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.”

Glaucoma is an umbrella term for a group of eye diseases that create pressure inside your eyeball, which can damage delicate, critical parts at the back of your eye, including the optic nerve.

While most of the diseases are progressive, meaning they gradually get worse and eventually cause permanent vision loss and blindness. In fact, glaucoma is the second-leading cause of blindness worldwide and is the leading cause of blindness for people over 60 years old.

Dr Niteen Dedhia, Medical Director, Ojas Maxivision Eye Hospital tells Business Standard: "Glaucoma slowly and quietly causes damage to the optic nerve. Changes in eye pressure, blood flow and nerve fibres occur over time, while the brain often compensates for the loss.

"As a result, symptoms go unnoticed, and by the time vision loss becomes apparent, the damage is usually permanent."

Many forms of glaucoma have no warning signs and the effect is extremely gradual, to the point that you may not notice a change in vision until the condition is in its late stages.

Here are some symptoms that mid-age people need to keep an eye out for:

1. Gradual loss of circumferential vision

One of the earliest symptoms of glaucoma is damage and subsequent loss of peripheral vision. Dr Dedhia noted: “Glaucoma starts by damaging the peripheral vision but doesn’t affect the centre (front) vision."

If you seem to struggle with spotting objects approaching from the side or bump into things more often, you may be experiencing early stages of the disease and not merely experiencing normal ageing.

2. Difficulty seeing or reading in the dark or low light settings

3. Frequent changes in eye power

Dr Neeraj Sanduja, Ophthalmologist, Eye Surgeon at Viaan Eye Centre, Gurgaon told the publication: "Needing frequent prescription changes or feeling that glasses 'never feel quite right' may reflect subtle visual field changes caused by glaucoma rather than simple refractive error progression."

4. Eye pressure or unusual discomfort

Open-angle glaucoma, the most common form of the condition that causes patchy blind spots in your side vision, is often painless or limited to a mild sense of pressure or heaviness in the eyes.

Those suffering from open-angle glaucoma may notice a dull ache after prolonged screen time or reading that improves with rest. Frequently mistaken as regular eye strain, it is often ignored, however, may indicate subtle increases in eye pressure that require professional evaluation.

5. Frequent headaches with eye strain

Frequent headaches, especially when accompanied by eye strain or blurred vision, should not be ignored as migraine pain as it may signal rising eye pressure or early glaucoma changes, Dr Dedhia warns.

Who Is at Risk for Glaucoma?

Certain groups of people have a higher than normal risk of getting glaucoma which includes those who:

• have high eye pressure
• are farsighted or nearsighted
• have had an eye injury
• use long-term steroid medications
• have corneas that are thin in the center
• have thinning of the optic nerve
• have diabetes, migraines, high blood pressure, poor blood circulation or other health problems affecting the whole body
• are over age 40
• have family members with glaucoma
• are of African, Hispanic, or Asian heritage

Abnormal sleeping patterns, whether excessive or brief, can significantly increase your risk of developing chronic liver disease, an EMJ study suggests.

Sleep duration has previously been linked to worsening your chances of Type 2 diabetes; obesity; cardiovascular diseases including hypertension, stroke, heart attack; mental disorders such as depression, anxiety; weakened immune system and potentially contributing to neurological conditions such as dementia.

However, researchers have now also found that sleep disruption may intensify existing stress on the liver which can worsen metabolism and pave the way for disease progression.

The authors noted that poor sleeping habits may influence liver health for multiple reasons including by altering glucose metabolism, increasing inflammation and disrupt circadian rhythms that regulate liver function.

"Participants who reported consistently short sleep duration were more likely to have elevated liver enzymes and higher fibrosis risk scores compared with those reporting moderate sleep duration. Long sleep duration was also associated with adverse liver markers, though the relationship was weaker than that observed for short sleep," the study noted.

Despite discovering links, the involved researchers noted that the study only highlighted sleep as a potential factor that could worsen liver function along with other lifestyle reasons and did not act as a clear cause.

Why Is Chronic Liver Disease A Concern?

Once a rare condition, non-alcoholic fatty liver disease (NAFLD) now affects one in three Indians. A JAMA study has now found that about 40 percent of the global population is now suffering from NAFLD, with abdominal obesity identified as its single biggest risk factor.

Researchers found that nearly 70 percent of people with Type 2 diabetes and about 80 percent of those with obesity are affected by NAFLD. They also discovered that NAFLD prevalence is higher in men than in women, with rates of 15,731 per 100,000 population in men compared with 14,310 in women.

