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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
Credit: AI generated image/HealthandMe
India is better prepared to deal with potential Hantavirus outbreaks due to the healthcare infrastructure and quarantine systems established during the COVID-19 pandemic, according to Dr NK Ganguly, former Director General of the Indian Council of Medical Research (ICMR).
In an exclusive interview with HealthandMe, Dr Ganguly said that while isolated cases of Hantavirus have appeared in India in the past, especially in crowded peri-urban and urban settings in Kerala, large-scale outbreaks have largely been reported in countries such as China, Argentina, the UK, and the US.
Dr Ganguly said that India's healthcare system significantly improved after the deadly COVID pandemic.
“India is overprepared in a way that during the COVID-19, our system, even at the district level or in much more rural settings, got established,” he said.
He pointed out that hospitals now have access to ECMO, BPAP systems, ventilators, and oxygen management facilities to curb the spread in case of an outbreak.
Dr Ganguly also mentioned the availability of antiviral drugs and experimental vaccine efforts that could potentially be explored for hantavirus treatment. “There are some crude vaccines which are made here also,” he said.
He added that India’s quarantine systems and public health drills developed during COVID-19 would also help contain future outbreaks.
“I think India will be okay because of the sheer transmission dynamics of this virus,” he said.
Hantavirus is a zoonotic disease that primarily gets transmitted through contact with infected rodents or exposure to their urine, droppings, and saliva, though rare cases of person-to-person transmission have also been reported.
According to the World Health Organization (WHO), 11 cases — including three deaths — have been confirmed so far. However, additional suspected and confirmed cases are likely to emerge across countries.
Also read: Hantavirus Can Linger Indoors, Spread Through Contaminated Dust, Says Infectious Disease Expert
The One Health approach is critical in understanding and containing outbreaks like hantavirus, Dr Ganguly said.
The One Health approach, which integrates human health, animal health, and environmental monitoring, is also crucial to target the emerging infectious diseases, he noted.
Further, the noted microbiologist stressed the importance of strengthening surveillance across humans, animals, and the environment.
He explained that disease surveillance requires collaboration between bird specialists, forest experts, environmental scientists, and mammologists, especially for tracking zoonotic infections such as avian flu and hantavirus.
“In avian flu, birds follow special migration routes, so we needed bird specialists, forest experts, environmental experts, and mammologists,” Dr Ganguly said.
The expert also highlighted the growing challenge posed by shrinking spaces between humans and animals and the role of antimicrobial resistance (AMR) in emerging disease threats.
“Animal health is equally important. We need to maintain them, track their movements, and do surveillance,” he said.
Dr Ganguly also warned that rising temperatures and shrinking boundaries between humans and animals could increase the risk of future infections.
“It is an environmental infection. With the rise of temperature, more hantavirus infections occur,” he told HealthandMe.
Calling surveillance one of the most critical tools in outbreak prevention, he urged India to strengthen monitoring systems for animals, vectors, and humans alike.
“We need to set up a dedicated surveillance for hantavirus in India, and we need to track hantavirus,” he said.
Dr Ganguly explained that to date, hantavirus cases in India have been detected accidentally during testing for respiratory infections or flu-like illnesses using advanced panel-based diagnostic systems.
“Like now these days, what happens is that when you are getting respiratory infection or flu-like symptoms, they put up a test system which is known as bio-fire or a thing like that which identifies 26 panels and gives the CT scoring of that, so from there, hantavirus emerged,” he said.
He added that India should strengthen surveillance tools and continue monitoring infections in animals, vectors, and humans alike.
Credit: Canva
Prateek Yadav (38), the son of late Samajwadi Party founder Mulayam Singh Yadav, died due to a massive blockage in the blood vessels of the lungs, leading to a collapse of the heart and respiratory system, as revealed in the postmortem examination report.
According to the autopsy findings, the provisional cause of death was recorded as “cardiorespiratory collapse due to massive pulmonary thromboembolism.” In simple terms, doctors said a large blood clot had blocked blood flow to the lungs, causing his heart and breathing to fail.
An embolism is any object (clot, fat, air, tissue) traveling through the bloodstream that becomes stuck, blocking blood flow. A thromboembolism is a specific type of embolism where that travelling object is a piece of a blood clot (thrombus) that has broken off from its original site.
It is a life-threatening condition that happens when a blood vessel in the lungs is blocked by a blood clot.
The common symptoms may include:
The blood clot starts in a deep vein in the leg and travels to the lung in most cases. Rarely, the clot forms in a vein in another part of the body, noted Mayo Clinic. When a blood clot forms in one or more of the deep veins in the body, it is called a deep vein thrombosis or DVT.
