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.”

According to the Indian Council of Medical Research - National Cancer Registry Programme (ICMR-NCRP), India reports about 220,000 new cases every year, and the common treatment procedure for this disease is chemotherapy, which comes with profound fatigue, hair loss, nausea, compromised immunity, and nerve damage.

The University College London led the Optima trial, which studied over 4000 patients with the disease in different parts of the world, and a low score on the genomic test could be mediated with only hormone therapy.

The trial’s chief investigator and a professor of breast oncology at UCL, Professor Rob Stein, explains that the study used tumour biology to guide decisions instead of relying on traditional clinical procedures.

The research had 4,429 women participants above the age of 40 years with hormone-positive breast cancer. These patients were then divided into two groups based on the genomic test results by the researchers, and one group with a higher risk was given chemotherapy along with hormone therapy, while the others were only treated with hormone therapy.

What Is Breast Cancer?

Breast cancer refers to the uncontrolled growth of the cells that are found along the inner lining of breast tissue. This out-of-control growth of cells leads to the formation of tumours. The tumour can be “invasive”, meaning that it spreads to the nearby tissues outside the breast, or “in situ”, where the tumour does not spread outside the breast region.

Usually, the “in situ” type of tumour is non-cancerous and non-life-threatening. However, in the case of invasive tumours, the cancerous cell mass can spread to the lymph nodes and further metastasise, that is, spread to other body parts. About 80% times the breast cancer cases are invasive. Hence, upon noticing symptoms like lumps, changes in breast shape, or abnormal nipple discharge, you must promptly consult a doctor.

While both men and women can develop it, in 99% of cases of breast cancer, women are seen to be affected by it. Only 0.5 to 1% of men are affected due to this condition. Furthermore, the condition is mostly prevalent in women aged 50 or older.

After the advent of Ozempic-like drugs, the treatment of obesity has completely changed. Millions of people throughout the world use the medication either for obesity or diabetes. Although there were always concerns among medical professionals that the medication not only reduces fat but also lean muscle, which in turn leads to health loss, as muscle is very important to long-term health.

Now, a new study presented at the European Atherosclerosis Society (EAS) Congress 2026 claims that this vital minus point of the drug, causing lean fat loss, can be mended by pairing it with exercise. The study suggests that combining the drug with exercise can lead to better fat loss, while the muscle will also stay protected. Though the study was done on animals, further research on humans is required.

The researchers studied mice with obesity, insulin resistance, fatty liver disease, and atherosclerosis. The animals were divided into groups and given semaglutide. After 14 weeks, it was found that the drug alone reduced fat by 31 percent but also caused muscle loss, while when the medication was given with exercise, it caused fat loss by 45 percent, and lean mass loss was minimal.

How Does Ozempic Function?

The first thing to remember here is that Ozempic is a brand-name medicine that contains semaglutide as its active ingredient. Semglutide is the synthetic version of GLP-1, a natural hormone produced in the intestines that regulates blood sugar, appetite, and digestion. Now, every time you eat, your body produces various hormones, including GLP-1. These are called post-nutrition hormones and help you absorb the energy you just consumed.

GLP-1 travels to your pancreas, prompting it to produce insulin. It also travels to the hypothalamus in your brain, which gives you the feeling of being full or satiated. Ozempic imitates this hormone, thereby silencing the food chatter in the brain. Interestingly, for some people this food chatter is really quiet ( people with low appetite), and for others it is an outburst (people who generally binge eat). So with Ozempic, silencing this self-talk in the brain, people tend to lose their appetite and eventually weight.

However, it is important to note that losing weight includes not just fat but muscle as well. Losing too much muscle can lead to reduced strength and a shorter life span. Notably, records show that most people who start taking them stop them at 12 weeks; therefore, it is important for some but not for others.

Ice cream is a sweet and delicious dessert loved and enjoyed by millions every day, and summers without this soothing treat are unimaginable, but some get a sharp stabbing pain after they have it. This headache is brain freeze, and it can reveal a lot about your health condition.

Amaal Starling, a neurologist at the Mayo Clinic in Minnesota, in the US, says, "Ice cream headache is very, very common." She added, "It's harmless, it comes, and it goes."

What Is Brain Freeze?

Scientists refer to brain freeze or ice cream headache as a cold-stimulus headache. According to the researchers, the reason for this condition is "rapid cooling at the roof of the mouth, or even in the very back of the throat". This cooling causes the blood vessels to shrink quickly after they return to their normal state. Which is the source of pain?

Why Do Some People Get These Ice Cream Headaches?

The research indicates that brain freeze seems to run in families. Though it also gets affected by your non-ice cream headaches, as people with migraines tend to feel far worse pain in brain freeze than others.

What Are The Common Headaches?

Stress Headaches

Stress headaches, also known as tension headaches, usually feel like a tight band squeezing your head. They are commonly caused by long working hours, lack of sleep, dehydration, or anxiety. However, these headaches generally go away with simple fixes, like rest, water, and relaxation techniques like yoga or meditation.

Migraines

Migraines often cause throbbing pain on one side of the head, along with nausea, vomiting, or sensitivity to light and sound. Some people also experience visual disturbances known as ‘auras’, flashes of light or zigzag patterns, before the headache even begins. They can last for hours or even days and may seriously impact the quality of life. Unlike stress headaches, migraines often need specific medication and lifestyle management.

When Do Headaches Mean Something More Serious?

Not every headache is about stress or migraines. Sometimes, a headache is a warning siren for something far more dangerous. Headaches can also indicate conditions such as high blood pressure, brain infections, stroke, or tumours. The red flags to look out for include:

• Sudden, severe headache (often described as the ‘worst headache of your life’)
• Headaches with vomiting, vision loss, or confusion
• Headaches after a head injury
• Headaches that worsen over time
• Headaches linked with fever or neck stiffness