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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.”
Frequent heartburn is far from normal; doctors recommend getting it checked timely to rule out cancer. (Photo credit: AI generated)
Most people treat heartburn the way they treat a bad day: they reach for an antacid and move on. But for some patients, that familiar burning sensation is not just a digestive nuisance. It can be an early sign of something far more serious. A type of cancer called gastroesophageal junction (GEJ) adenocarcinoma develops quietly at the point where the food pipe meets the stomach, and it is frequently mistaken for routine acidity—until it is not.
Dr Ankit Jain, Senior Consultant, Medical Oncology, at Indraprastha Apollo Hospitals, in an interaction with Health and Me, spoke about the difference between cancer and heartburn symptoms.
The gastroesophageal junction is simply the meeting point between the oesophagus and the stomach. When stomach acid repeatedly irritates this area over months or years, the lining can begin to change at a cellular level. This change, known as Barrett’s oesophagus, is a precancerous condition that often develops silently in people with chronic acid reflux. If left undetected, it can progress to GEJ adenocarcinoma. The tricky part is that this cancer does not behave exactly like oesophageal cancer or stomach cancer. It sits between the two, and that makes both diagnosis and treatment more nuanced.
Heartburn is common across India, yet certain symptoms should not be brushed aside as routine acidity. If any of the following are present, a doctor’s visit should not be delayed:
These are not panic triggers; they are signals worth investigating promptly.
For patients over 40 with long-standing reflux, obesity, a smoking history, or a family history of upper digestive cancers, a baseline endoscopy is a reasonable and potentially life-saving step. GEJ adenocarcinoma caught early is far more treatable than the same cancer found at an advanced stage. The window for early detection exists, but it requires action before symptoms become severe. Persistent reflux deserves more than a repeat prescription. Sometimes, it deserves a closer look.
Credit: AI generated
India is taking significant steps to enhance its vaccination strategy, with a special focus on adults, particularly those aged 55 and above, said Dr. N K Arora, Member of the National Technical Advisory Group on Immunisation in India (NTAGI), as part of the World Immunization Week.
NTAGI is the highest advisory body on immunization in the country, which consists of independent experts who provide recommendations on vaccines after reviewing data on disease burden, efficacy, and cost-effectiveness of vaccines.
In an exclusive interaction with HealthandMe, Dr. Arora shared that the country “is in the process of establishing priority pathogens and vaccines aimed at the adult population”.
This initiative will target those above the age of 55 or 60 to tackle infections that are particularly serious in older individuals, especially those living with chronic conditions like diabetes, hypertension, and cancer.
“The process has started. This year, we will be moving in that direction,” said Dr. Arora.
The expert lauded the introduction of the HPV vaccine for young girls. Dr. Arora highlighted the critical importance of this initiative, given India’s status as the country with the highest number of cervical cancer cases globally.
"Cervical cancer is preventable by the HPV vaccine, and we are now in the fortunate position of having a domestically manufactured vaccine," he explained.
The first round of vaccinations has already commenced, and Dr. Arora urged the media and public to dispel any misinformation surrounding the vaccine to ensure its success.
Further, the vaccine expert highlighted the potential introduction of an indigenous dengue vaccine, currently undergoing trials.
“The trials will take at least two and a half years, which means by the end of 28, we will have the results,” Dr. Arora said.
He emphasized the severity of dengue when it turns from a mild illness into a severe one, particularly among young adults.
The dengue vaccine, being developed indigenously, is expected to play a crucial role in protecting the 10-20 age group, who are most susceptible to severe dengue cases.
“We are waiting for the results of the trials, and once the vaccine is recommended by the NTAGI, the system will be ready to adopt it,” said Dr. Arora.
Dr. Arora stated that India, known as the pharmacy of the world, is playing a significant role in the global vaccine landscape.
“One feels very proud to be an Indian as every vaccine administered in India is made in India,” he said, noting that India also "provides two-thirds of the global vaccine supply".
