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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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Recent reports of more than 7,000 people aged 18 to 25 testing HIV positive in Karnataka have put the spotlight on HIV among India's younger population.
The development has prompted the Karnataka government to expand HIV awareness, counselling, and voluntary testing initiatives across colleges. But the numbers raise a bigger question: are young people actually seeing higher HIV transmission, or are more infections simply being detected?
In an exclusive conversation with HealthandMe, Dr. Ishwar Gilada, President Emeritus, AIDS Society of India and a globally acclaimed HIV/STI/ infectious diseases expert, shed light on the recent trends and patterns of HIV cases in India in the last few years. He also explained the shifting nature of HIV awareness, sexual behaviour, testing and prevention in India.
According to the doctor, India's HIV epidemic initially showed a steady increase after the first cases were identified in 1986 until at least 2005. He said cases were static from 2005 to 2010 and even started going down till 2020. He said that we started seeing an increase again in the last five to six years.
The doctor attributed the sudden increase in cases to what he described as a “cohort effect” which is affecting people born around or after 2000.
He explains, "Cohort affects those who are born, whom we call millennium babies, who are born either in 2000 or after that. Millennium babies, who are now 20-25 are more vulnerable."
The doctor believes another reason could be that young people today were not exposed to the intensive HIV awareness campaigns that existed during the early 2000s.
He says, “They are vulnerable because high-profile campaigns for HIV awareness were there from around 2000 to 2005. After that, they stopped as improved HIV treatment started.”
Also read: Thailand’s HIV Cases Cross 550,000 In 2026; Over 25,000 Among 15–24s
The doctor said another important factor is the changing nature of sexual relationships and how people perceive risk.
“Earlier it was believed that if you frequent red light areas, you may pick up HIV from sex workers. But young people say that we don't go to red light areas.”
According to the doctor, this perception can be misleading because sexual contact can occur in many different settings like massage parlours where one may also have access to services related to sex work.
He also pointed towards sexual relationships involving multiple partners. He says that there is a lot of interpersonal sexual contact happening and without any commitment with unknown partners. He says, "They do not consider them either self or that person at risk.”
He also highlighted HIV risk among homosexual men. He says, "After Section 377 has been repealed, same sex among has become more frequent. They do not consider themselves to be at high risk because they think that they are not having sex with the female or a sex worker.”
The doctor also raised an interesting concern about growing awareness of HIV prevention medicines like PrEP and PEP.
“There is awareness about PEP, post-exposure prophylaxis, and pre-exposure prophylaxis. So what they started thinking even if we take a risk, there is a PEP available. If we have to take a risk, we can take a PrEP and we can have a medicine and then we can have sex.”
He also said people may selectively use prevention based on how risky they believe another person appears. The result, he said, is a potentially dangerous mismatch between perceived risk and actual risk.
The fear of being identified as someone living with HIV can become a barrier to diagnosis and treatment. For younger people, the problem can be even more difficult because they may live with their families and have little privacy. The doctor said society needs to recognise that HIV is now a manageable infection.
“Society has to accept that this is now infection, manageable, better than diabetes, better than many other diseases.”
He also argued that stigma is not confined to the public. “We have to blame medical community.”
He alleged that in healthcare, patients continue to get treated differently. He recalled a case involving one of his patients who was hospitalised.
He says, “One of my patients told me they wrote they had written HIV positive on my bed when I was hospitalised. So, if this is the way you are discriminating, that person won't be maintaining his anonymity of HIV that he did for 25 years.”
Also read: Tivicay: US FDA Approves Drug to Treat HIV In Newborns
The doctor identified HIV self-testing as one area where he believes India's programme could be strengthened. He says, “One of the flaws of the national program is home HIV testing kit is not allowed in the program. Though you can buy the home testing kit on Amazon,it is not available in the program. So marginalised people will not get tested.”
He also raised concerns about the price of commercially available kits. He says kits that cost Rs 700 to 800 must not priced more than Rs 100 to 200.
PrEP, or pre-exposure prophylaxis, was another area the doctor believes requires greater attention. “PrEP is not part of the national program,” he said, adding that PrEP has been approved in India but is not sufficiently integrated into the public programme. He said if this is fixed, people who are not aware of their HIV status will also try to find out.
One of the strongest messages the doctor gives is how HIV treatment has changed dramatically, but it is still stigmastised. He explained that treatment can also suppress the virus to the point where sexual transmission does not occur.
He says, “HIV treatment is so powerful that a person with HIV can stay alive for as much as the normal lifespan of any person in the.” But while treatment has transformed HIV medically, the doctor said society has not kept pace. “Currently, the major killer, if at all, we can call, is the stigma and discrimination.”
