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 sudden bone fracture that seems out of proportion to the injury could sometimes signal an underlying life-threatening condition. Doctors say that while most fractures are caused by accidents or age-related bone weakness, certain cancers can damage bones and make them fragile enough to break with minimal force.

While this is still relatively uncommon compared to injuries or diseases such as osteoporosis, experts stress that unusual fractures should not be ignored.

How Cancer Can Weaken Bones

Bones are living tissues that constantly rebuild and repair themselves however, some cancers can start directly in the bone which are known as primary bone cancers., such as osteosarcoma, Ewing’s sarcoma, and chondrosarcoma. These cancers damage bone structure and make it fragile.

However, more often the problem comes from cancers that begin in other organs and then spread to the bones, also known as metastasis, which means cancer cells travel from their original location to another part of the body.

According to Dr Rakesh Kr Agrawal, Senior Consultant and Head of Radiation Oncology at Andromeda Cancer Hospital in Sonipat, cancers such as breast, prostate, lung, kidney, and thyroid frequently spread to bones. The spine, pelvis, ribs, and thigh bones are particularly common sites.

When cancer spreads to these areas, it can destroy bone tissue or create weak spots, increasing the chance of fractures.

Blood Cancer And Bone Damage

Bone marrow is the soft tissue inside bones where blood cells are produced. In multiple myeloma, abnormal plasma cells grow uncontrollably and interfere with normal bone rebuilding.

This often leads to lytic lesions, which are small areas where bone tissue has been destroyed. These weak spots can cause bones to break easily, sometimes without any obvious injury.

Doctors estimate that up to 80 percent of people with multiple myeloma already have fractures or severe bone damage when the disease is first diagnosed.

Warning Signs To Watch For

Apart from the type of cancer, doctors also say the context of a fracture matters. A break after a serious fall is usually straightforward but certain patterns may raise concern.

One major warning sign is a fracture after minimal trauma. This means a bone breaks even though the force involved was very small, such as stepping awkwardly or lifting something light.

Persistent bone pain is another signal. Pain that lasts for weeks, becomes worse at night, or appears before a fracture occurs may suggest that the bone was already weakened.

Swelling around the bone or a lump near the fracture site should also be evaluated carefully. These signs may indicate that the bone had an abnormal growth or tumor before the damage.

Doctors also look for systemic symptoms, which are symptoms affecting the whole body rather than just one area. These may include unexplained weight loss, fatigue, anemia, frequent infections, nausea or constipation.

Why Early Investigation Matters

Experts emphasize that most fractures are still caused by common conditions like osteoporosis or accidental injuries. Cancer is a much rarer explanation.

However, when something about a fracture seems unusual, doctors may recommend additional tests. These can include imaging scans such as X-rays, CT scans, or MRI scans to examine the bone more closely. Blood tests or specialised panels may also be done to look for conditions like multiple myeloma.

Early detection is important because many cancers can be treated more effectively when diagnosed sooner. Doctors advise adults, particularly those in middle age or older, to seek medical advice if a fracture happens with very little force or is accompanied by persistent pain or swelling.

In many cases the explanation will still be something simple like bone thinning. But identifying rare causes early can make a significant difference in treatment and recovery.

As specialists point out, paying attention to unusual symptoms and seeking timely evaluation is often the first step toward protecting long-term health.

Blood sugar spikes are dangerous as it could trigger inflammation, oxidative stress, and damage blood vessel linings. The most dangerous, risk of type 2 diabetes, cardiovascular diseases and cognitive decline. When people think of blood sugar spikes, they think of food, carbohydrates or sugary food items that should be avoided. However, there are other things too that are not food, but could spike your blood sugar.

NHS doctor, Dr Amir Khan, who is a general physician with NHS England, resident doctor on ITV's Lorraine and Good Morning Britain, and host of the No Appointment Necessary podcast on his Instagram channel highlighted five non-food related reasons that could spike your blood sugar.

"Did you know your blood sugar can spike even if you haven't had a single bite to eat?" He starts his video with this disclaimer and goes on to say, "Let me share five surprising things that can raise your blood sugar and why it might not always be a bad thing."

Five Reasons Beyond Food That Could Spike Your Blood Sugar Levels

Stress

Dr Khan shares that stress triggers a rise in cortisol levels that activates the body's fight-or-flight response. This signals the liver to release stored glucose into the bloodstream to provide a quick boost of energy. This thus leads to a surge of glucose in blood and leads to the rise of blood sugar levels.

"When you're stressed, your body releases cortisol, the fight or flight hormone that tells your liver to release stored glucose to give you energy. Great if you're running from a tiger, less helpful if you're just stuck in traffic. Remember, chronic stress equals chronic glucose spikes and that is not good for long-term health,” he explains.

Poor Sleep

He also highlighted that even a single night of poor sleep could increase insulin resistance, which means glucose stays in the bloodstream for longer duration and could lead to elevated blood sugar levels. He said that chronic sleep deprivation could raise the risk of developing type 2 diabetes even in people who try to maintain otherwise a healthy diet.