READ MORE: This Deadly Liver Disease Is Affecting People In Their 20s And This One Symptom Is The Red Flag

Between 2010 and 2021, India recorded a 13.2 percent increase in age-standardized prevalence, ranking just behind China at 16.9 percent and Sudan at 13.3 percent. Additionally, the disease peaks earlier in men, between 45 and 49 years of age, while women show the highest prevalence between 50 and 54 years.

NAFLD, now called as metabolic dysfunction-associated steatotic liver disease (MASLD), is when excess fat builds up in the liver, unrelated to heavy alcohol use, due to obesity, Type 2 diabetes, high blood pressure and cholesterol.

It ranges from simple fat accumulation to inflammation and damage, which can progress to fibrosis, cirrhosis or liver cancer, The disease often has no symptoms and is managed with lifestyle changes such as diet and weight loss.

Why Is NAFLD on the rise?

Poor diets (high carbs/sugar), sedentary habits and rising obesity are some of the key reasons why an uptick in NAFLD cases has been seen pan-India. Increased intake of refined carbs, sugary drinks, processed foods and unhealthy fats can increase the risk of obesity, diabetes, hypertension and high cholesterol which can pave the way for this liver disease.

Experts also note that working long hours at desks without any proper physical activity can lead to weight gain and fat accumulation in the liver.

According to the Union Health Ministry, the prevalence of the condition could be in the range of 9-53 percent. Multiple other health studies also suggest nearly 40 percent of urban Indians may have some form of fatty liver disease

Hepatologist Dr Cyriac Abby Philips, popularly known as LiverDoc on social media, noted on X that many patients do not realize that timely lifestyle changes can completely reverse the condition. “All it takes is being in charge of your body and health. No shortcuts—go slow and steady,” he wrote.

If left untreated, NAFLD can progress to Non-Alcoholic Steatohepatitis (NASH), where liver inflammation begins. Over time, this inflammation can lead to scarring of the liver, known as fibrosis. Advanced fibrosis results in cirrhosis, which severely affects liver function.

NAFLD can also increase the risk of chronic liver disease, liver failure and hepatocellular carcinoma. Many patients diagnosed with liver cancer have a history of untreated fatty liver.

Over 2 million Americans have Alzheimer's. It is the most common cause of dementia and is a progressive disease. This means the disease will get worse, however, it could be managed, though cure is not available. It is the biological process that begins with the appearance of a buildup protein in the form of amyloid plaques and neurofibrillary tangles in the brain. This causes brain cells to die over time and the brain to shrink.

What Makes Alzheimer's So Unique?

The fact that there is no cure for Alzheimer's disease is one of the most unique part of the condition. In advanced stages, loss of brain function can cause dehydration, poor nutrition or infection.

The symptoms of Alzheimer's are unique because the signs are easily miss-able. These signs could seem like a day to day problem and not anything serious. At first, it starts with trouble in remembering recent events or conversations. Over time, memory gets worse and other symptoms occur.

While everyone could have trouble with memory at times, the memory loss that happens with Alzheimer's is lasting. The signs could be:

• Repeat statements
• Repeating questions over and over
• Forgetting conversations, appointments and events
• Misplacing items, and putting the in odd places
• Getting lost in places you know very well
• Forgetting names of family members
• Forgetting names of everyday objects
• Have trouble finding the right words, expressing thoughts or having conversations

Unique Symptoms Of Alzheimer's: Cannot Recognize Numbers

Alzheimer's could also lead to trouble in concentrating, thinking, especially about abstract concepts like number. Your thinking and reasoning abilities take a hit. In fact, in many cases, people with Alzheimer's are not able to recognize numbers.

Unique Symptoms Of Alzheimer's: Cannot Perform Everyday Tasks

There are many tasks that you do in your day to day life, which come easy to you, could become difficult over time. As Alzheimer's advances, people forget how to do basic tasks such as dressing or bathing.

Read: What A Finger-Prick Blood Test Could Mean for Alzheimer’s Diagnosis

Your Personality Changes

With Alzheimer's, your personality too can change, as the disease could affect moods and behaviors. Symptoms include:

• Depression.
• Loss of interest in activities.
• Social withdrawal.
• Mood swings.
• Not trusting others.
• Anger or aggression.
• Changes in sleeping habits.
• Wandering.
• Loss of inhibitions.
• Delusions, such as believing something has been stolen when it hasn't.

Are There Any Treatments Or Cures?

UK researchers say fruit flies could help unlock why devastating brain and nerve conditions such as Alzheimer’s, Parkinson’s and motor neurone disease develop, despite decades of medical research. Scientists have known for years that many neurodegenerative disorders are linked to genetic mutations. What has remained unclear is how those mutations actually trigger disease inside the nervous system.

According to the Mirror, new findings published in the journal Current Biology suggest a breakthrough may lie in studying fruit flies, insects whose genes behave in strikingly similar ways to those in humans.