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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.”
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Amid a significant surge in H1N1 cases in India, experts say the flu can affect more than just the respiratory system—it can also cause eye symptoms.
H1N1, a strain of influenza A virus, is usually associated with fever, cough, sore throat, body ache, fatigue and other respiratory symptoms. It spreads mainly through respiratory droplets when an infected person coughs, sneezes or talks. However, influenza can sometimes affect areas beyond the respiratory system, including the eyes.
Some people may develop watering, redness, irritation, photophobia or dryness during a flu infection. While these symptoms may improve as the flu resolves, sudden changes in vision should not be ignored.
Speaking to HealthandMe, Dr. Sfurti Maan, Senior Consultant, Internal Medicine, Shalby International Hospital, said that in most cases, eye symptoms are mild and settle with appropriate care. One of the more noticeable problems is viral conjunctivitis.
“The eyes may become red and watery, with burning, irritation or mild discharge. More intense inflammation may cause swelling of the eyelids or conjunctiva,” the expert said.
A person may also develop light sensitivity or general discomfort in the eyes.
Another possible finding is a bright-red patch on the white portion of the eye. This is called a subconjunctival hemorrhage and can sometimes occur after severe coughing or vomiting.
Most H1N1-related eye problems are limited to conjunctivitis. However, rare cases of deeper eye inflammation, including uveitis, retinitis and optic nerve involvement, have also been reported. These complications are uncommon but can affect vision.
“If someone has influenza and develops persistent blurred vision, severe eye pain, marked sensitivity to light or a sudden drop in vision, that should not be treated as routine conjunctivitis. These symptoms need an eye examination,” Dr. Sfurti said.
Dr. Poninder Kumar Dogra, Senior Consultant, Ophthalmology at ShardaCare – Healthcity, said people with influenza should see an ophthalmologist if they experience:
Contact lens wearers may develop eye pain, redness and changes in vision. Contacts should not be worn, and an eye examination should be arranged until the eyes have been investigated and an ophthalmic practitioner says they can be worn again.
Fluid loss, dehydration and fever during the flu can cause dryness and discomfort. Various medications may also cause dry eyes.
Annual flu vaccination is one of the key ways to reduce the risk of influenza. Others include:
Dr. Sfurti advised people with flu symptoms to also avoid touching or rubbing their eyes, particularly with unwashed hands. If conjunctivitis is present, sharing towels, tissues, pillows or personal eye-care products should also be avoided.
“It is important not to panic just because H1N1 can affect the eyes. Serious ocular complications are very rare. The important thing is to recognise the warning signs. If there are only redness, watering and mild irritation, it is usually not a reason for alarm. But any significant change in vision deserves prompt medical attention.”
Dr. Poninder told HealthandMe that antibiotic drops or steroids should never be self-prescribed without seeing an ophthalmologist, as they can potentially delay diagnosis or affect the diagnosis of another condition.
Redness with a slight amount of discharge, discomfort or irritation with transient dryness that gradually resolves may not require an ophthalmologist referral. However, sudden loss of vision, intense pain, extreme redness and progressing inflammation should be checked.
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It usually starts small, a sting during a bowel movement, a smear of blood on tissue, an ache that feels like it will pass on its own. The instinct is to go for an old antiseptic ointment or a painkiller left over from something else. For a few days, it works. The pain eases, the bleeding stops showing up, and the natural conclusion follows, it's healed. Then, weeks or months later, it comes back. The same cream goes on, the same tablet gets swallowed, and the cycle repeats, each round quietly convincing the patient that this is something to manage rather than consulting a doctor.
That cycle is where the real cost shows up. Every round of self-medication is also a round of postponed diagnosis, pain, bleeding, or discharge gets suppressed instead of investigated, and a fissure or fistula that could have been caught and treated early is left to become chronic instead. It's a more common pattern than it should be: a 2025 study on haemorrhoidal symptoms found that only 30.8% of patients had sought medical advice at all, citing embarrassment and fear of invasive examinations as the main barriers.
An anal fissure is a small tear in the lining of the anal canal. Many improve with the right conservative care, soft stools, and medication suited to that specific case. What concerns me is when a patient keeps self-treating through repeated episodes. A fissure that keeps coming back usually means something underlying hasn't been resolved, however many times the symptoms have been calmed down.
Also read: Ulcerative Colitis vs Crohn’s Disease: 8 Key Differences Every Person Must Know
Another common mistake is assuming that recurring symptoms are caused by the same condition as before. A fissure two years ago cleared up with a certain cream, so when something similar happens now, the same tube comes back out. But recurring symptoms don't automatically mean the same condition has returned. Fissures, fistulas, and haemorrhoids can look remarkably alike from the outside, which is exactly why self-diagnosis is unreliable more often than people expect.
