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.”

Liver cancer rarely announces itself. It creeps in without warning, and by the time symptoms surface, the disease has often progressed to a stage where treatment options shrink, and outcomes worsen. That's why doctors have long called it a "silent killer."

In India, the threat is growing. Rising rates of hepatitis infection, fatty liver disease, and lifestyle-driven risk factors are pushing the numbers up.

Data from the World Health Organization's International Agency for Research on Cancer (IARC) shows more than 40,000 new liver cancer cases reported in India, a figure that underscores a mounting public health challenge. The disease also carries a high mortality rate, largely because most cases surface only once treatment options have narrowed.

This fits into a much larger global picture: WHO's newly released Global Status Report on Cancer 2026 warns that annual cancer cases worldwide could climb from 20.6 million today to nearly 35 million by 2050 without urgent intervention, with infections like hepatitis B and C among the preventable risk factors driving a significant share of the burden.

Why Does Liver Cancer Stay Hidden?

The liver is a workhorse organ, filtering toxins, storing nutrients, and keeping the body running, and it can keep functioning almost normally even after cancer takes hold. That resilience is precisely what makes early detection so difficult. When symptoms do appear, they're vague enough to be mistaken for something else entirely:

• Unexplained weight loss
• Persistent fatigue and weakness
• Upper abdominal pain
• Loss of appetite
• Yellowing of the skin and eyes
• Abdominal swelling

Because these signs surface late, patients often delay seeking care, which is exactly why regular health checkups matter most for high-risk groups, including people with chronic liver disease, hepatitis infection, or fatty liver.

What's Driving the Risk?

Liver cancer doesn't appear overnight; it's the result of years of accumulated damage. Key contributors include:

• Chronic Hepatitis B and C infections, among the leading causes worldwide
• Liver cirrhosis, where scar tissue replaces healthy liver tissue
• Fatty liver disease, increasingly common in India amid rising obesity and diabetes
• Excessive alcohol consumption, which steadily damages liver cells
• Family history of liver disease or cancer
• Exposure to toxins through contaminated food
• Smoking, which raises overall cancer risk

India's shifting disease landscape, sedentary routines, poor dietary habits, and metabolic disorders like obesity and diabetes, means liver cancer is no longer just an infectious-disease concern. It's increasingly a lifestyle disease too.

Can It Be Prevented?

The good news: much of this risk is manageable.

• Get vaccinated against Hepatitis B to block the long-term viral infection that often leads to cirrhosis
• Maintain a healthy weight through diet and regular activity, as obesity is closely tied to fatty liver disease
• Manage diabetes and metabolic health, since insulin resistance accelerates liver damage
• Limit or avoid alcohol, a leading cause of cirrhosis
• Avoid tobacco, which compounds cancer risk
• Stay on top of routine screening if you're at risk; this is one of the most critical preventive steps and includes:
  • Liver function tests (LFTs) to catch early signs of inflammation or damage
  • Ultrasound scans every 6 months for those with cirrhosis, chronic hepatitis B or C, or advanced fatty liver disease
  • Alpha-fetoprotein (AFP) blood tests, used alongside imaging to flag early tumour changes
  • Advanced imaging (CT or MRI) for more detailed evaluation in high-risk cases

Paired with lifestyle changes and timely medical care, these steps can meaningfully lower the risk of developing liver cancer and support long-term liver health.

Know When to Seek Medical Help

Because liver cancer tends to progress silently, early detection is everything when it comes to improving outcomes. Doctors typically rely on a combination of diagnostic tools, ultrasound scans, AFP blood tests, CT or MRI imaging, and in some cases a liver biopsy, to catch the disease at a more treatable stage.

When caught early, treatment can significantly improve survival odds. The right approach depends on the stage of disease, liver function, and the patient's overall health:

• Liver resection, surgically removing only the cancerous portion of the liver, when the disease is localized
• Liver transplant, replacing the entire diseased liver with a healthy donor liver, in select cases
• Ablation, using radiofrequency or microwave energy to destroy cancer cells with heat
• Targeted therapy, drugs designed to attack specific cancer cells while sparing healthy ones
• Immunotherapy, strengthening the body's own immune system to identify and fight cancer cells

Liver cancer is serious and life-threatening, but early diagnosis through screening, paired with timely medical intervention, can meaningfully improve treatment success and survival rates.

(By Dr. Kundan, Consultant - Surgical Oncology, Manipal Hospital, Ghaziabad_

Women have a higher overall risk and prevalence of Alzheimer’s disease and certain other forms of dementia, partly because they tend to live longer than men and because of changes in estrogen levels after menopause.

A new study by researchers from the University of East Anglia (UEA) and the University of Exeter suggests that hormone replacement therapy (HRT) may be associated with a lower risk of dementia in some women.

“Dementia affects millions of people worldwide, with women making up almost two-thirds of Alzheimer’s disease cases, the main form of dementia. As populations age, understanding how sex-specific factors influence dementia risk is increasingly important,” said Prof Anne-Marie Minihane from UEA’s Norwich Medical School, who led the study.

HRT Linked To Lower Alzheimer’s Risk

The study, published in the journal Alzheimer’s & Dementia, analyzed health data from more than 180,000 postmenopausal women in the UK.

The findings showed:

• 16% lower risk of Alzheimer’s disease among women who had used HRT compared with those who had never used it.
• 10% lower risk of dementia overall was associated with HRT use.
• 26% lower risk of any dementia among women who had undergone surgical menopause and used HRT.
• 16% lower risk of any dementia among women with lower lifetime estrogen exposure due to later menstruation or earlier menopause.

