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.”

The NHS will not be automatically inviting all men above a certain age to check for prostate cancer, unlike the approach for some other cancers. The UK National Screening Committee has suggested that the prostate-specific antigen (PSA) test should only be actively offered to men carrying the BRCA gene mutation, which increases their risk. Still, men can request a PSA test from their GP in certain situations.

Olympic cycling hero Sir Chris Hoy, who has received a terminal diagnosis, is among those campaigning for men with known risk factors to be invited for a PSA test at a certain age, even if they do not have any symptoms.

Prostate Cancer Screening: What Is The PSA Test?

A prostate-specific antigen (PSA) test checks the level of PSA in your blood. PSA is a protein produced by the prostate, a small gland in the male reproductive system located just below the bladder. The prostate produces the fluid part of semen.

The NHS says the test might be suggested if you notice symptoms that could point to prostate cancer, such as:

• urinating more often than usual, feeling a sudden urge to pee, or waking up frequently at night to urinate
• blood in your urine
• difficulty getting or maintaining an erection

However, for most men, urinary symptoms are caused by something other than cancer.

A PSA test is usually carried out at a hospital or GP surgery by a nurse or other healthcare professional. Men are asked to avoid certain activities for 48 hours before the test, as these can temporarily raise PSA levels and affect the result. Activities to avoid include anything that leaves you out of breath, like strenuous exercise.

If a man’s PSA level comes back high, they may be offered a repeat test to see if the levels remain raised. If they do, the GP may refer them to a specialist for further investigations, such as a biopsy or an MRI scan.

Prostate Cancer Screening: Why Is The PSA Screening So Controversial?

PSA levels can rise for many reasons, including minor infections, and around 75% of men with a raised PSA do not have prostate cancer. A high reading can lead to referrals for unnecessary biopsies or MRI scans, or treatment for tumours that might never have caused harm.

The PSA test can also miss aggressive cancers. Research has shown that roughly 15% of men with a normal PSA result may actually have prostate cancer.

Prostate Cancer Screening: Who Can Currently Get The PSA Test?

Routine PSA testing is not offered as standard on the NHS. You might be offered a test if a doctor suspects symptoms that could indicate prostate cancer. Men undergoing treatment for a prostate condition may be offered regular PSA checks to monitor how treatment is progressing.

Men aged 50 and over can request a PSA test from their GP, even without symptoms. Campaigners say many men are unaware that they are at higher risk of prostate cancer and should be actively encouraged to think about having a PSA check.

Prostate Cancer Screening: Who Else Could Get It?

If the UK National Screening Committee’s recommendation is approved by the Government next year, men with the BRCA gene mutation could also be invited for a PSA test. Men who think a family member might have had the BRCA gene mutation can request a genetic test on the NHS to find out.

Alzheimer's disease is the most common cause of dementia. As you may know, It is a physical illness that causes the brain to gradually stop functioning correctly, leading to a decline in memory and thinking skills. Alzheimer’s is not just a condition that affects not only memory but also many aspects of daily life, including behavior patterns, routines, and speech.

According to Alzheimer’s Society, the disease is affecting more people than ever: roughly one million people in the UK currently have dementia, a figure expected to rise significantly by 2050.

Catching Alzheimer's early is key to ensuring patients and caregivers receive the right medical care and support. One of the best ways to spot the beginning of mental decline is by noticing changes in how a person uses language and speaks.

5 Speech Clues That May Signal Early Alzheimer's

New speech problems are often one of the first indicators of the disease. Here are five subtle signs to watch out for:

Pauses, Hesitations, and Vagueness

People often have trouble finding the exact word they want to use. This causes them to stop frequently, leading to long pauses and hesitations while speaking. When they can't remember the word, they might use very general words like "thing," or they will try to describe what the forgotten word is, they will describe the forgotten word instead of saying it directly.

Using Incorrect but Related Words

A person might replace the correct word with one that is somehow connected to it. For instance, if they mean to say "fork," they might mistakenly say "spoon" because both are common eating tools. In the very early stages, they might use a general category word, like saying "animal" instead of the specific word, "cat."

