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.”

Every year on March 20, World Oral Health Day is observed to raise awareness about the importance of caring for your mouth at every stage of life. This means starting from birth through later years. However, a visit to dentist is usually the last thing anyone plans when they think of a doctor's visit. Dental visits happen only when extraction or something bigger is involved. More often than not people ignore a follow up or a regular dental checkup to maintain oral health. Why so?

In a previous interview with Health and Me Lt Gen Dr Vimal Arora, the Chief Clinical officer at Clove Dental, who has 40 years of experience as a dentist and also served in the Indian Army explained how oral health is not just about a pretty smile. He explained that many do not plan a regular visit to a dentist because the problems that pertains to oral health do not seem "life threatening".

Read: Exclusive: Astronaut Rakesh Sharma Had To Get His Wisdom Tooth Extracted Before His Trip To Space

However, Dr Arora told Health and Me that oral health can in fact be the first way to know if anyone is prone to a chronic disease.

Early Signs Of Disease Your Mouth Can Reveal

“There is now scientific evidence, published in top medical journals, that shows how oral infections can significantly worsen pre-existing systemic diseases,” says Dr. Arora. This isn’t just a theory — it’s a medically established fact.

Take diabetes, for instance. People with gum infections often find it harder to control their blood sugar levels. “If you're suffering from diabetes and you have a gum infection, your diabetes will not be well controlled. In fact, it may worsen,” he adds. The same applies to heart diseases. Oral infections can increase inflammation in the body, potentially triggering or worsening cardiovascular problems.

This is concerning especially for those people who may already be managing conditions like hypertensions, arthritis, or respiratory illness. Poor oral health can actually sabotage their efforts to stay stable.

“Your tongue is a true mirror of your oral and general health,” says Dr. Arora. The correlation therefore goes beyond just gums and teeth. Dentists are trained to detect early signs of systemic disorders simply by examining the tongue's color, coating and texture.

A pale tongue might indicate iron deficiency, while a coated tongue could be a sign of digestive issues or a viral illness. “Sometimes, we ask patients if they've had their blood work done, based purely on what we see on their tongue,” he adds. In some cases, dentists can even detect undiagnosed diabetes or early signs of nutritional deficiencies.

What Mother's Oral Health Can Predict About Their Babies

Dr. Arora also highlights the overlooked risks that pregnant women face when they neglect their dental hygiene. “If you are pregnant and suffer from periodontitis or even gingivitis — essentially poor gum health — you are at risk of having a preterm or low-birth-weight baby,” he says.

This isn’t just theory; it’s a well-documented risk in obstetric dentistry. Pregnant women are encouraged to get dental check-ups not just for themselves, but for the health of their unborn child.

Despite these evidences, oral health remains one of the most neglected aspects of personal healthcare. Dr. Arora believes this is partly due to a lack of awareness and the perception that dental problems are not "serious enough."

“People often wait until they’re in pain before they see a dentist, but by then, the damage might already be affecting other parts of the body,” he says. Preventive check-ups, regular cleaning, and treating gum infections early on can go a long way in improving not just oral health, but overall wellness.

Most people reach for sunscreen when heading to the beach or stepping out for a long day in the sun. But skincare experts say sun protection should not be limited to vacations or outdoor activities. Sunscreen is meant to be part of a daily skincare routine.

This often raises a common question. If you are staying indoors all day, do you still need sunscreen?

Dermatologists say the answer depends on your surroundings and daily habits.

Sunlight can still reach you indoors

Many people assume that staying inside completely protects their skin from sunlight. But this is not always true.

Dr Khushboo Jha, MBBS, MD, Chief Dermatologist Consultant at Metro Hospital and Founder of One Skin Clinic, explains that sunlight entering through windows can still affect the skin.

“While standard window glass blocks most UVB rays, which cause sunburn, UVA rays can still pass through. These rays penetrate deeper into the skin and are linked to long term concerns such as premature aging, uneven pigmentation and loss of skin elasticity,” she says.

These UVA rays are often overlooked because they do not cause immediate redness or burning like UVB rays. However, over time they can lead to visible signs of skin aging and pigmentation.

When sunscreen indoors becomes important

Dermatologists say sunscreen indoors is particularly useful for people who spend long hours near windows or in well lit spaces.

Dr Jha notes that individuals who work near windows, sit in sunlit rooms or spend time driving during the day may still be exposed to sunlight. “Even short periods of daily exposure to sunlight over time can contribute to cumulative skin damage,” she explains.

