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.”

A new social media trend is prompting people to look more closely at their skin, lips, eyes, hair and nails for possible signs of iron deficiency.

The trend, being referred to as “ferritin face,” centers on an appearance that people describe as looking unusually tired — including dull or dry skin, pale conjunctiva, cracked lips, dark circles under the eyes, and brittle hair and nails.

What Is ‘Ferritin Face’?

“Ferritin face” is not a medical term. Ferritin is a protein that stores and releases iron in the body.

Social media users are increasingly sharing photos of changes in their appearance and linking them to low ferritin or iron deficiency. Some are also encouraging others to get their ferritin levels tested.

“Shout out to the person who commented on one of my videos ... ‘you should get your ferritin levels checked because your lips are very pale,’” one woman said in a TikTok video. “It turns out there’s a reason for why I look so tired and crappy all the time.”

Also read: Bryan Johnson's Autoimmune Gastritis Sheds Light On Iron Deficiency In Americans

Can Iron Deficiency Affect Your Appearance?

Although there is no standard medical definition of “ferritin face,” low iron levels can coincide with visible changes in the face and other parts of the body.

“While the catchy name is a social media invention, the idea that depleted iron can affect how someone looks is medically valid,” Anna Komorowski, division chief of hematology and medical oncology at Northwell's Northern Westchester Hospital in Mount Kisco, New York, was quoted as saying to MedPage Today.

“Importantly, these changes typically occur when deficiency has progressed significantly, not from mildly suboptimal levels.”

Why Iron Deficiency Can Be Missed

Iron deficiency is common, affecting nearly a third of adults in the United States. But it can be difficult to recognize because symptoms may be vague and develop gradually. Iron levels are also not routinely checked.

According to research published in JAMA Network Open, about one in four Americans may have inadequate iron intake or absorption. In the study of more than 8,000 Americans, 14 per cent of adults had absolute iron deficiency, reflecting depleted iron stores.

Even after excluding common causes such as anemia, pregnancy, heart failure and chronic kidney disease, 11 per cent remained iron deficient. Another 15 per cent had functional iron deficiency, where iron levels appear normal but the body cannot use the mineral effectively.

“Because some patients may be iron-deficient without being anemic, they may go on for a very long time without being diagnosed,” Imo Akpan, a hematologist at NewYork-Presbyterian and associate professor of medicine at Columbia University Irving Medical Center, was quoted as saying to the Washington Post.

What Are The Common Signs Of Iron Deficiency?

Iron deficiency can cause a range of symptoms, including:

• Constant tiredness
• Weakness
• Pale skin
• Shortness of breath
• Dizziness
• Headaches
• Hair loss
• Difficulty concentrating
• Frequent infections
• Under-eye circles,
• Cracks at the corners of the mouth,
• Brittle or slower-growing nails
• Exercise intolerance,
• Cold hands and feet,
• Brain fog
• Cravings for non-food items such as ice, soap or chalk.

How Is Iron Deficiency Diagnosed?

Iron deficiency can be assessed with blood tests, including a ferritin test, which measures the body's stored iron. Ferritin levels below 30 nanograms per millilitre can indicate iron deficiency.

How Is Iron Deficiency Managed?

Management depends on the underlying cause and the severity of the deficiency. It can include improving dietary iron intake and taking iron supplements when advised by a healthcare professional.

Iron-rich foods include spinach, beans, lentils, nuts and dates. Vitamin C-rich foods, such as oranges and lemons, can also be included in the diet.

When discussing patient safety in chronic disease management, conversations often focus on drug safety profiles, accurate dosing, and acute complication prevention. In long-term conditions like diabetes, which affects over 100 million people in India, patient safety extends far beyond the medicine. It lies at the intersection of patient education, reliable delivery systems, continuous monitoring, and structured medical guidance.

For instance, the recent evolution in diabetes therapies, such as the shift from 365 daily basal insulin injections a year to just 52 once-weekly administrations, marks a major turning point in chronic care. Reducing injection frequency addresses therapeutic fatigue and needle anxiety, factors that have historically delayed necessary insulin initiation by several years in India. As advanced delivery systems make administration simpler, ensuring that the patient continues long-term treatment is a key requirement for chronic care.

This is where a comprehensive system becomes critical. An advanced delivery device or once-weekly formulation is an enabler. As an intuitive delivery system, it offers accurate dosing and convenience, but cannot interpret fluctuating blood glucose trends, adjust for lifestyle changes, or recognize early warning signs of hypoglycaemia on its own. Long-term patient safety views advanced delivery as an integral link of a broader patient-care framework, which includes:

Also read: Ozempic, Wegovy & PMOS: How GLP-1 Drugs Are Changing PMOS Treatment?