Another important point the doctor stressed is that HIV can remain clinically silent for years. But as the immune system becomes progressively weakened, the person becomes vulnerable to infections that would ordinarily be easier for the body to fight.
“Talking about symptoms, when virus multiplies initially, the person will have no symptoms. It takes two to four years, five or even 10 years' time. If you wait till you fall sick, then a lot of valuable time will pass.”
His message was therefore to test and start treatment before advanced immune damage occurs.
When asked about prevention, the doctor divided it into pharmacological and non-pharmacological approaches. He emphasised upon safe sex and reducing exposure to multiple sexual partners.
The larger lesson from his interview is that HIV prevention cannot depend on a single intervention. It requires testing, treatment, condoms, PrEP and PEP where appropriate, harm-reduction measures, awareness and, perhaps most importantly, an environment where people are not afraid to seek care.
India has made significant progress against HIV over the past several decades. The government has reported substantial reductions in new HIV infections since 2010, while the National AIDS Control Programme continues to focus on prevention, testing, treatment and reducing AIDS-related mortality.
But the Karnataka numbers have brought the concern of young people's vulnerability to infection. The biggest challenge is no longer simply whether HIV can be treated. It is whether people will get tested early enough, have access to prevention and treatment, continue taking their medicines, and be able to live without fear of being discriminated against.
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In my years as an orthopaedic surgeon, I have operated on thousands of joints, ligaments, and bones. And if there is one pattern I have seen repeat itself more consistently than any other, it is this: two patients can undergo the exact same surgery, performed by the same surgeon, using the same technique — and walk away with completely different outcomes. The difference rarely lies in the operating room. It lies in what happens afterwards.
Most patients walk into surgery believing it is the finish line — the hard part, after which everything else is just optional maintenance. Physiotherapy gets treated as something to fit in "if there's time" or "if it still hurts." This is one of the most damaging misconceptions in orthopaedic recovery.
Surgery fixes the structure. It repairs the torn ligament, replaces the worn joint, sets the fractured bone. But it does not, on its own, restore function. That has to be rebuilt — deliberately, gradually, under guidance. And that rebuilding is physiotherapy's job, not the scalpels.
The numbers bear this out. Across orthopaedic procedures, roughly one in five to one in three patients fail to reach their expected functional milestones, and inadequate rehab is consistently among the top reasons why — alongside pre-existing stiffness and delayed rehab starts. A technically flawless surgery, followed by a half-hearted recovery, routinely underperforms a good surgery paired with disciplined rehabilitation.
Three things happen to nearly every post-surgical joint, regardless of how well the operation goes. Muscles begin to atrophy almost immediately — the quadriceps around a knee can lose measurable strength within a week of reduced use, and rest alone does not reverse this. Only progressive, graded loading does, which is exactly what physiotherapy provides.
At the same time, as surgical wounds heal, the body lays down scar tissue. Left unmanaged, this tissue binds to surrounding structures, restricts tendon movement, and quietly steals range of motion — tightening further with time rather than loosening on its own. And joints that aren't moved regularly through their range begin to stiffen as the joint capsule tightens around them.
A joint essentially "learns" its new, restricted range unless someone deliberately and safely pushes it beyond that — which is precisely the judgment call a physiotherapist is trained to make.
Also read: Attention Ladies: More Than 5 Cups Of Coffee Linked To Lower Bone Density; Tea May Help
Healing and recovery are not the same thing. Biological healing — wound closure, bone union, tissue integration — largely happens on its own, on a fixed timeline. But functional recovery — strength, coordination, the confidence to move and bear weight normally — requires the tissue to be used correctly while it heals.
Left alone, the body defaults to protection. It guards the operated area, recruits other muscles to compensate, and avoids the very movements it needs to relearn. Patients typically drift toward one of two extremes: under-loading out of fear, or over-loading out of impatience. Physiotherapy is what calibrates that loading correctly, stage by stage.
There is also a less visible disruption that few patients are aware of — the connection between brain and muscle. Pain, swelling, and immobilisation can cause a structurally intact muscle to simply stop firing efficiently, because the nerve pathways that recruit it have gone quiet from disuse.
Left unaddressed, the body compensates by recruiting other muscles instead — which can look like recovery on the surface while quietly setting up problems in neighbouring joints. This is precisely what targeted neuromuscular re-education in physiotherapy is designed to correct — retraining the brain to activate the right muscle, in the right sequence, again.
The most common reason patients abandon physiotherapy early is what I call the "pain-free equals cured" mentality. Pain typically resolves well before strength, range, and control are fully restored — and once it's gone, patients read that as the finish line. Physiotherapy at that stage feels repetitive and effortful compared to the relief of simply feeling better, so motivation drops exactly when the harder, more important phase of rebuilding begins.
