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.”

US journalist Norah O’Donnell recently spoke about the importance of early skin cancer detection a decade after being diagnosed with melanoma, the most dangerous form of skin cancer.

She said her experience changed her outlook towards sun protection. She also shared advice related to skin cancer from her dermatologist, Dr Elizabeth Hale.

According to CBS News, O’Donnell recalled that it was during a routine dermatology appointment when Hale noticed two concerning spots on her back.

A biopsy confirmed melanoma, but the cancer was detected early and removed before it could spread.

O’Donnell said she now seeks shade wherever she can find, wears UV-protective clothing and regularly reapplies broad-spectrum sunscreen when spending time outdoors. She also reflected on her past exposure to sunburns and tanning salons.

Detecting Melanoma Early

Melanoma develops in the cells that produce melanin, the pigment responsible for skin colour. Although it accounts for a smaller proportion of skin cancer cases, it is responsible for an alarming share of skin cancer deaths.

Hale emphasised that early detection can make a considerable difference. “Even though it only accounts for 5% of new cases of skin cancer, it’s responsible for more than 75% of skin cancer-related deaths,” she said.

She also spoke about the importance of getting suspicious spots examined rather than waiting for them to become more noticeable and serious.

“There have been major advances in melanoma treatment, but it’s still really best to get your skin checked because when melanoma is caught early it has greater than a 99% five-year survival. But once it spreads, that survival rate goes down precipitously,” Hale said.

Also read: Jeana Keough’s Cancer Battle: Why The ‘RHOC’ Star Is Struggling To Recover After Tongue Cancer Treatment

Tanning Beds And Sunburns Increase Melanoma Risk

Speaking about skin cancer risks related to tanning beds and sunburns, Hale said melanoma cases have been increasing among women in their 20s and 30s.

“It is directly related to exposure to tanning beds and to sunburns,” she said.

According to the Skin Cancer Foundation, using tanning beds before 35 could increase melanoma risk by 75%.

Hale also warned against the growing trend of deliberately seeking a tan through prolonged, unprotected sun exposure.

“There really is no such thing as … a safe, healthy tan,” she said.

A tan is not simply a cosmetic appeal. As Hale explained, it denotes “DNA damage” that may contribute to cancer later in life.

Also read: Daily Vaping In The US Surged 230%; Nearly 50% Of Young Adult Daily Vapers Used High-Nicotine E-Cigarettes: Studies

What Does Her Dermatologist Recommend?

Hale recommends regular skin examinations to nab suspicious skin changes early. She advises people to discuss their individual cancer screening needs with a dermatologist, especially if they have a family history of skin cancer.

Sun protection is another essential part of prevention. Hale recommends using a broad-spectrum sunscreen with SPF 30 or higher and reapplying it every two hours when spending extended periods outdoors.

Her advice on choosing sunscreen is straightforward: “the best sunscreen is the one you’ll actually use”.

Non-Negotiable Sunscreen Ritual

As per the Johns Hopkins Medicine, wearing sunscreen is the easiest and the best ways to protect your skin's appearance and health at any age. It recommends to use it regularly to prevent sunburn, skin cancer, and premature aging.

While everyone needs sun exposure to produce vitamin D, unprotected exposure to the sun's UV rays can cause damage to the eyes, skin, and the immune system.

To protect, apply 1 ounce of sunscreen throughout your body. To protect your face and neck, you will need about half a teaspoon of sunscreen.

Experts also believe that as long as the sunscreen is at least SPF 30 and is water-resistant, it does not matter what order you apply your skin care products. While some people find it is easiest to work with bare skin, some do it at the end.

Protective clothing and seeking shade can provide additional protection, especially during prolonged outdoor activities.

Arthritis is sometimes treated like a normal part of getting older. Yet it can show up in many age groups. It can also limit how freely someone moves. That can affect daily independence and overall comfort.

Some people think arthritis care always means an operation, like joint replacement. In reality, the path to care is wider. What happens next depends on symptoms, which joint is affected, a person’s age, how active they are, and their general health.

Early-Stage Arthritis: Why Physiotherapy And Exercise Matter

Where the disease is in its early stages or is perceived to be mild, treatment will begin in a very low-key manner. This will involve physiotherapy and exercise. Where necessary, losing excess body weight can be beneficial. Minor changes in daily activities will decrease stress. Doctors will prescribe medication depending on the situation. Here, the main objective is to alleviate symptoms and maintain function. It will not be the initial step and will only be considered where appropriate.

