Why Some People Are Immune To Deadly Diseases Over Others?

Updated Mar 1, 2025 | 07:00 PM IST

Summaryhe 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.
COPA syndrome

Credits: Canva

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.”

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This Year, Doctor's Day Reminded That Doctors Too Are Humans And Can Get Emotionally Exhausted

Updated Jul 4, 2025 | 08:01 AM IST

SummaryThis Doctor’s Day highlighted the urgent need to support doctors’ mental health. A survey revealed rising burnout, blurred personal boundaries, constant digital demands, and growing fears of violence—all contributing to chronic stress and emotional exhaustion in the medical community.
This Year, Doctor's Day Reminded That Doctors Too Are Humans And Can Get Emotionally Exhausted

Credits: Canva

This year's Doctor's Day was a reminder to all that doctor's too are human. The theme specifically focused on healing the healers, emphasizing on the need for people to recognize doctor's struggle and treat them with empathy and sympathy.

No Lines Between Personal And Professional Life

Health and Me had earlier reported on how doctors, even when they are not at work receive work questions all the time. In a previous interview with Health and Me, Dr Guru N Reddy, a senior gastroenterologist, shared, “I didn’t spend time with my family when my kids were growing up. My work always came first and then came my family.” He also shared that how whenever he is gone for a gathering, it turns into an unofficial consultation desk. “Can I quickly show you this report?” “There’s this pain that won’t go, can you suggest something?” These are the questions he is faced with even at family events.

All such scenarios will undoubtedly make a doctor feel overwhelmed. In fact, a survey conducted by Medtalks, a doctor engagement platform, revealed that doctors are burdened by growing mental and emotional burden.

The survey, though small scale, conducted among 200 doctors across public and private health care, revealed an important issue. It found that 74% of respondents felt emotionally exhausted on a weekly or even on a daily basis. This survey also highlighted the depth of burnout and chronic stress in the medical profession.

Many doctors also agreed that even after their work hours, they were still entertained with questions related to their patients health through WhatsApp. The data revealed that over 83% of doctors felt that they were under constant stress as their patients continued to contact them through WhatsApp, phone calls, and digital messages, with many asking them for urgent queries. This round-the-check communication has blurred personal and professional boundaries, which has disassociated doctors from their own families.

Looming Fear Of Threat And Violence On Doctors

The survey also found that threat and violence against doctors were a major source of stress and concern. Indian Medical Association (IMA) President, Dr Dilip Bhanushali, in an earlier interview with Health and Me had said, "Violence against doctors is not rare—it’s routine."

He further added: “We’ve seen mobs arrive with kerosene, petrol, even swords, burning down hospitals. There was a law during COVID promising seven years imprisonment and non-bailable warrants for attacks on doctors, but it hasn’t been enforced. Most states still have weak three-year, bailable punishments.”

He also pointed towards the RG Kar Medical College’s case where a female postgraduate trainee doctor was raped and murdered and her body was found in a seminar room on campus. Doctors across the nation went on a strike, demanding justice. “But we cannot go to the roads and do strikes every time. Despite it all, we uphold our Hippocratic oath.”

The survey too echoed the same feelings, where many respondents admitted that this fear has directly influenced their approach to diagnosis, communication, and decision-making. Doctors are now acting more defensively.

The strain on doctors is intensified by mounting administrative duties, fear of legal action, limited institutional support, and rising expectations to deliver flawless outcomes.

Over one-third of doctors reported working more than 60 hours a week, while only 17 percent are able to take a full, uninterrupted day off on a regular basis. Most respondents said they receive minimal support in coping with these demands. Strikingly, just 14 percent felt the current healthcare system allows them to prioritise their own wellbeing, whereas 52 percent said it does not.

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Later Dinners Are A Recipe For Disaster - Study Finds The Best Time To Eat Dinner For Health

Updated Jul 4, 2025 | 05:00 AM IST

SummaryRunning late on dinner sometimes may be fine, but what happens when you become a frequent late night diner? What is the best time to eat dinners?
Later Dinners Are A Recipe For Disaster - Study Finds The Best Time To Eat Dinner For Health

When it comes to dinner, many of us focus on what we eat, aiming for healthy and delicious food. But we often don't think about when we eat it, squeezing dinner in whenever our busy schedules allow. However, a growing amount of research suggests that when you eat can be just as important for your health as what you eat. And it seems that eating dinner earlier might be the way to go.

What's the Best Time for Dinner?

Scientists haven't found one single "perfect" dinner time, but it's generally best to avoid eating late for your metabolism. Try to finish dinner at least two hours before you go to bed, and ideally even longer. According to a 2024 study published in the JAMA Network Open, good goal is to eat dinner sometime between 5 p.m. and 7 p.m.

Of course, life happens, and sometimes you'll have to eat later. If it's just occasionally, don't worry too much. Just try not to eat a very large meal right before bed. In fact, research suggests that dinner shouldn't be your biggest meal of the day, which is different from what many Americans are used to. Instead, try to eat most of your calories earlier in the day, around when you wake up or in the middle of the day.

Why Does When You Eat Dinner Matter?

Our bodies have internal "clocks" that manage how we function throughout the day. This means that the exact same meal can affect your body differently depending on the time you eat it.

For instance, one study found that when healthy young adults ate the same dinner at 10 p.m. instead of 6 p.m., their blood sugar levels went higher and their bodies processed fat less effectively. Late dinners can have this impact even if you're not eating right before bed.

One reason for this could be melatonin, a hormone your body releases at night to help you sleep. As melatonin levels rise, it seems to make it harder for your body to control blood sugar, leading to bigger and longer-lasting spikes after a late meal. Research also shows that eating dinner late can make you hungrier, cause your body to burn fewer calories, and even lead to changes in your body that promote fat gain.

