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.”

The shape of your gluteus maximus, the largest muscle in your backside, may offer surprising clues about your likelihood of developing diabetes. New research suggests that the contours of this major muscle change with age and health conditions, helping scientists better understand how fitness, muscle health, and metabolism are connected.

Ageing, Weight, and Diabetes: What We Already Know

For years, the NHS has warned that ageing and excess weight increase the risk of developing Type 2 diabetes. However, this new study goes beyond traditional measures, proposing that the shape of the gluteus maximus itself shifts as people age or develop conditions such as osteoporosis or diabetes. These subtle muscular changes could provide valuable information about a person’s metabolic health.

Why the Gluteus Maximus Matters

Researchers from the University of Westminster highlighted that the gluteus maximus plays a key role not just in movement but also in metabolic regulation. Healthy, well-maintained muscles can improve blood sugar control and reduce the burden on organs involved in glucose processing.

Dr Marjola Thanaj, co-author of the study from the university’s Research Centre for Optimal Health, explained, as reported by Independent: “People with higher fitness, as measured by vigorous physical activity and hand grip strength, had a greater gluteus maximus shape, while ageing, frailty and long sitting times were linked to muscle thinning.”

Mapping the Muscle

To understand these differences, researchers used advanced MRI 3D mapping to create a detailed anatomical model of the gluteus maximus. By analyzing more than 61,000 MRI scans from the UK Biobank database, they discovered that the shape, not the size, of the muscle varied significantly between individuals with diabetes and those without it.

What the Study Found

The MRI analysis revealed distinct, sex-specific patterns linked to Type 2 diabetes. Among male participants living with the disease, those classified as “frail” showed widespread muscle shrinkage across the gluteus maximus, indicating a loss of muscle quality and strength.

Women with diabetes, on the other hand, had enlarged muscle shapes — not because of increased muscle strength, but because of fat infiltrating the muscle tissue. This type of fat infiltration often signals declining muscle function and poorer metabolic health.

Dr Thanaj said these patterns underline a crucial point: men and women can experience the same illness in very different biological ways, which may influence diagnosis and treatment strategies in the future.

Why Maintaining Muscle Mass Matters

Beyond appearance or strength, muscle health is essential for long-term wellbeing. Maintaining muscle mass supports blood sugar regulation, reduces the risk of cardiovascular disease, and lowers the likelihood of developing fatty liver disease, all conditions closely linked to metabolic health.

Professor Louise Thomas, senior author of the study, told The Times: “Maintaining muscle mass as we age is one of the most important things we can do for our long-term health. If people understand how important their muscles are, and make small changes to keep them healthy, that could have a huge impact on disease across the population.”

Small Steps to Strengthen Your Glutes

Improving glute muscle health doesn’t require intense gym sessions. Simple actions such as taking the stairs instead of the lift, adding squats or lunges to your routine, or breaking up long periods of sitting can help tone and strengthen the gluteus maximus.

Kidney disease is rising at an alarming pace worldwide, and it’s now among the top causes of death. A Lancet study highlights that the number of people living with chronic kidney disease jumped from 78 million in 1990 to nearly 788 million in 2023. That’s a massive tenfold spike, and a reminder that our kidneys need more attention than we realize.

The tricky part? Kidney problems often progress silently. Many people don’t realize anything is wrong until the kidneys are already significantly damaged. That’s why experts strongly emphasize early screening. According to nephrologists like Dr Arjun Sabharwal, a few simple tests — often quick and inexpensive — can help catch kidney issues early and improve treatment outcomes.

Below are the four key tests everyone should know about, especially if you have diabetes, high blood pressure, a family history of kidney disease, or you’re simply trying to stay proactive about your health.

Creatinine Blood Test & eGFR: Your First Kidney Health Check

eGFR uses creatinine values along with age and other factors to estimate how well your kidneys are functioning overall. Doctors often say, “Creatinine is just a number — eGFR tells you how much your kidneys are working.”

An eGFR below normal may be an early signal that your kidneys aren’t filtering efficiently, even if you feel fine.

Cystatin C: A More Accurate Indicator for Some People

Cystatin C is a protein produced naturally by all cells. When kidneys are healthy, its levels stay stable; when the kidneys struggle, the levels rise.