In case arthritis is severe, pain and stiffness will persist for a long period of time. Performing simple activities becomes difficult. Even walking will become challenging. Sleep may also be affected. When this happens, it helps to check again. Doctors can use exam findings and imaging to see how much the joint has changed. They can also review whether non-surgical care is working as expected.

Also read: Arthritis Day: Stanford Researchers Explore Possibility To Treat Osteoarthritis Without Knee Replacement Surgery

How Doctors Decide On The Right Treatment

Good arthritis care is about choosing the right path for the right person. Timing matters too. It begins with a close look at symptoms and a clear diagnosis. Sometimes it also means getting scans when they are needed. After that, the plan should rely on what the best research shows.

Treatment should be set up with rehab in mind. The aim is to fit the person, not just the label on the chart. One person may do well with physical therapy and simple habit shifts. Another person may need a procedure, mainly when a joint is badly worn.

Why Early Arthritis Management Matters

The main goal is easier daily comfort and better movement. Just as important, it should help someone keep their independence. It is also not only about chasing the newest option.

People should not wait until pain makes normal life hard. When they seek help early, it can be easier to see what is driving the joint pain. It can also help show how far the arthritis has gone. With that in hand, a care plan can be built with more clarity.

When care starts early and matches the person, many can stay active longer. They may also better protect joint function and keep it working well for more time.

As pollution levels rise in October, doctors warn that exposure to particulate matter can affect lung and heart health, aggravate existing respiratory conditions, and cause symptoms even in otherwise healthy individuals, particularly as winter approaches.

PM2.5 and PM10 can irritate the respiratory tract, while fine particles such as PM2.5 can penetrate deep into the lungs, with some entering the bloodstream.

Delhi woke up to poor air quality on Thursday, with the Commission for Air Quality Management’s (CAQM) AQI dashboard recording an Air Quality Index (AQI) of 226 across Delhi-NCR at 7 am.

As per the CAQM’s dashboard, some areas of the national capital recorded very poor air quality, with an average AQI of 307.

The Commission for Air Quality Management (CAQM) on Wednesday imposed Stage I of the Graded Response Action Plan (GRAP) across Delhi-NCR after the capital's air quality slipped into the 'poor' category.

According to the Air Quality Early Warning System, Delhi's air quality is likely to remain in the 'poor' category until October 23. The forecast for the following six days also indicates that pollution levels are likely to remain in the same category.

Also read: Delhi Air Pollution Is Back: What Days Of Poor AQI Can Do to Your Lungs

How Air Pollution Affects Lung And Heart Health

Dr. Amit Kumar Mandal, Senior Director - Pulmonology, Paras Health Panchkula, told HealthandMe that air pollution can cause inflammation in the airways and worsen asthma, chronic obstructive pulmonary disease (COPD) and other respiratory conditions. It can also increase the risk of cardiovascular complications.

The effects may not always be immediately noticeable. People may experience persistent coughing, throat irritation, wheezing or breathlessness. Repeated exposure over time can contribute to more serious health problems, even in people without pre-existing conditions.

Dr. A.S. Sandhya, Consultant, Pulmonary & Sleep Medicine, Kailash Hospital & Neuro Institute, told HealthandMe that October can mark the beginning of a prolonged period of poor air quality in Delhi-NCR.

When pollution combines with changing weather conditions, people with asthma, bronchitis and COPD may experience more frequent symptoms. However, healthy individuals can also develop eye irritation, coughing, throat discomfort and reduced exercise tolerance after exposure to polluted air.

How To Protect Yourself From Rising Pollution

Read More: Can Delhi’s Air Pollution Increase GI Cancer Risk? Doctors Report Patients As Young As 15

Doctors recommend monitoring daily AQI levels and limiting exposure when air quality is poor.

Dr. Mandal advises reducing prolonged outdoor activity and avoiding exercise near busy roads during high-pollution periods. Children, older adults, pregnant women and people with respiratory or heart conditions should take extra precautions.

Dr. Sandhya recommends limiting strenuous outdoor exercise when pollution levels are high and using a well-fitted N95 mask when outdoor exposure cannot be avoided.

Indoor air quality also matters, particularly for children and older adults who spend extended periods at home. Air purifiers with suitable filtration may help reduce indoor particulate matter, although they do not eliminate all pollutants.

When To Seek Medical Advice

People should not ignore persistent coughing, wheezing or unusual breathlessness. Those experiencing persistent breathing difficulties, chest discomfort or worsening respiratory symptoms should consult a doctor.

People with existing medical conditions should follow their treatment plans and seek medical advice if their symptoms worsen.

Taking preventive measures now, rather than waiting for pollution to peak in winter, can help reduce exposure and the risk of avoidable health complications in the months ahead.