Which Groups Benefited More From HRT?

The association between HRT use and lower dementia risk was stronger in certain groups. These include:

• Women who underwent surgical menopause: Those who used HRT had a 26% lower risk of dementia compared with non-users.
• Women with lower lifetime estrogen exposure: Those who started menstruating later or experienced menopause earlier had a 16% lower risk of dementia with HRT use.
• APOE4 carriers: The association between HRT use and lower dementia risk was stronger among women carrying the APOE4 gene variant, a known risk factor for Alzheimer’s disease.
• Women who started HRT between ages 46 and 56: This group experienced the greatest reduction in dementia risk.
• Timing may matter: The findings support the “critical window” hypothesis, suggesting HRT may offer greater benefits when started closer to the menopausal transition rather than later in life.

Could HRT Support Personalized Care?

The researchers said the findings add to growing evidence that the effects of hormone therapy on brain health are complex and may vary between women.

“While HRT has long been prescribed primarily to relieve menopausal symptoms such as hot flushes and night sweats, this work suggests it may also play a role in long-term cognitive health for some women,” Prof Minihane said.

The latest findings build on previous research from UEA, which found that HRT use was associated with better memory, cognition and larger brain volumes later in life among women carrying the APOE4 variant.

The team said the findings could help support more personalized approaches to HRT prescribing, taking into account factors such as menopause type, genetic risk, lifetime hormone exposure and age at HRT initiation.

Prof David Llewellyn of the University of Exeter Medical School said the findings help identify which women may be more likely to benefit from HRT and when treatment may have the greatest effect.

The association between stress and psoriasis is one of the better-documented cases of the mind and skin connection within dermatology. Consistent across studies, at least in most case series, there is a sizable proportion of patients who experience an important stressful event within the weeks prior to onset or flare-up.

The mechanism is quite clear cut. While the skin is often seen as being passive, it is far from it. Skin itself is immunologically active, having a stress response system of its own, able to produce corticotropin-releasing hormone and cortisol independently from adrenals.

The Mind-Skin Connection

Under prolonged stress, the shift happens in the hypothalamic-pituitary-adrenal axis, leading to a reconfiguration of the immune response towards inflammatory pathways, specifically IL-17 and IL-23 pathway which was targeted by most biologics developed up to now.

Neuro-endocrine innervations lead to the release of neuropeptides such as substance P, attracting inflammatory cells while lowering the threshold of itching. Chronic stress also impairs barrier recovery process, relevant for a disease where the slightest skin damage leads to a plaque formation.

So whenever a patient claims stress caused her flare-up, she is describing an actual immunological phenomenon.

And the cycle, which is the part that entraps people.

And here lies the complexity, the place where I believe most of the articles end prematurely.

Also read: ‘Sunscreen Is A Health Essential’: UK Skin Cancer Survivor Urges Govt To Scrap Tax

Stress Aggravates Psoriasis

Then the psoriasis becomes the source of stress. Highly visible plaques on hands, scalp or face are hard to hide within a culture where we greet, eat and worship with our hands. Patients start dressing in ways that conceal their plaques. They avoid public showers, salons, wedding events. Itch affects their sleeping habits, causing higher inflammation levels.

Then come the questions patients do not usually disclose unless specifically asked. The shame. Some patients have experienced people wondering whether they could catch the condition. Some of them have been asked to leave the salon where they went. This is not just an annoyance, but also a hurt, directly feeding back into the loop.

The prevalence of depression and anxiety in psoriasis is much higher than among healthy people. Moreover, these problems cannot be explained only by a reaction to one's appearance. The same inflammatory mediators, which cause psoriasis, are now associated with depression. Therefore, psoriasis and depression can be two symptoms of one inflammatory condition.

Also read: Mpox Spreads in Guinea-Bissau, Half Of Suspected Cases Are Children

What Really Helps?

Here I need to be very careful, since the idea that stress provokes psoriasis can be twisted into the belief that the patient has caused his/her own illness. But it is not true and is insulting to people suffering from the condition. It should be said again that psoriasis is a genetically based immune disorder. It is stress that exacerbates the disease.

Within this framework, stress management techniques are useful and there is the trial evidence for their efficiency. In one study, mindfulness-based intervention helped to improve the outcome and even accelerated clearance with phototherapy.

Physical exercise has an independent anti-inflammatory effect and treats metabolic syndrome associated with psoriasis. Sleeping is an obligatory factor because sleep deprivation increases the level of cytokines that we need to suppress. Cognitive behavioral therapy helps people to cope with itching-scratching cycle.

There is no doubt that alcohol and smoking make psoriasis worse, although they are usually used as a coping strategy in response to stress. They serve as an additional burden on health.

All of this is important but not an alternative to treatment. Topicals, phototherapy, systemic medications, and biological agents still remain the core of the treatment regimen. Stress management is only an adjunct, and I always remind my patients about it so that they never feel guilty for taking medicine.

Treat The Whole Person

Now I ask two questions at each review of psoriasis. How much of the body surface area is affected and how much of the person's life does it occupy. The answer to these questions often does not coincide.

I saw patients with rather small involvement of the skin surface, whose psoriasis completely ruined their self-esteem. And I met patients with large involvement who coped with the disease perfectly.

Body surface area does not measure suffering. If we treat only what we can see, we will treat half of the disease.