, cough, sore throat, headache, body aches and fatigue. Symptoms alone generally cannot determine whether the infection is H1N1 or another influenza strain.

• COVID-19: COVID-19 can cause fever, cough, sore throat, congestion and fatigue. Some people may also experience changes in or loss of taste or smell, while gastrointestinal symptoms can occur.
• RSV: RSV commonly causes a runny nose, cough and wheezing. It can be more severe in infants, older adults and people with certain underlying conditions. In young children, it can cause bronchiolitis and breathing difficulties.
• Dengue: During the monsoon, dengue can also cause fever, headache, body aches and fatigue, which may initially resemble a viral respiratory infection. However, dengue is spread by mosquitoes rather than respiratory droplets and does not typically cause cough or sore throat.

How Can H1N1 and Other Infections Be Prevented?

Dr Sharwari Sudhir Dabhade, Consultant - Internal Medicine, Diabetology & Endocrinology, Madhukar Rainbow Children's Hospital, told HealthandMe that prevention should focus on reducing exposure and maintaining good hygiene. Other measures to reduce transmission include:

• Washing hands frequently.
• Covering mouth and nose while coughing or sneezing.
• Maintaining good indoor ventilation.
• Avoiding crowded or poorly ventilated places when respiratory infections are circulating.
• If you have respiratory symptoms, limit close contact with others and wear a mask.
• Getting vaccinated against influenza, particularly if you are an older adult, young child or have an underlying health condition.
• Prevent mosquito breeding and take precautions to avoid mosquito bites to reduce risk of dengue.

When Should You Seek Medical Help?

Most viral respiratory infections recover with supportive care. However, should seek prompt immediate medical assessment in cases of

• breathlessness
• persistent high fever,
• chest pain,
• confusion,
• dehydration,
• falling oxygen saturation
• significant worsening of weakness.

People with inflammatory bowel disease (IBD) may face a higher risk of depression, anxiety and other psychiatric disorders years before they are diagnosed with the gut condition, a new study has discovered.

The study, published in Clinical Gastroenterology and Hepatology, found that the risk of psychiatric disorders began rising two to three years before an IBD diagnosis, peaked shortly after diagnosis and remained elevated for as long as a decade.

Researchers from Karolinska Institutet and other Swedish institutions analysed data from 43,862 people with IBD, comparing them with nearly 179,000 individuals from the general population and more than 26,000 IBD-free full siblings.

The sibling comparison was key as it helped researchers examine whether shared genetic or early-life environmental factors could explain any association.

Risk Of Mental Health Issues Increase Before IBD Diagnosis

Also read: Monsoon Gut Health: Addressing The Rise In Rotavirus And Viral Gastroenteritis Cases

The study found that the risk of developing any mental health disorder was already 15% higher two years before IBD diagnosis. It increased further around the time of diagnosis, reaching a roughly 50% higher risk within the first six months.

Although the risk reduced afterwards, it remained about 19% higher even 10 years after diagnosis. Major depressive disorder, anxiety disorders and substance misuse accounted for much of the increase.

Antidepressant and anti-anxiety medication use also began rising around a year before the IBD diagnosis.

Researchers called for mental health screening to begin early, including during the initial gastroenterology evaluation.

“It is time to actively manage psychiatric conditions in patients with IBD,” said Jiangwei Sun, PhD, the study’s lead author.

Why Depression And Anxiety Appear Before IBD Is Diagnosed?

Also read: Following A Western Diet? Changes In Your Gut Bacteria Could Increase Colon Cancer Risk

IBD includes Crohn’s disease and ulcerative colitis, autoimmune conditions that cause inflammation in the digestive tract.

One possible explanation is the gut-brain axis, the two-way communication system connecting the digestive system and brain.

Inflammation, changes in gut bacteria and abnormal immune activity may affect brain function and overall mood. At the same time, stress and psychological distress can affect the gastrointestinal symptoms.

But researchers caution that the study merely shows an association, not proof that IBD directly causes depression or anxiety.

Some people may experience subtle or unexplained gastrointestinal symptoms before receiving an official diagnosis, while the uncertainty and disruption caused by chronic symptoms could also affect mental health.

Mounting Evidence

The findings follow previous research that shows psychiatric symptoms can surface before the patient is diagnosed with IBD.

A 2023 study examining longitudinal health records found that anxiety and depression occurred more frequently among people who were later diagnosed with IBD.

In a 2024 systematic review and meta-analysis, it was observed that patients with a history of depression may have a small-to-moderate increased risk of subsequently developing IBD, suggesting that the relationship between the gut and mental health could work in both directions.

The new findings therefore signal that mental health symptoms may sometimes arrive years before IBD itself is formally diagnosed in patients.

For doctors, researchers say this highlights the need to treat IBD as more than a digestive disease, with psychological support and screening considered part of long-term care.