The long-term cost of this is real. In my practice, I regularly see stiffness that never fully resolves, chronic weakness that surfaces years later as instability or a limp, and compensatory strain in neighbouring joints — a hip overworking for an under-rehabbed knee, a shoulder overcompensating for a poorly recovered elbow.
Some of these cases eventually need a second procedure just to release stiffness that consistent physiotherapy could have prevented in the first place. These are not failures of surgery. They are failures of the recovery process that followed it.
Feeling fine and being fully recovered are not the same thing — and that gap is exactly where physiotherapy does its work. Pain is often the first symptom to disappear and the last thing to reflect what's actually happening inside the joint. Strength deficits, altered movement patterns, and residual stiffness can persist long after pain is gone, only to resurface later as instability, re-injury, or early joint wear.
Stopping physiotherapy because the pain has gone is a bit like stopping antibiotics because the fever broke — the underlying process isn't necessarily finished just because the most obvious symptom has resolved.
Surgery and physiotherapy are not two separate stages of treatment. They are two halves of a single continuous process, and the outcome is determined by both. Surgery repairs the structure. Physiotherapy restores the function. Patients who understand this going in don't just heal better — they move better, for years afterwards.
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GLP-1 drugs are set to become the “new statins of the world” and could transform metabolic health, said Wasim Hanif, Professor of Diabetes and Endocrinology at University Hospital Birmingham.
Speaking exclusively to HealthandMe, Prof Hanif discussed their growing use in obesity and diabetes, potential benefits, side effects and when patients should stop treatment.
Even as the NHS is rolling out GLP-1 drugs, including tirzepatide (Mounjaro), for severe obesity, Prof Hanif said their kidney and cardiovascular benefits could also reduce the healthcare burden.
NICE recommendations cover tirzepatide and semaglutide for obesity and type 2 diabetes, with recommendations also expected for obstructive sleep apnea and MASH.
“I think these drugs will have a huge impact. These are going to be the game changers in metabolic health. These are the new statins of the world,” he said.
The only caveat, according to him, "is the cost, especially in the West".
"The cost of these medications is too high, but the hope is that within the next couple of years, once they become generic, they'll be used even more,” the professor told HealthandMe, on the sidelines of an event organized by the BMJ Group in New Delhi.
The Professor explained that the drugs have evolved beyond GLP-1 alone:
Prof Hanif pointed to growing use in the US and resulting health benefits.
“The total amount that the companies made with the use of these drugs in the United States was 43 billion dollars. Now we are actually seeing, for the first time, the trends of obesity and diabetes coming down,” he said.
He added that cardiovascular benefits are also expected to have a major impact.
Prof Hanif said the drugs are producing major clinical improvements.
“For the first time in years I'm seeing my patients with diabetes achieve normal HbA1c once these drugs are used. Secondly, we are seeing weight losses we never imagined we would be able to get,” he said.
He also highlighted improvements in:
Recent research showed that GLP-1 drugs are showing benefits, even with lower doses. Prof Hanif said dosing depends on the condition and patient.
“For weight loss, yes, you need bigger doses, and that depends upon what your baseline weight is. So if your BMI is 40-45, you probably require a bigger dose, but if your BMI is less, you require a lesser dose,” he explained.
“For diabetes, you don't need the higher doses. With one milligram of semaglutide or five milligrams of tirzepatide, 80% of the patients get the decision,” he said.
“For cardiovascular protection, you don't need big doses. So it really depends upon — it's not that every person will need the topmost dose.”
Do these drugs have side effects? Prof Hanif said yes — but stressed that side effects occur with every medication. However, he pointed out to increasing "medical misinformation about GLP-1 drugs spreading rapidly through social media and websites in the US, Asia and India".
“Between 2007 and 2025, there were 1900 cases of pancreatitis reported or associated with GLP-1, with 19 deaths in the UK. Now how many patients were using these agents? Millions,” said Prof Hanif, who is also part of the board of the UK’s Medicines and Healthcare products Regulatory Agency (MHRA).
Comparing this with metformin, he added: “During the same period of time or even less, metformin caused 25 deaths.”
Prof Hanif said side effects associated with GLP-1 drugs do occur, but there are strategies to mitigate them.
“Hair loss is very — it does happen, but it's not that common. Loss of muscle mass happens, but it happens with any kind of weight loss.”
“There are mitigation strategies — how you do it.”
He also highlighted retinopathy, particularly among people with diabetes.
“We know if somebody's having proliferative retinopathy or having laser treatment, you don't use it. There are guidelines on that.”
He also warned against viewing GLP-1 drugs as lifestyle drugs, and buying them online and using them without appropriate medical oversight.
“So these drugs have to be used under medical supervision by people who know how to use these drugs, like any other drugs," Prof Hanif said.
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