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.”

Screening for all men is "likely to cause more harm than good", says the UK National Committee. This recommendation is based on a clinical trial called Transform, which is now filling gaps in the evidence on how screening could be safely rolled out to other groups.

As of now, as per the recommendation, men who are between the ages of 45 and 61 should be screened every two years, if they have specific genetic mutations called BRCA variants.

The UK National Screening Committee recommends:

• No screening for black men due to "uncertainties" around the impact due to a lack of clinical trials in black men
• No screening based on family history

Why Is The New Recommendation Asking People To Not Get Screened For Prostrate Cancer?

As per the clinical study and the Cancer Research UK, of the 1000 men who get screened between the age of 50 to 60 for PSA test or the prostate-specific antigen test, around 100 have a positive PSA test. Of them, 34 have a positive MRI and receive a biopsy. Then only 28 are diagnosed with prostrate cancer. Of those 28, 10 are offered active surveillance, 13 are offered surgery or radiotherapy, and 4 need surgery or radiotherapy, while 1 need any other treatment.

However, the Cancer Research UK notes that while 1000 men are screening, and 28 diagnosed, only 2 lives could be saved, with 20 being over diagnosed, this means they have a slow-growing tumor that does not need treating, and of them 12 men will receive treatments that do not benefit them, rather harms them. These harms come in forms like being unable to control your bladder, or maintain an erection.

Is Prostrate Cancer Screening Recommendation Fit For All?

While experts say it is, patients are disappointed. Sir Chris Hoy, a terminal prostrate cancer patient says he was "disappointed and saddened" by the new recommendations as BBC reports.

However, Prof Freddie Hamdy, who is a urological surgeon in Oxford tells BBC: "The diagnosis of prostrate cancer in a healthy man is hugely disruptive event, with potential to affect quality of life, very significantly, for many years."

"It cannot be done lightly, men need to be really well counselled and informed before the 'snowball' starts. Before you know it, you are on the operating table having your prostate removed – and we see examples of that all the time," he said.

The screening committee’s decision is not final. It marks the beginning of a three-month public consultation period, after which the committee will reconvene and present its final recommendations to ministers in England, Wales, Scotland, and Northern Ireland. Each nation will then make its own decision on prostate screening.

England’s Health Secretary Wes Streeting said he supports screening “if backed by evidence” and promised to review the data “thoroughly” ahead of the final guidance expected in March.

Reactions to the draft recommendations have been sharply divided. Cancer Research UK welcomed the consideration of screening for men with faulty BRCA genes and agreed that, for most men, screening could currently do more harm than good.

But others strongly disagreed. Sir Chris Hoy said he was “extremely disappointed and saddened,” calling the BRCA-specific recommendation “a very small step forward” that falls short. Sharing his own experience, he emphasised that “early screening and diagnosis saves lives.”

Prostate Cancer UK CEO Laura Kerby also expressed being “deeply disappointed,” saying the decision will “come as a blow” to tens of thousands of men.

Prostate Cancer Research criticized the move as “a serious error that ignores modern evidence,” calling it a missed opportunity for Black men and those with a family history.

Many people struggle to fall asleep because their minds race with worries about the next day or even old memories. To stop this mental chatter, some try complicated breathing exercises or relaxation hacks. However, a simple neuroscience trick involving temperature might help you drift off instantly.

Neuroscientist Kyle Cox suggests that you can fall asleep in seconds simply by placing something cold on your forehead when you go to bed. He explains that this method has been backed by sleep clinics and can be highly effective.

Sleep Hack That Could Help You Sleep Quicker

Researchers have learned that the temperature right on your forehead controls whether your brain stays active or decides to rest.

When the front part of your brain, called the frontal lobe, gets cooled down by even a little bit, just one degree, it automatically tells your body to start producing the chemicals needed for sleep.

The cold also quickly slows down all that busy mental chatter because the part of your brain that handles thinking (the prefrontal cortex) literally cannot work as hard when it is being cooled down.