Experts highlight that Cystatin C can be more reliable than creatinine for people with very high muscle mass, those who work out intensely, or individuals taking supplements that may affect creatinine readings. If creatinine results seem unclear or inconsistent, this test adds clarity.

Urine Dipstick Test: Quick and Tells You a Lot

Before kidney function takes a major hit, the body often shows early warnings — one of which is protein leakage in urine. A urine dipstick test is one of the fastest ways to detect this.

A chemically treated strip is dipped into your urine sample, and if proteins like albumin are present, the strip changes color. It’s simple, non-invasive, and helpful for spotting early kidney damage.

Urine Protein-to-Creatinine Ratio (UPCR): How Much Protein Is Leaking

If a dipstick shows abnormalities, the next step is often a UPCR test. This test measures exactly how much protein is leaking into the urine relative to creatinine. Higher levels may signal worsening kidney function or underlying disease. Doctors use UPCR to assess the severity of kidney damage and monitor progress over time.

When to See a Nephrologist

If any test shows rising creatinine, an abnormal eGFR, protein in urine, or blood detected on a dipstick, it’s crucial to book an appointment. Lifestyle tweaks, home remedies, or detox drinks cannot reverse kidney damage. Expert evaluation is essential.

In 2025, thanks to climate change, rapid urbanization, and frequent travels, new viruses, their strains, and infections have spread frequently. Infections have affect millions and some diseases have come back with their new strains, which have been more contagious, whereas other diseases are finding new ways to emerge.

As we look back at the year, which is about to end in just another month, let us look back at the top 5 infectious diseases of 2025.

Respiratory Infections

In 2025, respiratory infections were the most widespread, with new COVID-19 variants emerging every now and then. Along with this common flu too has emerged. This has weakened immunity and made elderly and infants, and people with comorbidities more vulnerable to the diseases.

The new COVID variants in India are linked with the JN.1 variant and its sub-variants like LF.7 and NB.1.8. The COVID variants in the UK which were active were XFG, NB.1.8.1, or known as the Stratus and Nimbus variants. Other variants were XFG.3, XFG.5, and XFG.3.4.1.

Tuberculosis (TB)

Tuberculosis still continues to be a major infectious disease in 2025, especially in countries like India. As per the World Health Organization (WHO), tuberculosis caused 1.25 billion deaths in 2023. It becomes the world's leading infectious disease after COVID-19.

Each day, close to 3,425 people lose their lives to TB, and close to 30,000 people fall ill with this preventable and curable disease. About 10.8 million people got TB in 2023, which include 6 million, 3.6 million women, and 1.3 million children.

Dengue and other mosquito-borne infections

Mosquito-borne diseases like dengue, chikungunya, malaria, and Zika continued to rise in 2025. The reason being changing weather patterns. Dr Sanjeev Bagai, Chairman of Nephron Clinic, and Senior Consultant Pediatrician and Nephrologist points out that earlier the mosquito-borne diseases were seasonal, however, due to rapid urbanization and climate changes, these diseases have stayed all round the year.

Hepatitis Infections

Hepatitis B and Hepatitis C are among the most common Hepatitis infections in 2025. However, there have been outbreaks of Hepatitis A and E in unsafe water and food. Chronic hepatitis can also damage liver and also lead to cancer. It is a concern because it spreads through contaminated food, unsafe water, blood, and sexual contact. While many people may not show symptoms until serious liver damage occurs.

Symptoms also include jaundice, dark urine, fatigue, nausea, and abdominal pain.

Gastrointestinal Infections

Food- and water-borne infections are still common across the world. Illnesses like salmonella, cholera, rotavirus, and norovirus often spread in areas where hygiene, sanitation, and food safety are poorly maintained.

Why are these infections risky?

They can spread extremely fast, especially among children and older adults. Severe diarrhea and vomiting can lead to dangerous dehydration if not treated in time.

What symptoms should you look out for?

Persistent diarrhea, vomiting, stomach cramps, fever, and signs of dehydration. The best prevention is simple: drink clean water, wash hands regularly, and eat properly cooked food.