In such situations, applying sunscreen in the morning can offer an added layer of protection. A broad spectrum sunscreen with at least SPF 30 is generally recommended.

This approach is especially relevant for people working in offices with large windows or those who frequently commute during daylight hours.

What if you are away from windows?

Experts also say sunscreen use indoors is not always equally necessary for everyone.

If you spend most of the day inside a room with minimal natural light and away from windows, your exposure to ultraviolet radiation becomes much lower.

Dr Jha says that in such cases the urgency of frequent sunscreen reapplication becomes less important. The risk of sun related skin damage is significantly reduced when there is little to no direct daylight entering the space.

This means sunscreen indoors should not be treated as a strict rule but rather as a flexible part of skincare based on lifestyle and environment.

What about blue light from screens?

Another topic that often comes up is blue light exposure from digital devices such as phones, laptops and tablets.

Some studies suggest that prolonged exposure to visible light may contribute to pigmentation, especially in individuals with deeper skin tones. However, dermatologists point out that the amount of blue light from electronic screens is much lower than what we receive from natural sunlight.

Dr Jha says the effect of digital screens on the skin is still being studied, but compared to sun exposure, the impact remains minimal.

A practical approach to daily skincare

Dermatologists suggest viewing sunscreen as a preventive skincare habit rather than a rigid rule.

Dr Jha recommends incorporating sunscreen into your morning routine, particularly if your day includes stepping outdoors or spending time in naturally lit environments.

In simple terms, if daylight reaches your workspace or you plan to go outside later in the day, applying sunscreen in the morning is a small step that can help protect your skin over time.

At the age of 28, Courtney Paton realized she could never have children. She was medically infertile. This was after years of repeated surgeries, a total of seven, for 'suspected' endometriosis, due to which Dr Simon Gordon, Melbourne-based gynecologist removed both her ovaries and eventually her uterus.

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Her story came to light through an investigation by the Australian Broadcasting Company or ABC's Four Corners, an investigation that looked at the treatment she received from Dr Gordon.

Courtney says she trusted the doctor completely. Now she says that trust has been shattered. “I feel completely betrayed by not only Simon Gordon, but by Epworth, by the healthcare system,” she told the program.

A Wrong Diagnosis That Led to Repeated Surgeries

Courtney first had laparoscopic surgery in 2018 with another surgeon, which confirmed she had endometriosis. The condition affects about one in seven Australian women and can cause severe pelvic pain and fertility problems.

Still struggling with pain, she began seeing Gordon in 2019 when she was 21.

Over the next several years she underwent seven surgeries with him. Gordon told her the procedures were necessary to treat severe endometriosis. Courtney and her family paid more than 32,000 Australian dollars for these surgeries alone.

But when investigators asked her to obtain her pathology reports, the results told a very different story. The tissue tests from most of her surgeries showed no evidence of endometriosis.

Despite this, operation reports written by Gordon continued to describe findings consistent with the disease.

Read: A Woman Lost Her Ovary To Endometriosis Surgery After Receiving An Ultimatum From Gynecologist

Removal of Both Ovaries

In 2021 Gordon removed one of Courtney’s ovaries, saying it was stuck to the pelvic wall. Later he removed the second ovary as well.

Independent specialists who reviewed the pathology for the investigation said the ovary appeared normal and there was no clear justification for removing it. One expert described the treatment as “unbelievable” after reviewing the medical records.

Medical guidelines generally advise caution when removing ovaries from young women who may want children in the future.

Read: This Is Endometriosis, A Short Film On Debilitating Health Condition Wins BAFTA Award 2026, Know More

A Hysterectomy At 25

Despite losing both ovaries, Courtney continued to experience pelvic pain. Gordon later advised that she should undergo a hysterectomy.

Concerned, she sought a second opinion from another gynecologist who said the procedure was unnecessary and suggested non surgical treatments.

But after years of pain and repeated surgeries, Courtney says she felt desperate for relief and trusted the doctor who had treated her for so long. Her uterus was removed in 2023 when she was just 25.

Again, pathology results found no evidence of endometriosis.

Investigation and Legal Action

Courtney is now pursuing legal action through a medical negligence claim. The case has also drawn attention from regulators, with investigations underway into Gordon’s conduct.

Australia’s federal health minister Mark Butler described the allegations as “physically sickening”.

For Courtney, the emotional impact remains overwhelming.

“No woman should ever have to endure what I’ve endured,” she said. “I’ve had the opportunity to have a family taken away from me.”