"One bad night, your body becomes more insulin resistant. That means glucose hangs around in the blood for longer and over time, poor sleep can increase your risk of type 2 diabetes, even if you try your best to eat well," he says.

Exercise

To many people's shock, he says exercise could temporarily spike blood sugar. "Number three, exercise. Yes, even the good stuff. Certain types of exercises, especially intense or resistance training, can temporarily raise your blood sugars. Why? Well, again, it's your body releasing glucose for fuel, but really importantly, long-term, exercise improves insulin sensitivity, meaning lower blood sugars overall. So, this is not a bad spike,” he explains.

However, he does point out that it is not a bad thing. He notes that certain forms of physical activity, especially intense or resistance training could prompt the body to release more glucose in bloodstream to fuel the muscles. However, he also points out that regular exercise improves insulin sensitivity over time and helps the body regulate sugar more effectively.

Infections And Illnesses

“When you're fighting off a bug, your immune system has to ramp up, and that comes with a glucose surge. It's your body's way of fueling the immune response. People living with diabetes often notice higher blood sugar levels when they're unwell. That's totally normal and they may have to adjust their medication accordingly,” explains Dr Khan.

What this means is that when your body is fighting off infection, it releases more glucose in your bloodstream that works as a fuel for your immune system. This is why people with diabetes often notice higher blood sugar when they are unwell. However, he points out that this is body's normal response to combat illness.

Hormones

"Ladies, this one's for you because it's mainly around your periods or the menopause. In the second half of your menstrual cycle, that's the luteal phase, progesterone levels rise. This can make your cells more insulin resistant, meaning higher blood sugars. And of course, in perimenopause and the menopause, estrogen levels decline, and that comes with insulin sensitivity dropping. So you become more resistant to insulin, leading to more frequent spikes in blood sugar. That's why women in their 40s and 50s may notice weight gain, fatigue, or brain fog which can be linked to blood sugar shifts.”

Dr Khan notes that hormonal fluctuations during different phases of menstrual cycle could also influence blood sugar levels. Higher progesterone during luteal phase could make cells more insulin resistant. When estrogen is declining during perimenopause or menopause, it could further reduce insulin sensitivity.

Dr Khan concludes, “So remember, not all blood sugar spikes are bad. Context matters. But if you're seeing high readings and you're not sure why, it's always worth talking to your doctor and it’s not always about what you're eating.”

Note: This article is based on content available in public knowledge. Health and Me does not promote any user-generated content being as a substitute for medically verified information or prescription.

Lights will guide you home, but will it treat your mental illness? It could. According to new findings, changing the color of light could help treat mental illness. A psychiatric unit in Trondheim, Norway is testing how light could be used as a potential treatment for mental health conditions like psychosis and depression. The approach is simple, yet innovative that aims on changing the ward's design to help patients in their recovery. As night falls, filters are lowered over windows and lights are changed. This creates a soothing ambiance and eliminates the blue wavelengths that could disrupt body's internal clock.

Also Read: Meningitis Outbreak: University of Kent Student Among Two Who Died of the ‘Invasive’ Disease

The findings have been published in PLOS Medicine, that looked on the patients who were treated in the circadian-adapted ward. The study showed that these patients showed greater clinical improvement and less aggressive behavior. "Just by changing the light spectrum, we can improve the quality of treatment," said Havard Kallestad, a researcher at St Olavs hospital who led the study.

Has This Approach Been Used In Other Areas Of Healthcare?

Researchers are now looking at its use for other healthcare areas, which means beyond the psychiatric wards. The UK's National Institute of Health and Care Research (NIHR) has also called for trials to see if this could "reset" the internal clocks of people who are living in care homes to reduce their behavioral disturbances, especially in dementia patients.

Professor Anthony Gordon of the NIHR said that it was about determining if light therapy could be used to reduce anxiety and improve sleep.

Read: Doctor Explains How Sleep Debt Is Becoming A Crisis In Urban Professionals

How Was The Study Conducted?

The psychiatric unit was divided in two identical halves with the same layout, staffing, and facilities. The key difference between the two was the evening light environment. One of the wards used blue-depleted lighting from 6pm onwards, where blinds and filters blocked similar light from windows and screens.

Whereas the other ward used standard hospital lighting and the unique design allowed researchers to study the impact of different lighting on patient recovery.

What Is Circadian Rhythm And How It Impacts Health?

Circadian rhythm is the body's internal 24-hour clock that regulated the sleep-wake cycle, hormones, digestion, and temperature, which aligns them with day and light. It is primarily controlled by light-sensitive brain cells, or what people commonly call the 'body clock'.

Disruption in the cycle could link to various health issues, which includes mental health problems like depression and cardiovascular diseases. This is why the test in Trondheim could prove beneficial in treating patients across the spectrum of illness.