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.”

When the name misleads, the disease remains misunderstood. Hence, endocrinologists now propose renaming PCOS as Polyendocrine Metabolic Ovarian Syndrome or PMOS.

This is because the term “Polycystic Ovarian Syndrome” is considered a misnomer. The name makes it sound like the condition is only related to the ovaries. However, over 30% of such patients have normal ovaries. The root lies in the hypothalamus, pituitary, adrenals, pancreas, and adipose tissue — truly polyendocrine.

The cysts in the name are actually antral follicles. The real burden is insulin resistance, dyslipidemia, NAFLD, and a 2-fold higher cardiovascular risk by age 50.

Not just reproductive: PCOS is India’s commonest endocrine disorder — 1 in 5 young women. It drives diabetes, hypertension, depression, and infertility.

PMOS, the acronym, expands as:

P — Polyendocrine: HPO axis + adrenal + insulin + leptin dysfunction

M — Metabolic: Insulin Resistance, obesity, fatty liver, CVD risk

O — Ovarian: Anovulation, hyperandrogenic ovarian dysfunction remains key

S — Syndrome: Heterogeneous, lifelong

This aligns with the 2023 International PCOS Guideline that defines it as a “metabolic + reproductive + psychological disorder”. Yet patients are still told, “You just have cysts.” PMOS reminds every physician to check OGTT, lipids, BP, and mental health at age 18, not 45.

The bottom line is that by changing the name, it is possible to change the game. When a 16-year-old hears “Polyendocrine Metabolic Ovarian Syndrome”, she understands it’s not vanity or infertility alone.

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

Importance Of One Health

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.

Need To Track Climate

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.

Why India Must Boost Surveillance

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.

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.

What Is Pulmonary Thromboembolism?

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:

• Difficulty in breathing
• Chest pain
• Cough up blood

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:

• irregular heartbeat
• lightheadedness or dizziness
• excessive sweating
• fever
• leg pain or swelling, usually in the back of the lower leg
• clammy or discolored skin

Also read: Your Desk Jobs May Impact Fertility, Not Just Waistlines, Say Experts

Lung Infection Claims Life of Karnataka Minister

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

• worsening breathlessness,
• persistent fever,
• chest pain,
• bluish lips,
• confusion,
• falling oxygen levels should never be ignored.

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

• early medical evaluation
• timely treatment
• vaccination
• good hygiene practices,
• quit smoking,
• maintaining immunity.