A 2018 study published in the Sleep Journal also found similar results through a device that that cooled the forehead temperature as a treatment for insomnia. The device improved things like the time it took to fall asleep compared to the patient's own baseline sleep and the time it took to enter different stages of light and deep sleep (NREM Stages 1 and 2).

The two-night treatment helped patients fall asleep faster according to most PSG measurements and was safe. The researchers recommend more studies to see if this treatment works for the longer-term management of insomnia.

General Tips for Treating Insomnia

If you struggle with sleep, the NHS (National Health Service) says that often the best cure is to change your daily sleep habits. If you stick to a healthier routine, your insomnia usually gets much better over time.

Keep a Schedule

Go to bed and set your alarm to wake up at the exact same time every day, even on weekends. This helps set your body's internal clock.

Wind Down

Start relaxing at least one hour before you plan to sleep. This could mean taking a warm bath, listening to calm music, or reading a physical book.

Optimize Your Room

Make your bedroom a perfect place for sleeping. It should be as dark and quiet as possible. Use heavy curtains, blinds, or even an eye mask and earplugs if needed.

Get Moving

Exercise is great for sleep, but do it regularly during the day, not right before bed.

Be Comfortable

Check that your mattress, pillows, and blankets are supportive and cozy so you can easily relax once you lie down.

Things You Should Avoid For Better Sleep

To sleep better, avoid things that keep you awake. Stop smoking, drinking caffeine or alcohol six hours before bed. Do not eat a large meal or exercise intensely late at night. Avoid screens right before bed, limit daytime naps, and always stick to your regular morning wake-up time.

Researchers have recently found that looking closely at the shape of the main buttock muscle, called the gluteus maximus, gives important clues about a person's health. This muscle shape reflects key changes linked to how we age, our lifestyle choices, and medical problems like diabetes.

This new study, done by a team at the University of Westminster, is unique because, unlike older research that only measured how big the muscle was, the team used advanced 3D mapping to show exactly where and how the muscle shape was changing.

These shifts, either the muscle shrinking (atrophy) or becoming inflamed, are connected to things like being frail, the amount of time someone sits each day, fat storage and diabetes risk.

How Do Muscle Changes Indicate Diabetes Risk?

the research analysed a large dataset, looking at over 61,000 MRI scans taken from the large U.K. Biobank health database.

Along with the MRI images, the dataset also included detailed information on 86 different factors for each person, including their medical history, body measurements, and what kind of lifestyle they led.

By putting all this data together, the team was able to figure out which specific factors were strongly linked to changes in the shape of the buttock muscle over time.

The analysis revealed strong connections between muscle shape and certain health factors:

Fitness

People who were considered fitter, meaning they reported doing more vigorous physical activity and had a stronger hand grip, tended to have a greater gluteus maximus shape. This often means the muscle was larger and more defined.

Aging and Frailty

On the other hand, factors like getting older, being generally frail (weak), and spending many hours sitting were all linked to muscle thinning or shrinkage. This suggests that a lack of use and the natural process of aging reduce the muscle's size and fullness.

How Gender Affects Muscle Responses

A very important discovery was that the gluteal muscles don't change in the same way for men and women, especially when they are dealing with a disease. For example, men who were considered frail showed more shrinkage (thinning) in their gluteus maximus compared to women who were also frail.

When the researchers examined Type 2 diabetes, the difference was even more noticeable: diabetic men showed clear muscle thinning (reduced muscle mass), while diabetic women often showed enlarged muscle mass.

This larger appearance in women is likely due to fat building up within the muscle tissue, rather than the muscle itself growing stronger. These differences strongly suggest that the body's biological response to diseases like Type 2 diabetes may be completely different between men and women.

What Does Your Glute Shape Reveal About Health??

The researchers conclude that the shape of the buttocks, rather than simply its size, is more closely connected to fundamental metabolic changes happening in the body. Because the gluteus maximus is one of the largest muscles in the body, its health plays a crucial role in overall metabolic health.

These findings suggest that tracking gluteal muscle shape could potentially become a new way to monitor metabolic health and disease risk.