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.”

For many women, polycystic ovary syndrome (PCOS) begins with a familiar story—irregular periods, acne, unwanted hair growth or difficulty conceiving. But PCOS is far more than a reproductive disorder. At its core, it is often a complex interplay between metabolism, hormones and reproductive health.

One of the most important, yet frequently overlooked, pieces of this puzzle is insulin resistance. When the body becomes less responsive to insulin, the pancreas compensates by producing more.

Elevated insulin levels can, in turn, contribute to increased androgen production by the ovaries and disrupt the delicate hormonal signals required for regular ovulation. The result may be irregular cycles, fewer ovulations and, for some women, difficulty becoming pregnant.

PCOS And Insulin Resistance Can Affect Women Of Any Weight

Importantly, PCOS and insulin resistance are not synonymous with obesity. Women with a healthy body weight can also have significant metabolic abnormalities. This is why judging metabolic health by appearance alone can be misleading.

The 2023 International Evidence-based PCOS Guideline recognises insulin resistance as an important underlying feature and recommends attention to metabolic risk across the weight spectrum.

Also read: Decoding The Fertility Markers

The Metabolic Risks Go Beyond Fertility

The metabolic implications extend well beyond fertility. Women with PCOS have a higher risk of impaired glucose tolerance and type 2 diabetes, making long-term metabolic surveillance an important part of care.

The guideline recommends appropriate glycaemic assessment, particularly when pregnancy is being planned or fertility treatment is being considered.

Also read: Can Regular Consumption of Junk and Processed Food Affect Fertility?

Building A Healthier Foundation For Pregnancy

Yet there is an equally important message of hope: PCOS does not mean infertility, nor does it have to define a woman’s health journey. Lifestyle interventions—including regular physical activity, nutritious eating, adequate sleep and sustainable weight management where appropriate—form the foundation of care and can improve metabolic health.

For a woman planning pregnancy, the goal should not simply be to “get pregnant.” It should be to enter pregnancy metabolically and emotionally healthier, with blood sugar, blood pressure, nutrition, lifestyle and other risk factors appropriately addressed.

Take-home message: PCOS is not merely about irregular periods or cysts on the ovaries. It is a lifelong condition in which metabolic health and reproductive health are deeply connected. Recognising insulin resistance early, looking beyond weight, and providing personalised care can help women protect both their fertility today and their health for years to come.

The view generally is that the occurrence of knee issues is usually associated with age, injury or overexertion. However, there is another reason people ignore: lack of movement. If a person leads an inactive lifestyle, spending long hours sitting at a desk, working from the couch, watching TV or doing nothing physical, the eventual consequences for the knees might arise.

Knees are created for motion, and motion is essential for keeping the flexibility of a joint. Their effective functioning depends on the health of the muscles surrounding your knee. The less active various leg muscles are, including quadriceps and other counterparts, the weaker they will be. The muscles help stabilize the knee and can relieve it from some of the burdens during daily activities performed by the knees.

Remaining seated for an extended time can also lead to stiffness. When you sit for a while, you may feel uncomfortable or stiff in your knees when you finally stand up. While the occasional instance of stiffness may go away with movement, constant stiffness can impact mobility and cause people to wish to move even less.

Another issue is gaining weight. Living a sedentary lifestyle causes individuals to become heavier, and excess weight puts more stress on the knees. In time, this added pressure will lead to increased wear of the joints and the development of knee pain and other problems in the musculoskeletal system.

The positive aspect with respect to your knees is that you don’t have to put in hours at the gym to keep them safe. Small, steady efforts can easily do the trick. You can choose to walk for five minutes after being seated for a long time, stretch regularly, take stairs if you are physically able and do some simple workouts for the legs and thighs to increase strength. Low-impact sports such as swimming, cycling and walking can help you maintain muscle power and flexible joints while avoiding the stress on your knees resulting from extensive workouts.

Persistent pain in the knee, however, cannot be treated as a usual symptom of ageing. Knee swelling or prolonged stiffness, difficulties climbing stairs, instability, or pain that has an impact on routine activities should be addressed by health professionals.

Movement is necessary for knees to be strong and flexible. Therefore, if you want your knees to be strong, you need to use them consistently and perform all activities without remaining still for long.

(By Dr Sujoy Bhattacharjee, Chairman & Chief, Max Institute of Robotic Joint Replacement, Max Super Speciality Hospital, Saket)

Blocked ears are one of the most common and irritating problems associated with air travel.

While the sensation usually resolves on its own shortly after landing, for 22-year-old Aida Burkins from California, it persisted and eventually led to a frightening diagnosis of rare head and neck cancer.

Blocked Ears Persisted After Flight

Burkins was travelling to Chicago in May 2025 when her ears became blocked. When she returned home, her ears still hadn’t popped.

She later developed unusual symptoms, including hearing loss and bleeding from her throat.

“I started bleeding into my throat, which would only come out of my nose if I was bent at the hip at about 90 degrees,” the 22-year-old told Newsweek. “My hearing got worse and worse. Then I started getting more tired and losing weight.”

Symptoms Were Initially Dismissed

When Burkins sought medical help, her condition was initially dismissed as “just altitude sickness.” After several months, her hearing had deteriorated significantly.

“Everything sounded so muffled, and I had a ringing that wouldn’t go away,” she said.

Burkins eventually saw an ear, nose, and throat (ENT) specialist, who discovered a mass and noted that her adenoids — soft tissue in the throat, just behind the nose — were inflamed.

“The doctor told me he had never seen anything quite like what I had going on. He couldn’t be sure it was cancer, but he said it was very suspicious,” she told the outlet.

Diagnosed With Rare Head And Neck Cancer

In February 2026, after undergoing CT scans and two biopsies, Burkins learned that she had a widespread tumour affecting the cervical lymph nodes near the base of her skull.

She was diagnosed with nasopharyngeal carcinoma, a rare type of head and neck cancer that starts in the upper part of the throat behind the nose and near the base of the skull, according to the American Cancer Society.

“Hearing I have cancer, all I thought about was not being able to see my babies grow up or do the things they want to do in life. It was horrifying,” Burkins, who is a mother to a 1-year-old and 3-year-old.

Burkins has since undergone months of chemotherapy and radiation. She is now finishing her treatment and hopes to be cancer-free soon as her body is responding well to the treatments.

What Is Nasopharyngeal Carcinoma?

According to the Mayo Clinic, nasopharyngeal carcinoma is a cancer that starts as a growth of cells in the nasopharynx, the upper part of the throat located behind the nose.

The cancer is rare in the United States and occurs much more often in other parts of the world, particularly Southeast Asia.

Nasopharyngeal carcinoma can be difficult to detect early because the nasopharynx is not easy to examine and there may be no symptoms initially.

Symptoms To Watch For

When symptoms do occur, they present non-classic signs which include:

• A lump in the neck caused by a swollen lymph node
• Nosebleeds
• Bloody saliva
• Double vision
• Ear infections
• Facial numbness
• Headaches
• Hearing loss
• Nasal stuffiness
• Ringing in the ears, known as tinnitus
• Sore throat

How Is It Treated?

Treatment for nasopharyngeal carcinoma usually involves radiation therapy, chemotherapy, or a combination of the two, depending on the cancer and the individual patient.