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.”

Amanda Peet, the Hollywood actress known for roles in Something’s Gotta Give, The Whole Nine Yards, and Jack & Jill, recently opened up about her breast cancer diagnosis and how informing her kids about her health became the toughest part for her.

In a New Yorker essay published March 21, the 54-year-old actress announced how a routine scan in August 2025 showed an unusual ultrasound result. Later, a biopsy detected a tumor that “appeared” small.

The Dirty John star found to be in stage 1 of lobular cancer that is “hormone-receptor-positive” and “HER2-negative,” making her “happier than the pre-diagnosis” stage.

It is because Hormone-receptor-positive and HER2-negative cancer is less aggressive and often easier to treat than more aggressive forms of breast cancer.

However, informing her children, Frances, 19, Molly, 15, and Henry, 11, about the cancer was the toughest part for her, and she had to be in the right mindset before sharing the news with them.

“They've been great,” Peet told E! News.

“I definitely had to get myself together before including them. The hard part was realizing that nothing is certain and there was going to be no perfect time to tell them,” she added.

Peet stated that between her diagnosis, she had also been navigating a series of family health crises — with both of her parents' final months in hospice care.

The Your Friends & Neighbors actress, in her essay, also noted that she would “only need a lumpectomy and radiation,” not a double mastectomy.

Also read: Jane Fallon Diagnosed With Breast Cancer, This Is How She Caught It Early

What is Lobular Cancer?

Invasive Lobular Carcinoma (ILC) the second most common form of breast cancer, representing 5 to 15 percent of breast cancer cases.

Rather than a distinct lump, it can appear as a thickening or "fullness" rather than a tumor.

It is often difficult to detect on mammograms, thus MRI or ultrasound are more effective for detection

It is usually hormone receptor-positive.

Also read: Olivia Munn’s Mom Diagnosed With Breast Cancer After Actor Urges Her To Take Risk Test; What Should You Do If Cancer Runs In Your Family?

What Is Hormone receptor-positive (HR+) and HER2-negative (HER2−) Breast Cancer

HR+ and HER2− breast cancer is the most common subtype and is seen among 60–75 per cent of cases.

It is not two different cancers, but rather specific, defining characteristics of the same cancer type (breast cancer). It grows:

• due to hormones estrogen/progesterone,
• lacks excess HER2 protein,
• it can occur in either or both breasts
• has a better prognosis
• slower growth rate
• often treated with hormone therapy and sometimes chemotherapy.

Why Early Diagnosis Matters for Breast Cancer

According to the Centers for Disease Control and Prevention (CDC), breast cancer screening is a proactive checkup used to find cancer before any physical signs or symptoms appear. While screening doesn’t prevent cancer, its goal is early detection, making the disease much easier to treat.

Since every person’s body and history are different, you and your doctor should engage in informed and shared decision-making. This means discussing the pros and cons to decide together if, and when, screening is right for you.

The US Preventive Services Task Force (a group of national medical experts) provides guidelines based on the latest research:

Average Risk

Women aged 40 to 74 should generally get a mammogram every two years.

High Risk

If you have a family history or other risk factors, your doctor may recommend a different schedule or additional tests.

GLP-1 receptor agonists are a modern class of medicines that have changed the treatment of type 2 diabetes and obesity. In simple terms, they help the body respond to food more smartly. After eating, the intestine naturally sends signals that help regulate sugar and appetite levels.

GLP-1 RA medicines imitate this signal. As a result, blood sugar rises less after meals, appetite becomes more controlled, and many people feel full with smaller amounts of food. This is why these medicines are used not only for diabetes, but also for weight reduction in selected people.

GLP-1 Drugs: Not A Miracle Injection

These medicines are important because their benefits can go beyond sugar control alone. Studies and current diabetes guidelines show that some GLP-1 RAs can reduce body weight, improve long-term sugar levels, and lower the risk of major heart-related problems in people who have type 2 diabetes and high cardiovascular risk.

Recent guidance also supports their use in some people with chronic kidney disease when cardiovascular risk reduction is an important goal. This does not mean every drug in the group is identical, but it means the class has become medically important for more than just lowering sugar.

For the general public, one important point is that these are not “miracle injections.”

They work best when combined with better food choices, regular walking or exercise, good sleep, and medical follow-up. They are usually started slowly because the commonest side effects are stomach-related, such as nausea, vomiting, constipation, loose motions, or a feeling of fullness.

Not everyone is suitable for them, and the decision depends on a person’s diabetes status, weight, heart or kidney disease, other medicines, and cost. Used properly, GLP-1 RAs are powerful tools that can improve health, but they should always be taken under medical supervision.

