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.”

In a bizarre medical case, a 28-year-old US man began seeing his pet cat Luna’s features on human faces after brain surgery. These included almond-shaped eye sockets enlarged pupils and stripes.

If Karl sees Luna first thing in the morning, he continues to see her features on human faces throughout the day, whether in person or online.

However, if he wakes up looking at a human face, he may see that person’s pupils and eye shape on other people’s faces and even on his cat.

According to a case report published in the journal Cortex, Karl experiences a form of palinopsia, in which something seen earlier persists or reappears in subsequent perception. In his case, this causes facial distortions known as prosopometamorphopsia (PMO).

How Did The Condition Begin?

Also read: Rare Canine Tooth Found In Indian Teen’s Eyelid: What Is An Ectopic Tooth?

Karl, who lives in the northeastern US, has experienced the condition for two years. It began after surgery to remove part of his right temporal lobe to treat an arteriovenous malformation (AVM), an abnormal tangle of blood vessels connecting arteries and veins that can cause bleeding in the brain.

The right temporal lobe plays an important role in face processing.

"This case of Karl seeing his cat's features in human faces and vice versa demonstrates that individual features can be pulled from memory and influence our ongoing perception," said lead author Brad Duchaine, professor and chair of psychological and brain sciences and principal investigator of the Social Perception Lab at Dartmouth.

More Than 250 People Experience Facial Distortions

Karl is not alone. According to Duchaine's lab, more than 250 people experience facial distortions. Many are mistakenly diagnosed with psychiatric problems.

"We have heard from people who have been told that they had a psychiatric problem and, in some cases, have even been put on antipsychotics, when they are in fact just having visual problems," Duchaine said.

Duchaine also cited a 1986 study published in Cortex. It described a woman who saw a poodle sitting on a passenger's lap while riding a bus. She then began seeing the poodle's face on every passenger. The woman had experienced a stroke nine months earlier.

Unlike that case, Karl sees individual facial features transferred between faces rather than entire faces.

How AI Can Help

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

Duchaine used a large language model to turn a line drawing of Karl’s experience into a photorealistic image. He then worked with Karl to refine the visuals featured in the report.

AI-generated images can help researchers understand visual distortions and help patients explain their experiences to doctors, friends and family, Duchaine said, adding that he will continue working with Karl to decode more about the condition.

What Is Prosopometamorphopsia?

Prosopometamorphopsia (PMO) is a rare visual condition in which faces or facial features appear distorted due to changes in the brain's face-processing network. The term combines prosopo (Greek for face) and metamorphopsia (perceptual distortion).

People with PMO may see facial features as:

• Droopy or stretched

• Larger or smaller than normal

• Displaced or out of position

• Distorted in specific parts of the face

Two prominent subtypes are:

• Full-face PMO: The entire face appears distorted

• Hemi-PMO: One half of the face appears distorted

Most cases last days or weeks, although some persist for years. Around 75 case reports have so far been published.

Rubbing your eyes is a common habit, often triggered by itching, dryness or tiredness. However, frequent and vigorous rubbing can damage the cornea and increase the risk of keratoconus, a progressive condition that causes it to thin and bulge outward, experts warn.

World Keratoconus Day is observed every year on November 10 to raise awareness about the condition.

Early diagnosis is important to slow its progression. Frequent changes in spectacle prescriptions or deteriorating vision should prompt an eye examination.

Why Should You Avoid Rubbing Your Eyes?

Frequent or aggressive eye rubbing can put mechanical stress on the cornea, potentially weakening its structure and worsening existing eye conditions.

Speaking to HealthandMe, Dr Janhvi Mehta, Consultant Ophthalmologist, Jaslok Hospital and Research Centre, Mumbai, said, "Frequent or vigorous eye rubbing can damage the cornea, particularly by contributing to keratoconus. It can also cause corneal epithelial injury and worsen existing ocular allergy."

Repeated rubbing can:

• Contribute to corneal thinning and biomechanical weakening.
• Accelerate keratoconus in susceptible individuals.
• Cause corneal abrasions and increase the risk of infection.

Also read: Ozempic, Zepbound: US FDA Orders New Warning Over Rare Eye Risk

Dr Mahipal Singh Sachdev, Chairman and Managing Director, Centre for Sight Group of Hospitals, explained that excessive rubbing puts pressure on the cornea and can damage its collagen structure.

"The cornea might become thinner than usual or its shape may become uneven, leading to impaired vision. Hence, people should avoid the habit of rubbing their eyes," he told HealthandMe.

Why Are Children More At Risk?

Children with allergies, especially allergic conjunctivitis, may be more vulnerable to keratoconus because of frequent eye rubbing.

Allergies can cause persistent itching, redness, watering, and discomfort, encouraging children to rub their eyes repeatedly. The resulting mechanical stress may contribute to the development or progression of keratoconus in susceptible individuals.

The experts urged parents to watch for excessive rubbing and changes in their children's vision. Timely allergy treatment and regular eye examinations can help identify potential problems early.

Other risk factors for keratoconus include:

• Vernal keratoconjunctivitis (VKC)
• Atopic eye disease
• Family history of keratoconus
• Genetic predisposition
• Certain connective tissue disorders

However, not everyone who frequently rubs their eyes develops keratoconus.

Read More: 6 Million People In Delhi Living With Poor Vision: AIIMS Study

Why Is Keratoconus Often Diagnosed Late?

