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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How Weather Changes Trigger Migraines, Neurologist Explains

Updated Jun 1, 2026 | 02:56 PM IST

SummaryWeather changes can affect brain chemistry by influencing serotonin levels, a neurotransmitter involved in migraine development.
How Weather Changes Trigger Migraines, Neurologist Explains

Credit: AI created image

New Delhi's weather is fluctuating sharply, with Western Disturbances driving bouts of intense heat and sudden pre-monsoon showers. The city is currently hovering in the mid-30s°C but is also bracing for a return to scorching heat, with maximum temperatures forecast to climb into the low to mid-40s°C this week.

Such weather fluctuations can play a significant role in triggering migraine attacks, said Dr. Vivek Kumar, Principal Director - Neurology, Max Super Speciality Hospital, Patparganj.

Weather Factors That Can Trigger Migraines

Speaking to HealthandMe, Dr. Vivek noted that many components of weather are reported to affect migraine. These include:

  • Barometric pressure
  • Humidity
  • Temperature
  • Seasons

Dr. Kumar explained that a drop in atmospheric pressure, often seen before storms, can create a pressure imbalance between the environment and the sinuses or inner ear, stimulating nerves and leading to headaches.

"Rapid temperature changes, as well as exposure to extreme heat or cold, can also trigger migraine episodes," he said.

Similarly, both high humidity and very dry air have been associated with the onset of migraine symptoms. Bright sunlight and intense sun exposure, particularly when reflected off surfaces such as snow or water, are also recognized migraine triggers.

Also read: Global Temperatures Likely To Stay Near Record Levels For Next Five Years: WMO

How Does The Weather Trigger Migraines?

According to Dr. Kumar, weather changes can affect brain chemistry by influencing serotonin levels, a neurotransmitter involved in migraine development. They may also contribute to inflammation or pressure differences within the sinuses.

Further, the expert noted that seasonal transitions can be particularly challenging.

"Spring and summer may trigger migraines because of heat and allergens, while winter's cold and dry air can also contribute to headaches and sinus discomfort," he said.

Notably, weather is often only one factor among several. Allergies during spring or viral illnesses during autumn may also combine with environmental changes to trigger headaches, Dr. Kumar stressed.

Migraine Vs Sinus Headache

Read More: What Can You Learn About Your Health From Ice Cream Headaches?

Migraine is also frequently mistaken for a sinus headache because the symptoms often overlap.

Dr. Kumar noted that migraine attacks can cause forehead and facial pressure, as well as nasal congestion or a runny nose. Unlike migraine, however, sinus infections may be accompanied by fever.

He explained that migraine can activate nerves in the face, a phenomenon known as cranial autonomic activation, which can create sensations of nasal blockage and congestion.

While weather changes are difficult to avoid, monitoring weather forecasts may help people prepare for potential triggers. Preventive treatment may also reduce sensitivity to environmental changes and allow greater freedom in daily activities.

Tips To Prevent Migraine

Dr. Kumar advised:

  • Keeping a migraine diary for at least 90 days to help identify specific weather-related patterns associated with attacks.
  • Treating migraine attacks early when weather-related triggers are suspected. Early treatment can shorten the duration of an attack and prevent symptoms from becoming severe.
  • Maintaining adequate hydration, particularly during hot weather or physical activity. Carrying water when outdoors can help compensate for fluid loss through sweating.
  • For those sensitive to bright sunlight, staying indoors during peak daylight hours may be beneficial. When outdoor exposure is unavoidable, protective sunglasses or hats can help reduce glare and light sensitivity.

End of Article

Pancreatic Cancer: What Is The Role Of Keratin 17 In Driving The Feared Disease?

Updated Jun 1, 2026 | 04:00 PM IST

SummaryA recent study by the researchers from Yale School of Medicine, led by Kenneth Shroyer and Natalia Marchenko, sheds light on the role of Keratin 17 in driving pancreatic cancer.
Pancreatic Cancer: What Is The Role Of Keratin 17 In Driving The Feared Disease?

Credit: Canva

Pancreatic cancer is one of the most feared diseases, and it causes thousands of lives to be wasted away due to this fatal disease. According to the Population-Based Cancer Registries (PBCRs) managed by the Indian Council of Medical Research (ICMR) and the IARC Global Cancer Observatory (GLOBOCAN), about 22,982 Indians have pancreatic cancer every year.

On the other hand, the American Cancer Society's US SEER Pancreatic Cancer Stat Facts shows the annual number of cases is 67,530. Thus, any lead to resisting cancer is good news for the world. Recently, a research team from Stony Brook Medicine and Luisa Escobar-Hoyos of Yale School of Medicine, led by Kenneth Shroyer and Natalia Marchenko, found an important fact to fight the fatal disease.