Talking About a Task Instead of Doing It

When someone needs to start a task, they may struggle to begin or complete it. Instead of discussing the actual steps needed, they talk about their feelings. They might say, "I used to be able to do this easily," or "I don't think I can manage it now," showing worry or doubt instead of focusing on the job at hand.

Less Word Variety

The person's language starts to sound much simpler and less colourful. They tend to stick to basic, common words and may repeat the same verbs and adjectives over and over again. They also use connecting words like "the," "and," or "but" very often to link their basic sentences, making their speech sound repetitive.

Trouble Finding Words in Groups (Categorization)

It becomes difficult for them to quickly name things that belong to a specific category. For example, if asked to name five types of food, different parts of the body, or words starting with the letter 'P,' they struggle. This challenge becomes noticeably harder and more frustrating as the disease progresses.

Why Early Detection Matters

While everyone forgets a word now and then, Persistent and worsening problems with memory, fluency, and varied language could be an early sign of Alzheimer's.

Age is the biggest factor for Alzheimer's risk, with the chance doubling every five years after age 65. However, the disease can affect people under 65 (early-onset Alzheimer's). Spotting these speech changes early is especially crucial for people who are already at a higher risk, such as those with Down Syndrome.

Usually, when your muscle hurts, it's just from working out too hard, pulling a muscle, or getting a bruise. The pain is normal and goes away after a while. However, the National Health Service (NHS) wants people to know that some types of muscle pain are not normal and could be a medical emergency.

Muscle cramps and pain are considered normal; you may have hurt your leg by a fall, stretched your muscles wrong etc. However, not all pain is harmless and it can lead to more serious consequences. Here is how you identify whether your muscle pain is in dangerous territory or not.

Signs You Should See A Doctor Immediately

NHS explains that one should get help right away if your muscle pain feels like:

• A "burning pain" (like something hot is inside your leg or arm).
• A "deep ache" that feels very intense and goes deep into the muscle.

It's a major red flag if this pain gets much worse when you try to move the sore body part. If you have these symptoms, doctors worry it could be a serious problem called Compartment Syndrome.

What is Compartment Syndrome?

The strong, thin layer of tissue which holds your muscles is called fascia. A compartment is just one of these tight bundles of muscle, blood vessels, and nerves.

Compartment syndrome happens when something causes a lot of swelling or bleeding inside that bundle. Because the fascia around the muscle doesn't stretch easily, the pressure inside the compartment goes up very fast.

This high pressure squeezes the blood vessels and nerves, stopping blood from flowing properly. When blood can't get in to bring oxygen or out to remove waste, the muscle tissue starts to die. That's what causes the severe pain.

What Are The Symptoms of Compartment Syndrome?

It's important to watch out for these symptoms, especially if they follow an injury or intense activity:

Intense Pain: The pain is severe, much worse than normal soreness. It might feel like a deep, burning ache inside the muscle.

Worse with Movement: If you try to move the sore arm or leg, the pain gets instantly and much worse.

Swelling: The muscle might look puffy, or it might feel rock-hard or tight to the touch.

Odd Sensations: You might feel numbness, a pins-and-needles feeling, or feel weak in your hand or foot.

Tightness: The area feels so tight you have trouble moving it normally.

How is Compartment Syndrome Treated?

If the problem is sudden and severe (Acute Compartment Syndrome), it is an emergency, and doctors must act right away.

The Surgery (Fasciotomy)

The surgeon makes a long cut through the tough skin (the muscle cover) that is squeezing the muscle. This immediately releases the pressure, allowing blood to flow normally again to the muscle and nerves.

Recovery

Afterward, you'll need pain medication, and sometimes a skin graft (taking skin from another part of your body) to cover the large wound. You will also need physiotherapy to help the muscle get back its full movement and strength. Since the pain here is linked to exercise, treatment usually starts with changes to your routine:

• Stop activities that trigger the pain. For example, if running hurts, try riding a bike or swimming instead.
• Use anti-inflammatory medicines (like ibuprofen) to ease the discomfort.
• A physical therapist will teach you special stretches and strengthening moves.
• If you run, wearing special shoe inserts might help.
• If these easy changes don't work after a few months, your doctor might then suggest a small surgery.