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.”

Doctors in India’s southern state of Tamil Nadu surgically removed a fully developed canine tooth from the upper eyelid region of a 16-year-old boy. They described the case as the first reported instance of an ectopic tooth in the upper part of the eye socket.

The case was reported by specialists at Aravind Eye Hospital in Madurai in the journal Ophthalmology.

What Did The Doctors Find?

The teenager visited the hospital with painless swelling of his left upper eyelid that had lasted a month. He had no history of injury to the area.

During the examination, doctors noticed two firm, whitish projections beneath the swollen area near the inner side of the upper eyelid, the experts shared in the paper.

A computed tomography (CT) scan revealed a dense structure resembling a tooth, with a crown and root, originating from the roof of the left eye socket. It extended towards the tissues in front of the orbital septum, a thin barrier separating the eyelid from the deeper eye socket, and protruded outwards with two tooth-like points on its surface.

The projections' appearance and texture raised the possibility that they were teeth. Dr. Meghana Tanwar, a medical consultant at Aravind Eye Hospital, told Live Science that they had a “fairly smooth surface and were hard on palpation.”

The doctors surgically removed the structure. Examination confirmed that it was a mature canine tooth without teratomatous elements, consistent with an ectopic tooth in the upper part of the eye socket.

Also read: Hours Of Sitting, Gaming And Binge-Watching OTT? Doctors Warn Of Blood Clot Risk In Young People

What Is An Ectopic Tooth?

An ectopic tooth develops or emerges in an abnormal location. Some remain within the mouth but appear outside their usual positions in the dental arch, while others develop outside the normal arrangement of teeth.

The latter is particularly unusual. In this teenager's case, the tooth was located in the upper orbital region rather than within the normal dental arch.

Before confirming the diagnosis, doctors considered whether the projections could be associated with a teratoma, a type of tumor that can contain different tissues, including bone and tooth tissue. They also considered whether a foreign object might be lodged in the eyelid.

Imaging and examination of the removed structure helped establish that it was a mature tooth rather than tissue associated with a teratoma.

Why Is This Case Unusual?

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Ectopic teeth have been documented in several locations, including the nasal cavity, chin and maxillary sinus, an air-filled cavity within the cheekbone. Previous reports have also described teeth in the lower part of the eye socket.

However, the doctors said they could not find an earlier report of an ectopic tooth in the superior orbit, the upper region of the eye socket.

“To the best of our knowledge this is the first and only ectopic tooth reported in the superior orbit,” Tanwar told Live Science.

“This was a first not just for us but the world over,” she said of the case. “We were very surprised by it.”

What Causes Ectopic Teeth?

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The doctors could not determine why the tooth developed in this unusual location.

Possible explanations for ectopic tooth development include abnormalities during development, genetic factors, infections and physical trauma. However, the cause in this case remains unknown.

Imaging did not reveal any additional ectopic teeth. Tanwar said the likelihood of the teenager developing another such tooth was low.

Pancreatic cancer is one of the cancers doctors find particularly difficult to detect early. The pancreas lies deep inside the abdomen, and early disease may cause few or vague symptoms. By the time symptoms such as jaundice, unexplained weight loss, abdominal or back pain or persistent digestive problems become apparent, the disease may already be advanced.

What Is PANXEON, The New Liquid Biopsy?

This is why the findings of a new international study on PANXEON, an investigational liquid biopsy, are attracting attention. Published in Nature Medicine, the study evaluated 1,785 people across four countries and explored whether a blood sample could identify early pancreatic ductal adenocarcinoma, the most common form of pancreatic cancer.

The principle behind the test is relatively simple. Cancer cells release molecular material into the bloodstream. PANXEON looks at a group of tiny molecules called microRNAs, including those carried inside microscopic packages called exosomes. These molecules can provide molecular clues about what is happening in the pancreas. The test combines this microRNA signature with CA19-9, a blood marker already used in pancreatic cancer, particularly for monitoring patients, although CA19-9 alone is not suitable as a general screening test.

Also read: Dr Rachna Shroff: Indian-American Cancer Researcher Who Turned Her Diagnosis Into Advocacy

In the study, the microRNA test detected early-stage pancreatic cancer with a sensitivity of 83.8%. When combined with CA19-9, PANXEON reached 86.8% sensitivity for stage I-II disease. Importantly, false-positive rates were 3.2% among low-risk controls and 15.6% among high-risk controls. The researchers also reported that the test showed potential for identifying high-grade dysplasia in people with high-risk pancreatic cysts.

For India, this research is relevant because pancreatic cancer, although less common than several other major cancers, represents a significant clinical challenge. India’s National Cancer Registry Programme estimated about 21,000 pancreatic cancer cases in 2022. Globally, GLOBOCAN estimated more than 510,000 new cases in the same year.

Is PANXEON Ready For Routine Screening?

But there is an important caveat: PANXEON is not yet a routine screening test. There is currently no standard screening test recommended for people at average risk of pancreatic cancer. Screening is generally considered for selected high-risk individuals, such as those with significant family histories or certain inherited genetic risks.

The new findings therefore represent a promising research direction, rather than a test people should independently seek out today. A useful early-detection test must work reliably in much larger, diverse populations and demonstrate that detecting cancer earlier actually improves outcomes.

For patients and doctors, however, the concept is important. Instead of waiting for a tumour to become large enough to produce obvious symptoms or visible changes on imaging, researchers are increasingly asking whether the molecular footprints of cancer can be detected in a simple blood sample. PANXEON is one more step towards answering that question.

I have often heard a familiar bedtime story: “I picked up my phone for five minutes, and suddenly it was 1 a.m.” The person is exhausted, yet continues scrolling through upsetting news, frightening predictions or other people’s lives.

Doomscrolling is not simply a lack of discipline. Our brains are naturally drawn towards possible threats because noticing danger has always supported survival. Each alarming headline tells the nervous system that there may be something important it must understand. The next post promises more information and perhaps a sense of control, so we continue scrolling.

How Stress And Anxiety Fuel Doomscrolling

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For someone already carrying stress or past trauma, uncertainty can feel especially difficult. Scanning for information may become the brain’s way of asking, “Am I safe? Is there something I need to prepare for?” Unfortunately, the answer rarely arrives. Instead, every new story introduces another concern.

Consider someone who goes to bed after a demanding day. Their body is tired, but their mind has had no opportunity to process what happened. They open social media for relief and encounter distressing content. Their heart rate increases, their thoughts become faster and sleep moves further away. The phone may distract them from uncomfortable feelings temporarily, while also keeping their system alert.

Screens can delay sleep by displacing bedtime and exposing us to light, but the emotional content matters too. Anger, fear and comparison create cognitive arousal, the opposite of the slowing down that sleep requires.

Simple Ways To Break The Doomscrolling Cycle

Rather than imposing a harsh digital ban, begin with a realistic boundary.

- Choose a time to stop reading news, charge the phone away from the bed or replace the final 20 minutes of scrolling with something less stimulating.

- Dim the lights, stretch gently, listen to familiar music or write down tomorrow’s worries so the brain does not have to keep rehearsing them.

- If you slip, respond with curiosity rather than criticism: “What was I trying not to feel, or hoping to find?”

When doomscrolling repeatedly disrupts sleep or becomes the main way you manage anxiety, therapy can help explore the need beneath the habit. The aim is not merely to take away the phone, but to help the nervous system discover safer ways to settle.

Sometimes, switching off the screen begins with helping the mind believe that it is safe to stop watching.

By Ms Arouba Kabir, Psychologist, Founder Enso wellness