None of this means every twinge needs a procedure, or that patients should panic at the first uncomfortable day. Plenty of cases genuinely settle with timely, conservative management. The real skill is recognising when self-care stops being enough.
If pain, bleeding, swelling, pus, or discharge keeps returning or never fully clears, that's the signal to get it looked at, not medicated into silence again. A proper specialist assessment can pin down what's actually happening and whether the right next step is conservative treatment, medication, or a procedure.
For anyone dealing with a fissure or a fistula, the goal isn't just to make the symptom vanish for a while. It's understanding why it showed up in the first place. Temporary relief feels like progress, but it isn't recovery.
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Delhi-NCR is witnessing a sharp increase in seasonal influenza, with 1,777 confirmed H1N1 (swine flu) cases reported out of 2,392 total Influenza A cases.
According to data from the National Centre for Disease Control (NCDC), the corresponding period last year recorded just 229 H1N1 cases.
Several hospitals in the national capital have reported a significant increase in cases. However, so far there have been no reports of patients requiring ICU care or ventilator support.
“Delhi is fully prepared to deal with the present health situation. There is no shortage of beds, doctors, medicines or essential medical equipment, and every patient will receive timely and appropriate treatment,” health authorities said.
The Indian Council of Medical Research (ICMR) has confirmed that the current surge is not due to a new strain of H1N1 and has advised people to follow precautions rather than panic, PTI reported.
According to the apex research body, the Influenza A (H1N1) viruses currently circulating in India belong to the A/Missouri/11/2025 (H1N1)pdm09-like virus strain.
“These viruses belong to clade 6B.1A.5a2a, subclade D.3.1.1, and have been in circulation since 2025,” the ICMR said. “Seasonal influenza, including H1N1, is mostly self-limiting,” it added.
The ICMR said the influenza strains currently circulating in India are well matched with the vaccine strains recommended for the Northern Hemisphere.
For both egg-based vaccines and cell culture-, recombinant protein- or nucleic acid-based vaccines, the World Health Organization (WHO) recommends an A/Missouri/11/2025 (H1N1)pdm09-like virus.
HealthandMe spoke to experts to understand whether people should consider getting a flu vaccine amid the current rise in H1N1 cases and who should prioritise vaccination.
Doctors stressed that annual influenza vaccination remains an important tool to reduce the risk of severe illness, complications and hospitalization, particularly among people at higher risk.
“Since the 2009 H1N1 pandemic, H1N1 is no longer given as a separate standalone vaccine. The H1N1 strain is included in the regular seasonal influenza vaccine, whether trivalent or quadrivalent. Therefore, getting the recommended annual flu vaccine also protects against H1N1,” Dr Tushar Tayal, Associate Director, Internal Medicine, CK Birla Hospital, Gurugram, told HealthandMe.
The seasonal influenza vaccine is recommended every year for everyone aged six months and above. Doctors say vaccination is particularly important for:
The Indian Medical Association (IMA) advises that the inactivated influenza vaccine can be given to the above high-risk groups.
“The live attenuated influenza vaccine (intranasal spray) can be given only to persons aged 2-49 years (not to pregnant females),” as per the IMA.
“The H1N1 flu vaccine is typically administered annually before flu season, around October, as a single intramuscular dose at clinics, pharmacies or hospitals,” Dr Atul Gogia, Head, Infectious Diseases, Sir Ganga Ram Hospital, New Delhi, told HealthandMe.
For most adults and children aged over nine years, one dose each year is sufficient. However, children aged six months to eight years who are receiving the flu vaccine for the first time may require two doses at least four weeks apart. After the initial vaccination, one annual dose is generally sufficient.
In India, influenza vaccination is ideally taken ahead of periods when flu activity tends to increase, particularly during the monsoon and winter months. The vaccine is available through hospitals, clinics and vaccination centers.
With H1N1 cases currently rising in Delhi-NCR, people who fall into high-risk groups may particularly benefit from discussing vaccination with their doctor.
“While the shot drastically reduces hospitalizations and complications, its primary limitation is that it does not offer 100% protection against infection, nor does it cover non-influenza viruses. However, even if contracted, vaccination significantly softens the disease’s severity,” Dr Atul said.
Dr Tayal also explained that vaccine effectiveness can vary from season to season, depending on how well the vaccine strains match the influenza viruses circulating at the time.
According to Dr Tayal, annual vaccination can reduce the risk of severe influenza, complications, hospitalization and flu-related deaths. However, it does not provide complete protection against every respiratory infection.
The flu vaccine protects against influenza viruses, including H1N1, but does not prevent illnesses caused by other viruses or bacteria.
Along with annual vaccination, experts advised people to:
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