Other symptoms of pulmonary embolism include:
Also read: Your Desk Jobs May Impact Fertility, Not Just Waistlines, Say Experts
Meanwhile, Karnataka's Planning and Statistics Minister, D. Sudhakar (66), passed away after a prolonged battle with a lung infection.
The most common lung infections that people experience are pneumonia, bronchitis, tuberculosis, influenza-related infections, and severe viral illnesses.
Experts noted that these lung infections cause fluid or pus to fill the air sacs, which prevents oxygen from entering the bloodstream.
"What may initially appear as a routine cough, fever, or chest infection can progress to severe pneumonia, respiratory failure, sepsis, or permanent lung damage,” Dr. Vikas Mittal, Director - Pulmonologist, CK Birla Hospital, Delhi, told HealthandMe.
Warning signs include
Dr. Nikhil Rajvanshi, Consultant - Paediatric Pulmonology, Rainbow Hospital, Delhi, told HealthandMe that children may be more at risk of pulmonary infections as they can become dangerous quickly because their lungs and immune systems are still developing.
Common illnesses such as bronchiolitis, pneumonia, influenza, and other viral infections may rapidly lead to breathing difficulty, low oxygen levels, dehydration, and respiratory distress. Infants, premature babies, malnourished children, and those with asthma or congenital disorders are at higher risk of complications.
The experts called for
Credit: AP
US President Donald Trump's attempt to clarify the meaning of "sea" while discussing drug smuggling has again raised concerns of dementia.
While the 79-year-old President rambled between “sea and see” in the middle of discussing drug problems in the US, social media went rife with the rumor of his cognitive decline.
"Drugs coming by sea meaning coming by water. A lot of people don’t know what I mean by sea. They think I mean vision. I’m talking about sea like the sea," he said. He was speaking at the White House, while hosting law enforcement officials for a dinner in the Rose Garden in celebration of National Police Week.
His comments were called out by social media as his apparently worsening cognitive capabilities.
"When he says 'a lot of people' he means 'me.' His cognitive issues are a crisis," one social media user declared, while another admitted, "He’s getting worse."
Trump has spoken on sea and see, during a maternal healthcare event last week, where he also referred to himself as the “father of fertility.”
Earlier, speaking at the White House Small Business Summit, Trump said he has taken the Montreal Cognitive Assessment three times and “aced each one,” claiming a doctor told him it was the first time they had seen a perfect score, The Daily Beast reported.
The US President said he answered the test questions easily, suggesting he is cognitively in good condition—a claim that critics have repeatedly questioned.
“The first question is very easy,” he said. “You have a lion, a bear, an alligator, and a—what’s another good…? A squirrel. Which is the squirrel?” He added that the difficulty increases as the test progresses. “By the time you get to the middle, they’re very tough.”
However, the test’s creator, Canadian neurologist Ziad Nasreddine, has challenged Trump’s claims. “It wasn’t designed to be a test of IQ,” he told nine.com.au. “It was designed to assess normal cognitive performance.”
Read More: Fact Check: Can Ivermectin Help Treat Hantavirus?
A group of medical experts, including neurologists, psychiatrists, and other physicians, has sounded the alarm over what they’ve described as Trump’s deteriorating mental health.
The experts have not specifically examined Trump face-to-face. But, they analyzed Trump's statements and behaviors over the past year, and stated that he’s “mentally unfit” and must be removed from office “with the greatest urgency” amid the escalating tension around the world, according to their statement published in The BMJ.
“It is our professional opinion that they (Trump's statements) reflect a rapidly worsening, reality-untethered, increasingly dangerous decline,” the experts said.
They also listed some of Trump’s observable serious medical issues, such as “Marked deterioration in cognitive functioning, evidenced by disorganized and tangential speech, rambling digressions, factual confusions, unexplained sudden changes of course in strategic matters, both national and international, episodes of apparent somnolence during critical public proceedings.”
Read More:PCOD vs PCOS vs PMOS: Why The Condition’s Name Has Changed Over Time
What The White House Says
The White House has continued to say that Trump remains in strong health.
In October 2025, White House physician Captain Sean Barbabella said the president “continues to demonstrate excellent overall health,” AOl.com reported.
"President Trump’s sharpness, unmatched energy, and historic accessibility stand in stark contrast to what we saw during the last administration when Democrats and other lunatics intentionally covered up Joe Biden’s serious mental and physical decline from the American people,” White House spokesman Davis Ingle was quoted as saying to The Daily Beast.
© 2024 Bennett, Coleman & Company Limited