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.”

Systematic Lupus Erythematosus (SLE), also known as Lupus, is a multisystem autoimmune disease in which one's immune system attacks the body. It is most common in women of reproductive age; however, in rare cases, it can present in men and patients of any age.

Lupus Symptoms: More Than Just Joint Pain

Symptoms for SLE can range from unexplained fever for days to months, to oral ulcers, malar rash, photosensitivity (after exposure to sun), hair loss, headache, stroke, seizure, abnormal behavior (psychiatry lupus). A large group of patients experiences joint swelling, pain, and fatigue. If the kidneys are affected in Lupus patients, they can pass blood with their urine.

Their urine output also decreases; their legs swell, and there is swelling around the eyes. Involvement of the heart, brain, and pancreas is also not uncommon. Lupus is one of the causes of multiple unexplained pregnancy losses, especially in the second trimester, but with proper treatment and observation, many patients do well and have an uneventful pregnancy and childbirth.

Common Myths About Lupus

Some very prominent myths about SLE need to be debunked. Many think SLE is contagious and that only women can get it, when in reality, neither is true. Being an autoimmune disease means it cannot spread by contact, and it impacts both men and women, although the incidence rate of SLE is higher for women. Many also believe in the common misconception that it affects only joints, when in reality it is a multisystem disease that can affect the kidneys, heart, brain, skin, and lungs.

There is a common myth that pregnancy is impossible or unsafe for women with Lupus; however, many women with Lupus can conceive and experience safe and healthy full-term pregnancies under the right medical guidance. Kidney biopsy, which is a required test for treating Lupus, is often deemed unsafe, but it is a safe test and is required to decide the stage of the disease and treatment.

Lupus: Warning Signs

Some symptoms that can be a cause of alarm in SLE are rapid rising serum creatinine, new onset seizure or psychosis, sudden onset shortness of breath associated with chest pain, blood in cough with low oxygen saturation, acute confusional state with fever, vision changes, severe abdominal pain, unexplained severe anemia, severe thrombocytopenia (platelet count < 20,000).

Managing Lupus

For accurate diagnosis and treatment, one needs a rheumatologist's consultation. Rheumatologists will decide the plan of treatment to manage symptoms, reduce inflammation, prevent flares of the disease, and minimize organ damage. Lifestyle measures like avoiding Sun exposure, quitting smoking, lowering stress, and engaging in some low-impact physical activities help patients to minimize the disease burden.

There is very little awareness about Lupus in society, and due to varied presentations and symptoms, patients often consult with multiple doctors of different specialties before consulting with rheumatologists. We need to push for more awareness in society about less talked-about ailments like Lupus, which needs efficient intervention and management, as it is a lifelong condition. Talking about it also helps reduce stigma and bust myths around it. Late diagnosis and delay in treatment can cause significant morbidity, disease progression, and mortality. With early diagnosis and optimal treatment.

Holistic care is possible, which goes a long way in helping individuals manage autoimmune conditions like Lupus

(By Dr Niharika Gill, Rheumatologist, Lilavati Hospital and Research Center, Mumbai)

Prostate cancer presents a troubling paradox. It is among the most treatable cancers when detected early, with survival rates exceeding 99% at five years. Yet it continues to be a major cause of cancer-related deaths among men worldwide.

The challenge is not always the aggressiveness of the disease; it is the fact that prostate cancer often develops quietly, with symptoms that are easy to overlook or dismiss.

When Cancer Doesn't Make a Sound?

The prostate is located deep within the pelvis, beneath the bladder and surrounding the urethra. In its early stages, prostate cancer typically causes little to no discomfort. Small tumors rarely affect nearby nerves or tissues, allowing the disease to progress unnoticed.

Even when symptoms do appear, they are often mistaken for natural signs of ageing. Changes such as a weaker urine stream, increased frequency of urination, urgency, or waking up several times at night are commonly associated with benign prostate enlargement. This condition affects many men as they grow older. As a result, warning signs are frequently ignored or attributed to age-related changes rather than investigated further.

Unfortunately, more alarming symptoms, including blood in the urine or semen, persistent bone pain, unexplained weight loss, or difficulty passing urine, often emerge only when the disease has advanced beyond the prostate.

Why Men Delay Seeking Help

Biology is only part of the story. Social and psychological factors play an equally important role in delayed diagnosis.

Many men are conditioned to endure discomfort rather than seek medical attention. Persistent messages around toughness and self-reliance can discourage conversations about health concerns, particularly when symptoms involve urinary or sexual function.

Fear also contributes to postponement. Some men worry about receiving a cancer diagnosis, while others are concerned about potential treatment side effects such as urinary incontinence or erectile dysfunction. For many, avoiding the test feels easier than confronting the possibility of bad news.

A lack of awareness further compounds the problem. Unlike heart health or diabetes, prostate health is rarely discussed openly. Many men are unfamiliar with the prostate gland, its role in the body, or the importance of prostate-specific antigen (PSA) testing.

The Role of Stigma and Social Barriers

Symptoms linked to urinary or sexual health often carry an element of embarrassment, making men less likely to discuss them with friends, family members, or healthcare professionals.

Additionally, many men prioritize work and family responsibilities over their own health. Preventive screening may be viewed as unnecessary, especially when symptoms seem minor or absent. This tendency can delay diagnosis until the disease reaches a more advanced stage.