Education as the primary step

Patient safety begins with health literacy. Understanding dose titration, storage conditions, hypoglycaemia protocols, and blood glucose monitoring transforms a patient from a passive recipient into an empowered manager of their health.

Reliability in delivery

Delivery mechanisms, whether daily smart pens or weekly formulations, must deliver predictable, mechanical accuracy. Reliable delivery builds patient confidence, minimizes dosing errors, and alleviates administration anxiety.

Continuous follow-ups

Diabetes is a progressive, dynamic condition. While delivery devices ensure precise administration, continuous engagement with healthcare professionals ensures that treatment regimens adapt to ageing, comorbidities, and lifestyle changes over time. In many cases, technology evolves in response to the pain points shared by the patient.

As the world marks World Patient Safety Day, the focus must expand beyond modernizing treatment delivery to strengthening the entire system surrounding the patient. Innovations in drug delivery are major milestones, but their real-world safety and effectiveness depend entirely on the educational and clinical scaffolding supporting them.

Grounding modern delivery solutions in patient education and clinical continuity creates a model where diabetes care is not only less burdensome, but safe for a lifetime.

Heart disease is now the leading cause of death among Hispanic adults in the US, overtaking cancer, according to a new report from the American Heart Association (AHA).

The report, published in Circulation, says that several cardiovascular risk factors are appearing at younger ages among Hispanic adults, setting the stage for heart disease and stroke earlier in life.

But the AHA says there is no single explanation, or even a single “Hispanic” health profile. Risk varies substantially among Mexican, Puerto Rican, Cuban, Dominican, Central American and South American communities, as well as between people born in the US and those born elsewhere.

Diabetes, Obesity And High BP Showing Up Earlier

The report identifies obesity, Type 2 diabetes and high blood pressure as major contributors to cardiovascular risk.

Nearly 46% of Hispanic adults have obesity, while Type 2 diabetes affects about 15.5%, almost twice the prevalence seen among non-Hispanic White adults. Around 44% have high blood pressure, but awareness, treatment and control remain lower than they should be.

These disorders can damage blood vessels over time. High blood pressure places continuous stress on artery walls. Diabetes can damage blood vessels and nerves and accelerate atherosclerosis, while excess body weight is linked to both hypertension and metabolic disease.

The consequences can appear earlier than expected. Hispanic adults are diagnosed with heart failure around 8 to 9 years earlier than White adults, while their first stroke occurs, on average, 6 to 8 years earlier.

Also read: Cefepime: Antibiotic Used For Pneumonia, UTI Linked To Higher Death Risk In Adults

It Is Not Just About Lifestyle

The AHA report says that cardiovascular disparities cannot be explained simply by individual choices. “Many Hispanic adults face obstacles that extend far beyond the doctor's office,” said Johanna Contreras, MD, MSc, FAHA, chair of the scientific statement's writing group.

“A person's ZIP code, access to healthy foods, ability to communicate with health care providers and opportunities to be physically active can be just as important to heart health as traditional medical risk factors.”

Access to preventive care also plays a key role. While high blood pressure rates are similar to those among non-Hispanic White adults, Hispanic adults are less likely to have their hypertension diagnosed, treated or controlled.

Also read: Eating 4–6 Servings of Whole Grains Daily May Lower Heart Disease Risk

Sleep, Diet And Physical Activity Add To The Risk

Nearly one-third of Hispanic adults report getting less than seven hours of sleep, while around one-third report no moderate-to-vigorous leisure-time physical activity. Dietary quality is another concern, with very few meeting recommended targets for sodium and healthy-fat intake.

Obesity affects almost half of Hispanic adults, with particularly high rates among people of Puerto Rican and Dominican heritage.

Type 2 diabetes is most prevalent among Mexican and Puerto Rican adults, while hypertension is particularly common among Puerto Rican, Cuban and Dominican populations.

Risk factors, healthcare access, language, income, cultural practices and immigration experiences can differ significantly between Hispanic communities.

The AHA is therefore calling for culturally tailored prevention, better representation of Hispanic people in cardiovascular research and more detailed health data that does not treat all Hispanic populations as one group.

When it comes to high blood pressure, blood sugar, cholesterol, weight, physical activity, diet and sleep, it is important to act early for prevention. AHA says prevention may need to begin earlier in life, rather than waiting for cardiovascular diseases.