Dr Janhvi noted that keratoconus commonly begins during adolescence or early adulthood but may remain undiagnosed until vision deteriorates.

Its early symptoms can resemble common refractive errors such as myopia. Children and young adults may experience mild blurring or require frequent changes in their spectacle prescriptions, which can be mistaken for routine vision changes.

The condition can also progress gradually and initially affect only one eye, making changes harder to recognise. Routine eye examinations may not always detect early keratoconus without specialised corneal assessment, Dr. Mahipal said.

Warning signs to watch for include:

• Increasing myopia
• Progressive or irregular astigmatism
• Frequent changes in spectacle prescriptions
• Reduced visual clarity despite corrective lenses
• Ghosting, glare or double vision in one eye
• Difficulty driving at night

Increasing astigmatism despite repeated spectacle corrections is an important warning sign that warrants further evaluation.

Read More: Sudden Floaters, Flashes Or Blurred Vision? When Should You Seek Emergency Care For Retinal Changes

How Can You Prevent Corneal Damage?

Preventing excessive eye rubbing and managing its underlying causes can help reduce avoidable stress on the cornea.

1. Break the eye-rubbing habit

• Avoid pressing or massaging closed eyelids.
• Use a cold compress when your eyes itch.
• Avoid rubbing your eyes even through a towel or handkerchief.
• Keep children's fingernails short to minimise accidental injury.

2. Treat underlying allergies

If itching triggers eye rubbing, consult an ophthalmologist about appropriate treatment. Options may include topical antihistamine or mast-cell stabiliser drops, such as olopatadine or ketotifen.

Other measures include:

• Using preservative-free artificial tears for irritation
• Treating associated blepharitis or dry eye
• Avoiding prolonged use of topical steroid drops without medical supervision

3. Reduce exposure to environmental triggers

• Avoid dust, smoke and known allergens
• Wear protective glasses outdoors
• Avoid direct airflow from air conditioners.

Come Saturday morning, many people have just one thing on their mind: catching up on sleep. After a week of early mornings, office deadlines, late-night screen time and household responsibilities, the weekend feels like the perfect opportunity to stay in bed for a few extra hours. Some people even sleep until noon, believing that the extra rest will make up for all those late nights. But is it really possible to undo five days of poor sleep in just two days?

Unfortunately, the brain doesn't work that way. Sleeping longer over the weekend can certainly help you feel less tired, but it cannot completely compensate for a week of inadequate sleep.

Sleep is much more than physical rest. It is when the brain gets down to some of its most important work. Memories are processed, information gathered during the day is organised, and the brain gets an opportunity to recover from constant activity. When we repeatedly cut short our sleep, these processes can suffer.

Why Do We Feel Better After Sleeping In?

Think about how you feel after several nights of going to bed late. You may find yourself forgetting small things, struggling to concentrate during meetings or becoming unusually irritable over minor issues. These are some of the ways sleep deprivation can affect everyday functioning.

Sleeping for a few extra hours over the weekend can ease some of this fatigue. You may feel more alert and find it easier to concentrate. However, feeling refreshed is not necessarily the same as being fully recovered. Certain effects of repeated sleep restriction, particularly on attention and reaction time, can take longer to resolve.

Can Weekend Lie-ins Disturb Your Sleep Cycle?

There is another side to this weekend habit that people rarely consider. If you sleep at 11 pm during the week but stay awake until 2 or 3 am on Friday and Saturday, your body's internal clock can get disrupted.

This internal timing system, called the circadian rhythm, helps regulate when you feel sleepy and when you wake up. Large changes in sleep timings can make it harder to fall asleep on Sunday night. Before you know it, Monday morning arrives and you are back to feeling exhausted.

It becomes a familiar cycle: insufficient sleep during the week, prolonged sleep on weekends and difficulty getting back into a routine.

What Does Repeated Sleep Deprivation Do To The Brain?

One of the biggest areas affected is memory. Sleep plays an important role in consolidating information, which is why a poor night's sleep can make it harder to remember things or absorb new information the following day.

It can also affect emotional regulation. People who regularly sleep less may become more impatient, anxious or sensitive to everyday stress. Their ability to focus and make decisions may also take a hit.

Persistent sleep deprivation has also been associated with metabolic and cardiovascular problems. It is therefore important not to treat poor sleep as an unavoidable part of a demanding work schedule.

What Is A Healthier Way To Catch Up On Sleep?

Rather than depending on Saturday and Sunday to recover, try making small changes to your routine throughout the week.

• Keep a consistent schedule: Try to go to bed and wake up at roughly the same time every day.
• Don't compromise on sleep duration: Most adults need around seven to nine hours of sleep each night.
• Put your phone away before bedtime: Late-night scrolling can keep the mind stimulated and delay sleep.
• Be mindful of caffeine: That evening cup of coffee may be affecting your ability to fall asleep.
• Step outdoors in the morning: Natural daylight helps regulate the body's sleep-wake cycle.
• Pay attention to persistent tiredness: If you wake up exhausted despite getting enough sleep, speak to a doctor. Sleep disorders such as obstructive sleep apnoea may need to be ruled out.

Your brain needs rest every day, not just when the calendar says it is the weekend. Instead of treating sleep as something you can postpone and recover later, make it a non-negotiable part of your daily routine.