The study investigated the role of Keratin 17 (K17) and found that the protein can be a driver of chemoresistance to gemcitabine. It is often used to treat various types of cancer. The study shows that the K17 can act as a target for the development of novel treatments.

They discovered that the protein is a key driver of chemoresistance to gemcitabine, an agent used to treat a wide range of cancers, including advanced tumors of the pancreas, lungs, and breast.

How New Pancreatic Cancer Drug Daxorrasib Can Help You?

Daxaronrasib is a daily oral pill that has demonstrated statistically significant and clinically meaningful improvements in progression-free survival (PFS) and overall survival (OS) compared with standard intravenous chemotherapy.

Described as a multi-selective inhibitor of RAS(ON) proteins, it is the first investigational drug in a new class of RAS inhibitors designed to target a broad spectrum of cancer-causing RAS mutations.

The drug works by blocking KRAS signalling proteins that drive tumor growth.

Read More: New Pancreatic Cancer Drug Daxaronrasib May Benefit Patients With Lung And Ovarian Tumors Too

Daraxonrasib is the first drug. It works by pairing up with a protein called cyclophilin A inside cells, acting like a molecular glue, glomming onto the mutated protein.

Pancreatic cancer is considered one of the most RAS-dependent cancers, with more than 90 per cent of patients carrying tumours driven by RAS protein mutations. Similar RAS-targeting drugs are also being developed for pancreatic, lung, and colon cancers.

The findings were presented at a plenary session of the American Society of Clinical Oncology’s meeting in Chicago on May 31 and simultaneously published in the New England Journal of Medicine.

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Explained: Why You Are Unable To Lose Weight Despite Doing Everything Right

Updated Jun 1, 2026 | 02:00 PM IST

SummaryWhen weight loss does not happen despite doing everything "right," it is rarely a question of discipline.
Weight loss (1)

Weight loss is a slow process, but it must be done right for best results. (Photo credit: iStock)

For many individuals, the most frustrating part of weight loss is not the effort; it is the lack of results. Strict diets are followed, workouts are consistent, and routines are maintained with discipline, yet the scale refuses to move in a meaningful way. What appears, on the surface, to be a failure of method is often a reflection of how the body is designed to respond.

Weight loss process explained

Dr V G Mohan Prasad, M.D., D.M. (Gastro), FASGE, FRCP(E), FICP, FSGEI, Senior Consultant Gastroenterologist, Hepatologist & Therapeutic Endoscopist, VGM Hospital, Tamil Nadu, in an interaction with Health and Me, said, "Weight loss is not a straightforward process of cutting calories. When food intake is reduced, the body does not simply comply; it adapts. Metabolism slows down, energy is conserved, and hunger signals become stronger. Over time, particularly in those who have gone through repeated cycles of dieting, the body becomes more efficient at holding on to energy. This adaptive response can create a situation where effort continues, but progress stalls."

At the same time, fat loss does not occur uniformly. Certain areas of the body, especially abdominal fat, are more resistant due to hormonal influences. This often leads to a mismatch between internal metabolic improvements and visible physical changes, making it seem as though nothing is working, even when the body is undergoing shifts beneath the surface.

The role of metabolic health

Metabolic health also plays a defining role. Two individuals following identical routines can have very different outcomes depending on factors such as insulin sensitivity, muscle composition, and inflammation levels. In some cases, underlying medical conditions or long-term medication use can further complicate the process, making conventional approaches less effective.

The ideal weight loss strategy

What this highlights is a need to move beyond standardised weight-loss strategies. When the body resists, simply intensifying effort is rarely the solution. Instead, it calls for a more targeted and individualised approach that takes these biological responses into account.

This is where advancements in medical science are beginning to bridge the gap. Alongside lifestyle changes, minimally invasive procedures using endoscopic techniques through the mouth, thereby obviating the need for surgery, are increasingly being used to support individuals who struggle despite sustained efforts. Endoscopic sleeve gastroplasty (ESG), for instance, works by reducing stomach volume and delaying the emptying of the stomach, helping individuals feel full sooner and sustain dietary changes over time. Another endoscopic technique is the placement of an intragastric balloon in the stomach, which promotes portion control and supports behavioural modification.

For those who have previously undergone bariatric surgery and are experiencing weight regain, endoscopic transoral outlet reduction (TORe) helps restore satiety by reducing the size of the gastric outlet.

These interventions are not designed to replace healthy habits but to work alongside them, particularly in cases where biological resistance makes progress difficult. They reflect a broader shift in how weight management is being understood—not as a one-size-fits-all process, but as something that requires alignment between effort and how the body responds.

Failure to lose weight is a reminder that the body is not a simple system and that effective solutions must take its complexity into account.

End of Article