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.”

A fall at home might look small, but for women older than 65, a broken hip can be a big and serious health problem. In real medical terms, this condition has a 20 to 30 percent chance of being deadly within the first year.

As people get older, their bones get weaker because of osteoporosis, which makes them more likely to break even from small falls. However, the bigger problem starts once the injury happens.

According to World Health organization (WHO), around 60 per cent of people living with osteoarthritis are women, yet awareness remains limited until symptoms begin to interfere with mobility and daily function.

Loss Of Muscles

Reports show that 70 per cent of women will get arthritis and osteoporosis. Most of them had no idea it was coming. HealthandMe spoke to experts to understand the reasons behind the trend.

Dr Gurdeep Avinash Ratra, Consultant - Orthopedics and Joint Replacement, Manipal Hospitals, Gurugram said that the development of these disorders is gradual and closely tied to physiological changes.

“After the age of 30, there is a steady decline in muscle mass, accompanied by a more rapid reduction in strength and power. With menopause, the significant fall in estrogen levels removes natural protection for bone density and joint health. Over time, this leads to increased bone fragility, reduced muscular support, and stress on joints, thereby elevating the risk of fractures and chronic joint conditions,” Ratra told HealthandMe.

Health Coach Prashant Desai in a post on social media platform X, noted that after the age of 30:

• muscle mass starts declining by 1 per cent every year.
• muscle strength declines three times faster.
• muscle power declines eight times faster.

Treatment

Experts said a hip fracture needs to be treated right away as a serious medical problem that requires care from many different medical specialists, not just a doctor who focuses on bones.

Dr Rajesh Kumar Verma, Director – Orthopedics & Joint Replacement, Max Super Speciality Hospital, Vaishali explained that limited movement can cause blood clots, chest infections, pressure sores, and loss of muscle quickly. Many patients also face a quick drop in their ability to take care of themselves, which can impact both their body and mind.

Also read: Suffering From Mid-back Pain? Doctors Say It May Be Spinal TB

“Delayed treatment further increases risk. Early surgery and prompt recovery treatment help increase the chances of surviving and recovering better,” Verma told HealthandMe.

How to Prevent

• Maintaining a healthy waist circumference as an early indicator of metabolic health.
• Engaging in regular strength training to preserve bone density and muscle mass.
• Ensuring adequate protein intake to support muscle maintenance.
• Incorporating sufficient calcium and Vitamin D into the diet.
• Remaining physically active, with exercise beyond low impact activities alone.
• Get medical help right away if you fall or think you might have a broken bone.
• Have surgery as soon as your doctor suggests it, because it can help you recover better.
• Begin physiotherapy as soon as possible after the surgery to help restore movement and avoid any serious issues.
• Make sure to eat well, paying special attention to getting enough protein, calcium, and vitamin D.
• Check for fall risks at home by looking at things like lighting, floor surfaces, and handrails.

What to avoid

• Do not wait to go to the hospital, even if the hip fracture pain feels okay.
• Avoid staying in bed for long because a hip fracture can lead to infections, pressure sores, and blood clots.
• Do not skip osteoporosis treatment for hip fractures because it is very important to stop broken bones from happening again.
• Avoid skipping follow-ups or rehabilitation sessions for hip fractures after the surgery.

World Health Day serves as a reminder that regular preventive health check-ups stand as mandatory health assessments that all women need to undergo for their long-term health.

Many serious conditions, such as breast cancer, cervical cancer, thyroid disorders, diabetes, and cardiovascular diseases, often remain silent in their early stages, making regular screening the most effective way to detect them early, when treatment is simpler, less invasive, and more successful.

How Preventive Healthcare Can Help Women

Preventive healthcare enables women to take a proactive role in managing their health rather than responding to illness at an advanced stage. Early detection not only improves clinical outcomes but also effectively decreases treatment difficulties, emotional distress and financial costs while providing superior long-term life quality.

This also helps in identifying risk factors early, allowing timely lifestyle modifications that can prevent disease onset altogether.

Despite this, women often deprioritize their own health due to the multiple roles they juggle, balancing careers, caregiving responsibilities, and family needs. There is also a continued hesitation around discussing reproductive and intimate health concerns, along with a lack of awareness, fear of diagnosis, and social stigma, all of which contribute to delays in seeking timely care.

In many cases, women assume that the absence of symptoms indicates good health, which is a common but risky misconception.

Importance Of Routine Screening

Routine screenings such as Pap smears for cervical health, regular breast examinations, mammography where indicated, thyroid function tests, and basic metabolic screenings like blood sugar and cholesterol levels are critical tools in preventive care.

Periodic health check-ups also provide an opportunity for counselling on nutrition, mental well-being, hormonal health, and lifestyle management, areas that are often overlooked but equally important.

World Health Day serves as a reminder to shift from a reactive to a preventive approach. Prioritizing regular health check-ups, normalizing conversations around women’s health, and encouraging a culture of self-care can significantly improve outcomes. Investing in preventive healthcare is one of the most powerful steps women can take towards leading healthier, longer, and more empowered lives.

Aging is a significant factor in memory loss and cognitive decline. Now, a team of US researchers has pinpointed a single protein that drives these changes in the brains of the elderly.

In aging mice, higher levels of protein FTL1 weakened connections between brain cells, leading to memory decline.

But when FTL1 was reduced, the brain began to recover. It also rebuilt lost connections and restored memory performance, according to the study, published in Nature Aging.

Also Read: Eye Drops: US FDA Recalls Over 3 Million Products Over Safety Concerns

"It is truly a reversal of impairments," said Saul Villeda, Associate Director at the University of California - San Francisco's Bakar Aging Research Institute and senior author of the paper. "It's much more than merely delaying or preventing symptoms."

While the research was carried out in aging mice, it holds immense potential for human brain function.

FTL1: A Key Driver Of Brain Aging

In the study, the researchers tracked shifts in genes and proteins in the hippocampus of mice. The FTL1 protein appeared consistently different between young and old animals.

Compared to young mice, the older mice showed higher levels of FTL1. They also had fewer connections between neurons in the hippocampus and performed worse on cognitive tests.

Increasing FTL1 levels in young mice produced brain changes similar to those seen in older mice. The researchers found that this change occurs because of alterations in the way nerve cells produce FTL1 protein.

In older mice, the nerve cells that produced high amounts of FTL1 developed simplified structures, forming short, single extensions instead of the complex, branching networks seen in healthy cells.

Further experiments showed that in older mice, higher levels of the protein slowed cellular metabolism in the hippocampus -- the part of the brain responsible for learning and memory.

However, when researchers treated these cells with a compound that boosts metabolism, the negative effects were prevented.

Also read: This Unique Diet Slows Brain Aging By Over 2 Years, Study Says

A Promise For Future Brain Aging Therapies

Villeda believes these findings could pave the way for treatments that target FTL1 and counter its effects in the brain.

"We're seeing more opportunities to alleviate the worst consequences of old age," he said. "It's a hopeful time to be working on the biology of aging."

Also read: Exercising Could Make Your Brain Younger, Says Doctor

Here's How To Boost Your Brain

• Simple movements like squats, push-ups or resistance band exercises
• Indulging in mentally challenging activities such as puzzles, reading, strategy games
• Learn new skills like any language, or musical instruments
• Better sleep — about 7-9 hours
• Healthy diet — rich in leafy greens, vegetables, berries, nuts, olive oil, whole grains, fish, beans, poultry
• meditation, deep breathing, or yoga
• Avoid smoking, and drinking alcohol.