How Late Dinners Affect Your Health

While many studies on meal timing are done in controlled lab settings, the findings suggest that regularly eating dinner late could increase your risk for health problems like type 2 diabetes and obesity. Many studies have already shown this connection. On the other hand, eating more of your calories earlier in the day seems to help with weight loss and improve signs of good metabolic health.

It's not just about metabolism either. Other research suggests that people who stop eating after 6 p.m. tend to get more sleep than those who eat until midnight. There's even a serious study from 2024 that links late eating to a higher risk of death. So, the general advice is clear: for most people, it's best to limit how much food you eat during the nighttime hours.

Tips for Eating Dinner Earlier

If you're used to eating late, changing your routine can be tough. To make the switch easier, start by making changes earlier in your day. If you often skip breakfast and grab a quick, small lunch, you'll likely be very hungry by evening. So, make sure you eat good, hearty meals earlier in the day that include plenty of protein, fiber, and healthy fats. This will help you feel less hungry at night.

Some people also find it helpful to set a specific "cut-off time" after which they stop eating, rather than just vaguely aiming for an earlier dinner. If you try this, it's okay to start small. Begin by closing the kitchen just 30 minutes before bedtime, then extend it to an hour, and so on. The key is to start where you are and build up gradually.

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Australian Man Dies From An 'Extremely Rare' Rabies Like Infection After A Bat Bite

Updated Jul 3, 2025 | 11:00 PM IST

SummaryOnly the fourth known human case of Australian bat lyssavirus infection ends in tragedy. The case of an Australian man getting bitten by bat highlights the ongoing public health risk from bat exposure.
Australian Man Dies From An 'Extremely Rare' Rabies Like Infection After A Bat Bite

Credits: Canva

An Australian man in his 50s has died after contracting Australian bat lyssavirus (ABLV), a rare but deadly virus closely related to rabies. The man, who lived in northern New South Wales, was bitten by a bat several months ago and succumbed to the infection this week after being hospitaliszed in critical condition.

In a statement released on Thursday, NSW Health confirmed the fatality and extended condolences: “We express our sincere condolences to the man's family and friends for their tragic loss. While it is extremely rare to see a case of Australian bat lyssavirus, there is no effective treatment for it.”

What Is Australian Bat Lyssavirus?

First identified in 1996, Australian bat lyssavirus belongs to the Lyssavirus genus, the same family as the classical rabies virus (RABV). Like its more globally prevalent cousin, ABLV causes a fatal form of viral encephalomyelitis—an inflammation of the brain and spinal cord. Once symptoms develop, there is no known cure or treatment.

Transmission occurs when the saliva of an infected bat enters the body through a bite or scratch. According to NSW Health, any bat in Australia—regardless of species—could potentially carry the virus. In this case, officials have not yet identified the exact bat species responsible for the infection.

Early Symptoms Often Misleading

The early symptoms of ABLV infection mimic those of the flu, including headache, fever, and fatigue, which can delay diagnosis. However, the disease rapidly progresses to paralysis, delirium, convulsions, and ultimately death.

Symptoms may appear days, weeks, or even years after exposure, adding another layer of complexity to diagnosis and response.

This recent death is only the fourth recorded human case of ABLV infection in Australia, and tragically, all four have been fatal.

A Preventable Tragedy

While the disease has no cure, prompt medical treatment after exposure can prevent infection. NSW Health strongly urges the public to avoid all contact with bats. In the event of a bite or scratch, the following steps should be taken immediately:

  • Wash the wound thoroughly with soap and water for at least 15 minutes
  • Apply an antiseptic with antiviral action
  • Seek urgent medical attention for administration of rabies immunoglobulin and a rabies vaccine series

Dr. Jeremy McAnulty, Director of Health Protection at NSW Health, emphasized the importance of public awareness: “No matter how minor the scratch or bite may seem, immediate treatment is essential. Rabies vaccines are extremely effective when administered quickly.”

The Broader Context: Lyssaviruses and Rabies Risk

Australian bat lyssavirus may be rare, but its relation to rabies—one of the deadliest infectious diseases globally—makes it especially concerning.

According to a 2021 study titled "Rabies Infection: An Overview of Lyssavirus-Host Protein Interactions," lyssaviruses are negative-sense, single-stranded RNA viruses known to infect mammals and cause fatal encephalomyelitis. Despite differences in geography and host species, illnesses caused by rabies virus (RABV) and other lyssaviruses are virtually indistinguishable once symptoms appear.

Worldwide, rabies still causes approximately 60,000 deaths annually, mostly in Asia and Africa. The fatality rate of clinical rabies—once symptoms begin—is nearly 100%, underscoring the importance of pre- and post-exposure prophylaxis.

Flying Foxes and Microbats Under Scrutiny

ABLV has been found in multiple Australian bat species, particularly flying foxes and insect-eating microbats. These animals often come into contact with humans, especially in urban or suburban environments where bats may roost or forage.

Despite the important ecological role bats play—as pollinators, pest controllers, and seed dispersers—public health officials continue to stress no direct handling of bats by untrained individuals. Wildlife carers and veterinarians are advised to wear protective gear and be vaccinated against rabies.

Public Health Measures Going Forward

This latest case serves as a stark reminder of the persistent, though rare, risk that Australian bat lyssavirus poses to human health. NSW Health is reinforcing education campaigns and urging any bat encounters to be reported immediately.

Authorities continue to collaborate with wildlife and disease surveillance networks to monitor ABLV across bat populations and ensure rapid response to potential exposures.

In closing, NSW Health reiterated, “Although Australian bat lyssavirus cases are extremely rare, they are always fatal without timely treatment. Awareness and early action can mean the difference between life and death.”

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