GLP-1 Drugs: Urgent Need to Curb Misuse

So Indian Medical Association (IMA) is planning to seek a mandate restricting prescriptions of GLP-1 drugs to certified endocrinologists/diabetologists or MD general medicine practitioners to curb indiscriminate use and safeguard patient safety as access expands, many media report in August last year about rampant misuse of GLP1 weight loss drugs by cosmetologists, physiotherapists, dermatologists, general MBBS clinicians, and even ayurveda, and other non-modern medicine practitioners.

Many MBBS, physiotherapists, and non-modern medicine practitioners are prescribing GLP1 drugs to people who neither have diabetes nor any comorbidity or acute obesity, but purely for cosmetic reasons to lose some weight that can be otherwise easily done with some lifestyle changes like exercise and diet.

It is a duty of the government to take care of it because there is a lot of misuse and misprescription that needs to be curbed immediately, because these medicines also have side effects.

We will write to the government to take necessary action to stop the misuse of the drug. We will discuss it in our meeting in the first week of April 2026.

One in four or 25 percent of adults with type-2 diabetes in India also suffer from liver fibrosis, according to an alarming study published in The Lancet Regional Health Southeast Asia journal today.

With data from more than 9,000 patients across the country, it is the largest ever real-world survey of liver fibrosis in type 2 diabetes from any low- or middle-income country.

While fatty liver disease has been touted as the most common liver condition among diabetes patients, the new study established liver fibrosis as the real danger among people with high blood sugar.

“Type 2 diabetes is closely linked to fatty liver disease (also known as MASLD). But how common is liver Fibrosis — the real danger — in Indian diabetics? Our answer: 1 in 4 has clinically significant liver fibrosis. One in 20 already has probable cirrhosis. Most had no symptoms. We propose liver fibrosis as the ‘4th major complication’ of diabetes,” said Ashish Kumar, from Ganga Ram Postgraduate Institute of Medical Education and Research (GRIPMER), from Sir Ganga Ram Hospital, in a post on social media platform X.

Also read: About 84% IT Employees Are Suffering With Fatty Liver Disease - Why Screenings Are Necessary For Corporate Workers

What Did The Study Find?

Fatty liver is typically the first and reversible stage of liver disease, where excess fat builds up in liver cells. Left untreated, it progresses to liver fibrosis, which is the excessive accumulation of scar tissue (collagen) in the liver resulting from chronic inflammation. The condition then progresses to the third and late stage, irreversible scarring (fibrosis) of the liver. The final stage is liver cancer.

The DiaFib-Liver Study included a total of 9,202 adults with type-2 diabetes patients who underwent FibroScan (VCTE) to assess liver fibrosis in routine diabetes care.

Of these:

• 26 percent had clinically significant fibrosis,
• 14 percent had advanced fibrosis,
• 5 percent had probable cirrhosis
• 65 percent had fatty liver disease.

• obesity
• dyslipidaemia
• kidney problems
• diabetes duration ≥10 years.

Fibrosis: The Screening Target

The study suggested the urgent need to integrate fibrosis screening into national diabetes programs.

“One in four adults with type 2 diabetes in India has clinically significant liver fibrosis and one in twenty already has probable cirrhosis, establishing advanced liver disease as a 'fourth major complication' of diabetes,” said the researchers.

“The DiaFibLiver Study calls for: Fibrosis — not steatosis — as the screening target. FibroScan integration into routine diabetes care. Moving beyond ultrasound-based referral,” Jha said.

“We hope this data from India adds to the global conversation on diabetes and liver disease,” he added.

Also read: The Silent Rise of Fatty Liver Disease: How India-Specific Guidelines Can Help

The findings highlight the urgent need to:

• move beyond steatosis
• systematically integrate fibrosis assessment into routine diabetes care,
• deploy non-invasive tools such as vibration-controlled transient elastography (VCTE) in community practice
• define screening strategies,
• evaluate therapeutic interventions.

Everyday Habits That Harm the Liver

Certain lifestyle choices can accelerate liver damage, such as:

Overeating processed or fried foods

High sugar intake (soft drinks, sweets, desserts)

Physical inactivity or prolonged sitting

Ignoring health issues like diabetes or hypertension

Crash dieting or taking unprescribed supplements.

How To Improve Liver Health?

Early screening and detection are key to prevent irreversible stages. Yet liver disease can be prevented with lifestyle changes such as:

• Eating a balanced diet with vegetables, fruits, whole grains, and lean protein
• Engaging in at least 30 minutes of exercise daily
• Staying hydrated to help the liver flush out toxins
• Avoiding alcohol and smoking
• Avoiding self-medication and unnecessary pills
• Getting routine health screenings.