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.”

The recently released National Family Health Survey-6 (NFHS-6) indicates a growing burden of lifestyle-related diseases such as obesity, hypertension, and high blood sugar levels in the country.

According to the NFHS-6, conducted during 2023–24, there has been a significant rise in non-communicable diseases (NCDs) and lifestyle risks in India, marking a shift from infectious diseases to chronic conditions.

Speaking to HealthandMe, Dr. Parmeet Kaur, former Chief Dietitian, Department of Dietetics, AIIMS, New Delhi, said rapid urbanisation, changing food habits and declining physical activity levels are contributing to the growing burden of NCDs.

She noted that factors such as the globalization of food habits, unhealthy snacking, increased consumption of processed foods, excess salt and sugar intake, stress, poor sleep and an ageing population are all playing a role in the rise of these conditions.

"The rise in non-communicable diseases is driven not just by excess calories, but by changing food systems and lifestyles," Dr. Kaur said.

She stressed the importance of promoting traditional balanced diets, healthy snacks, regular physical activity, maintaining a healthy body weight, adequate sleep and greater reliance on home-cooked meals.

NCD Burden Rising In Younger Age Groups

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Dr. Rakesh Gupta, Senior Consultant, Internal Medicine, Indraprastha Apollo Hospital, Delhi, said the latest NFHS-6 findings point to a growing burden of metabolic risk factors across the country, including among younger age groups.

"In many cases, these conditions develop silently and remain undiagnosed for years," Dr. Gupta said.

He emphasized that tackling the problem requires shifting the focus beyond weight management alone to overall metabolic health.

How To Prevent

To prevent these conditions and identify risks at an early stage, Dr. Gupta told HealthandMe that the following measures are important:

• Regular physical activity

• Healthy eating habits

• Adequate sleep

• Stress management

• Routine health screenings

Dr. Kaur also called for strengthening nutrition education, increasing awareness about food labels and encouraging early screening for diabetes and hypertension.

"Re-emphasizing traditional and regional healthy eating patterns alongside active living will be crucial for India's future health," she added.

What Did NFHS-6 Say On NCDs?

The NFHS-6, conducted during 2023–24, covered more than 7.1 lakh women and over one lakh men across the country.

Obesity

• Obesity among women increased from 24 per cent (2019–21) to 30.7 per cent (2023–24). Urban women recorded a higher prevalence (42.8 per cent) than rural women (25.5 per cent).
• Obesity among men rose from 22.9per cent to 27.3per cent during the same period. Urban men (36.3per cent) were more affected than rural men (23 per cent).

• High blood sugar prevalence among men aged 15 years and above increased from 15.6 per cent to 20.9 per cent.
• Urban women (21.9per cent) reported higher prevalence than rural women (16.2per cent); with total prevalence among women increasing from 13.5 per cent to 17.8 per cent.

High Blood Pressure

• Among women, high blood pressure prevalence stood at 23.5 per cent in urban areas and 17.8 per cent in rural areas.
• Among men, the prevalence was 26.2 per cent in urban areas and 20.4 per cent in rural areas.

"The emerging challenges such as rising non-communicable diseases, lifestyle-related risks and the dual burden of undernutrition and rising overweight/obesity among adults highlight the need for continued focus on preventive healthcare, behavioral change and balanced nutrition strategies," the Health Ministry said.

Oral cancer cases are on the rise because of tobacco chewing, smoking, alcohol consumption, poor oral hygiene, and delayed medical attention. Many people ignore small red or white patches, which are early warning signs of cancer and should never be overlooked. There is an average delay of six months in cancer diagnosis, which is the reason patients are diagnosed with stage 3 and 4 cancers.

Dr Prathamesh Pai, Senior Consultant Head and Neck Surgical Oncologist, Gleneagles Hospital, Parel, Mumbai, explained the difference between red and white patches in the mouth and what they may indicate about your health.

Red vs White Patches in the Mouth

White patches inside the mouth are called leukoplakia, while red patches are known as erythroplakia. Both can occur on the tongue, gums, inner cheeks, or floor of the mouth. Though both need equal attention, red patches are more dangerous, with a higher risk of being cancerous in comparison to white patches. Red patches in the mouth indicate severe abnormal cellular changes, which can develop into precancerous conditions or cancer. Around 60% to 80% of erythroplakias are diagnosed as early-stage cancer on biopsy.

What is erythroplakia?

Erythroplakia is a fiery red, well-defined patch in the mouth. These lesions are velvety in appearance. They often appear on the floor of the mouth or the retromolar trigone (the area behind the wisdom teeth). Red patches often go unreported, as they are mistaken for traumatic mouth ulcers caused by hard foods or dental irritation.