This achievement positions India as a global leader in vaccine research and development, contributing substantially to global health initiatives.
"These initiatives are vital for the future of public health in India," Dr. Arora said.
Credit: AI generated image
Amid rising cases of measles in neighboring countries, India is concerned, and steps are being taken to ward off any potential outbreaks in the nation, said Dr NK Arora, Chair of the National Verification Committee (NVC) for Measles-Rubella Elimination in India.
In an exclusive conversation with HealthandMe, the expert emphasized the growing concerns over the spread of measles, particularly following outbreaks in Myanmar and Bangladesh.
He noted that in the case of polio, India is free, and fortunately, neighbors like Nepal, Bangladesh, Bhutan, and even Myanmar are all polio-free.
“But measles is something which we are worried about,” Dr Arora said.
"We are aware of outbreaks in Myanmar, particularly among the Rohingya population, and the subsequent spread to Bangladesh, where there has been a large-scale outbreak with numerous fatalities," he added.
As per official data, Bangladesh has recorded 227 child deaths since March in one of its worst outbreaks of measles in decades, with the number of suspected cases reaching nearly 35,000, AFP reported.
Dr Arora pointed out that the porous borders India shares with Bangladesh make the risk of cross-border transmission higher, particularly given the large movement of people between the two countries.
To counter this, the expert mentioned that India has strengthened surveillance in states bordering Bangladesh, like Tripura, Manipur, and Meghalaya, but also admitted that more efforts are needed.
Meghalaya’s state health department have called for stepping up surveillance in East Khasi Hills District. Similarly, Health officials in Tripura are also assessing the prevailing measles and rubella situation, with a focus on vaccination coverage and containment measures. The health officials have stressed to strengthen surveillance, early detection, reporting, and response mechanisms.
Also read: Measles Again On The Rise Globally: Is India At Risk?
Notably, Nepal has also reported at least four outbreaks of the deadly viral disease —one in Sarlahi and three in Baglung—since the start of 2026.
"If even one case of measles comes in, it can spread quickly due to the virus's high reproductive or transmission dynamics. A single infected child can spread the virus to up to 12 to 18 others very quickly, which is extremely worrisome," he explained.
Dr. Arora stressed the importance of identifying suspected measles cases early, which he defined as any child with fever and rash.
"While these symptoms could indicate other diseases too, it's crucial to have a sensitive definition to quickly detect measles cases.
Once a suspect with fever and rash is identified, samples are promptly sent to the lab for confirmation, and immediate alerts are issued," he told HealthandMe.
Dr. Arora also addressed the ongoing efforts to eliminate measles and rubella in India, which have been bolstered by targeted interventions and public awareness campaigns.
Since the beginning of the year, India is seeing sporadic outbreaks of measles. Madhya Pradesh's Gwalior reported three outbreaks, and Morena six.
Over January and February 2026, 41 children were diagnosed with measles in Tikari village in Madhya Pradesh.
However, swift action by health authorities with proactive frontline engagement and data-driven rapid response prevented an escalation into large measles outbreaks.
"Our goal is to prevent any deaths from measles, which in today's time, should be entirely avoidable," said the Chair of the NVC.
Referring to increasing child deaths due to the highly infectious disease in Bangladesh, he said: "If a child dies from measles, it indicates a significant gap in the quality of care provided."
Further, Dr. Arora explained that measles complications such as severe pneumonia, sepsis, and meningitis are of particular concern, as these can be exacerbated by weakened immunity following other illnesses, such as malaria. Therefore, he emphasized the need to improve the quality of care and ensure timely and effective treatment for affected children.
Read more: Robert F. Kennedy Jr. Denies Link To Measles Outbreak At Senate Hearing
What is Measles?
Measles is one of the world's most contagious diseases, according to the World Health Organization (WHO), and is spread through coughs and sneezes.
The vaccine-preventable disease can affect people of any age but is most common among children, and can cause complications that include brain swelling and severe respiratory problems.
Symptoms typically appear seven to 14 days after exposure and may include:
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