Health disparities also play a role. Certain populations face higher risks of developing and dying from prostate cancer, yet often experience lower rates of screening and healthcare access, highlighting the need for more targeted awareness efforts.

Challenges Within the Healthcare System

Unlike some other cancers, prostate cancer screening recommendations are not universally standardized. Decisions around PSA testing are often based on age, risk factors, and individual discussions between patients and healthcare providers.

Because symptoms frequently overlap with benign conditions such as urinary tract infections or prostate enlargement, prostate cancer may not always be suspected immediately. Furthermore, many men do not attend regular health check-ups, reducing opportunities for early detection and informed conversations about risk.

Who Should Be Particularly Vigilant?

While all men should be aware of prostate health, certain groups face a higher risk of developing the disease:

• Men over the age of 50
• Individuals with a father, brother, or close relative diagnosed with prostate cancer
• Men carrying inherited genetic mutations such as BRCA2
• Those with obesity, smoking habits, or diets high in processed foods and saturated fats

Breaking the Silence

Improving outcomes starts with changing the conversation around prostate health. Rather than viewing screening as a response to illness, it should be considered part of routine preventive healthcare, similar to monitoring blood pressure, cholesterol, or blood sugar levels. Men should feel comfortable discussing urinary changes, however minor they may seem, with their healthcare providers.

Public awareness campaigns, workplace screening initiatives, and community outreach programs can play a vital role in normalizing conversations around prostate health. Equally important are personal stories from survivors and public figures, which can encourage others to seek timely medical advice.

The Difference Early Detection Makes

When prostate cancer is identified at an early stage, treatment options are often less invasive and highly effective, ranging from active surveillance to curative surgery or radiation therapy. Survival outcomes are excellent.

In contrast, advanced prostate cancer may require long-term hormone therapy, chemotherapy, and ongoing management of symptoms that significantly affect quality of life. The burden extends beyond health, impacting emotional well-being, family life, and financial stability.

A Message Every Man Should Hear

Prostate cancer often develops without obvious warning signs, making awareness and proactive screening essential. The goal is not to create fear, but to empower men to take charge of their health before symptoms become impossible to ignore.

When it comes to prostate cancer, the conversation should begin long before the disease announces itself.

Not long ago, heatstroke was something most people associated with spending hours outdoors in scorching heat. That picture has changed.

Heatwaves today are longer, more intense, and more frequent than they used to be. Heat-related illnesses are showing up across all age groups, and what makes heatstroke particularly dangerous is how quietly it can creep up. The body usually sends warning signals well before things get serious, but those signals get mistaken for tiredness, dehydration, or just an off day.

Catching them early can stop a medical emergency before it happens.

It Is More than Just Feeling Hot

Heatstroke happens when the body loses its ability to regulate temperature, and the core temperature starts climbing rapidly. Unlike heat exhaustion, which is uncomfortable but manageable, heatstroke is a genuine medical emergency. Left unaddressed, it can affect the brain, heart, kidneys, and other vital organs.

Most people wait for dramatic symptoms before taking it seriously. The early signs, however, are often anything but dramatic.

Warning Signs People Keep Dismissing

One of the earliest signals is feeling unusually wiped out. If someone who is normally active suddenly feels drained after doing very little, the body may be struggling to handle the heat. This often comes with dizziness, weakness, or a light-headed feeling that is hard to shake.

Persistent headaches are another sign that tends to get ignored. People blame them on poor sleep, stress, or not drinking enough water, and carry on with their day. But a headache that keeps coming back during extreme heat can mean the body is under real strain.

Other signs worth watching out for:

- Excessive thirst or a noticeably dry mouth

- Muscle cramps, especially in the legs

- Nausea or a sudden loss of appetite

- Reduced sweating even when feeling very hot

- Difficulty concentrating or feeling unexpectedly confused

On their own, each of these can seem minor. Together, they can be a sign that the body's cooling system is starting to give way.

When Things Turn Serious

As heatstroke progresses, the symptoms become harder to miss. A very high body temperature, a racing heartbeat, flushed skin, confusion, slurred speech, or out-of-character behavior are all red flags.

One of the more dangerous aspects of heatstroke is that the mental changes can be subtle enough to be mistaken for exhaustion. A person may seem disoriented, unusually irritable, or unable to think straight. Family members sometimes put it down to tiredness when it may actually mean the brain is being affected by a rapidly rising body temperature. That distinction matters.

Who Needs to Be Most Careful

Anyone can develop heatstroke, but some people carry a higher risk. Older adults, young children, outdoor workers, athletes, and people living with chronic conditions like heart disease, diabetes, or kidney disorders are particularly vulnerable. Certain medications, including diuretics and some psychiatric drugs, can also reduce the body's ability to manage temperature and stay hydrated.

Simple Steps That Make a Real Difference

Drink water throughout the day, not just when you feel thirsty. Avoid being outdoors during the hottest part of the afternoon. Wear loose, breathable clothing and get to a cool or shaded space when you can.

More than anything, pay attention to what your body is telling you. Heatstroke rarely arrives without warning. Unusual fatigue, dizziness, a persistent headache, or sudden confusion during hot weather are not things to push through and ignore.

The Bottom Line

Heatstroke is no longer an occasional summer story. As temperatures keep climbing, it is becoming a public health concern that touches more people every year.

The early warning signs are there if you know what to look for. Recognizing them and acting quickly can be the difference between recovering at home and ending up in a hospital.