If a red patch does not heal within two to three weeks, it should raise concerns about cancer. Besides the duration, patches that bleed on touch, are painful while eating, are associated with a burning sensation, difficulty swallowing, loosening of teeth, or voice changes should be investigated. Tobacco users should be even more mindful. Ignoring persistent red or white patches can allow the disease to progress silently.

So, make sure to seek immediate help and consult a doctor. For anyone presenting with red or white patches, the doctor will carry out a physical oral examination and a biopsy, in which a small tissue sample is taken from the patch for evaluation. A CT scan and MRI may also be advised, depending on the location of the patch and other clinical features.

Why early detection of cancer matters

Remember, early detection of cancer is curable. Treatment is also less extensive, often involving minor intraoral surgery and preservation of speech and swallowing functions. As the cancer stage advances, surgery may require the removal of parts of the cheek, jaw, or tongue, as well as postoperative radiotherapy. This affects the face and neck and hampers important functions such as eating, speaking, and swallowing. This has major implications for quality of life. Treatment can also be a financial burden, especially for younger patients.

Take charge of your life. Lead a happy, healthy life. Avoid tobacco, alcohol, and other addictions. Visit your dentist regularly and maintain good oral hygiene. Prevention is better than cure. In the case of any non-healing ulcers in the mouth, swelling in the neck, altered speech or swallowing, or altered bowel habits for more than two weeks despite treatment, do visit a doctor. Remember, early detection of cancer is curable.

Supplements like calcium and vitamin D are very popular among the masses due to the perception that they can help prevent fractures. A major study has shattered this common belief, which in turn claims that these supplements have no role whatsoever in falls and bone fractures. The British Medical Journal (BMJ) has published this landmark research.

The trial of this study studied data from 2014 to February 2025, where their database consisted of three sources, namely Medline, Embase, and CENTRAL.

The independent researchers in pairs monitored the trial, extracted data, and assessed risk of bias using the second version of Cochrane’s risk of bias tool. The results of the study were synthesized and appraised.

This study consisted of 69 trials, which were participated in by 153,902 participants. Most of the participants, 73% to be exact, were at no high risk of falling and fracturing. The results were that Calcium, Vitamin D, or Combined Supplements have little to no effect on fractures. This primary finding was ensured due to the high certainty of evidence.

The extensive exploration made the study robust and was based on heterogeneity across multiple subgroup analyses. The evidence from high-risk patients was limited due to residential care, calcium monotherapy, and combined supplementation.

Read Also: Calcium, Vitamin D Do Not Guarantee Protection From Fractures And Falls, These 8 Things Do!

Better Ways To Protect Your Bone Health

USPSTF recommends a few better ways to protect your bone health and prevent broken bones and falls.

Walk Regularly

Regular walks strengthen your muscles and bones, which helps you stay steady on your feet. It is as simple as practice makes perfect, so the more you walk, the better it is. Walking also improves your balance, making you less likely to fall.

Do Strength Training

Strength training, like lifting weights or using resistance bands, makes your bones stronger and helps prevent fractures if you do fall. It is like a safety cushion, but you must be careful while doing so because it can lead to injuries if done too much.

Practice Balance

Activities like tai chi, Pilates, and yoga can improve your balance and coordination, making you more stable and less prone to falls. These can also help you improve your muscle flexibility and strength, which in turn helps your body be stronger.

Read Also: Tomato-Soy Juice May Reduce Chronic Inflammation, New Study Says

Check Your Medicines

If you have osteoporosis, talk to your doctor about medications that can help strengthen your bones and lower your risk of fractures. Many medications can also have unsavory side effects like weakened joints, loss of muscle strength, etc.

Eat Enough Protein

A proper diet goes a long way when it comes to your entire body's health. So to keep up with your body’s nutrition and muscle health, eat more protein along with a balanced meal that includes loads of fiber, healthy fats, and carbs.

Get Your Eyes Checked

Having poor eyesight can be difficult; not only does it make life difficult without glasses, but it also increases the possibility of getting into minor accidents like bumping into people and missing objects placed in front of us.

Get Enough Sleep

Getting enough sleep is also important because when you are not sleeping, you get disoriented and can ignore even obvious things like the last step in the staircase. Make sure you get enough sleep to keep you fresh and focused.

Make Your Home Safe

Many things can cause you to have accidents, even in your home. To avoid such falls, make sure there are no loose ends like crooked floor panels, rugs that are sticking out, or protruding furniture that can hurt your knees.