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.”

Unlike most serious medical conditions, where outcomes depend almost entirely on what happens inside a hospital, cardiac arrest is different in one important respect: the person with the greatest power to change what happens next is almost never a doctor. It is whoever is standing closest. The heart can be restarted. Brain damage can be prevented.

India records more than 700,000 cardiac arrest deaths each year. Across South Asia alone, an estimated 5.5 million cardiac arrests occur annually. What separates a death from a recovery is not the sophistication of the care that eventually arrives. It is what any individual knows to do in the minutes before it does.

Not a Heart Attack. Something Faster

Sudden cardiac arrest is frequently confused with a heart attack, but the two are different events. A heart attack occurs when a blocked artery cuts off blood supply to the heart muscle. Cardiac arrest is categorically different: the heart stops beating entirely, and with it, all circulation to the brain and body ceases. A person can have a heart attack and still have a pulse.

In cardiac arrest, there is none. Every minute without CPR or defibrillation reduces the chance of survival by roughly 10 to 12 percent. In India's major cities, an ambulance takes between 15 and 20 minutes to arrive; in rural areas, over 60 minutes. These numbers place the first line of response where it has always been: with whoever is already in the room.

Also read: Women’s Heart Health May Start Changing In Late 30s, Way Before Menopause

India's Distinct Risk Profile

The epidemiological picture in India has a distinctly local character. Data from South India show that the average cardiac arrest victim is 48 years old, predominantly male, and often without any prior diagnosis of heart disease. Lifestyle factors including physical inactivity, smoking, and alcohol consumption are consistent contributors, particularly among younger patients.

Perhaps most significant, 41 percent of autopsied patients with confirmed cardiac muscle damage showed no severe arterial blockage. Standard cardiovascular risk screening, designed primarily to detect blocked arteries, may therefore be missing a meaningful portion of those most at risk in India's population.

Also read: Why Are Heart Risks Rising Among Hispanic Adults? New AHA Report Points To Diabetes, Obesity & BP

The Most Solvable Gap

The most immediate opportunity lies not inside the hospital but in the space between a collapse and an ambulance. Only 1.3 to 9.8 percent of bystanders in India attempt CPR during a cardiac emergency, and fewer than 15 percent of urban Indians have received any formal training. These figures are the primary reason India's survival rate for out-of-hospital cardiac arrest sits below 2 to 3 percent.

CPR requires no equipment and no medical degree. Steady chest compressions from anyone nearby can sustain blood flow to the brain until professional help arrives. Schools, workplaces, residential societies, and places of worship each represent a real and scalable training opportunity.

Where public health frameworks establish the groundwork, private sector partners have the infrastructure to extend that reach across the country. This is precisely the kind of challenge that structured public-private collaboration is designed to meet.

The Opportunity Ahead

Cardiac arrest incidence in India is projected to rise by 30 percent over the next decade as diabetes and hypertension rates continue to climb. That is a known trajectory, which means it is also a manageable one. AI tools now predict cardiac arrest up to 24 hours in advance using routine ECG data, and these technologies are already being developed with India's specific healthcare constraints in mind. What those tools ultimately do, however, is buy time.

The biological window of the first few minutes will always depend on whoever first responds to the patient. The country's greatest lever is not a device or a drug. It is an informed bystander who takes immediate action.

The word dialysis can stir up anxiety and fear for many. It's often seen as a sign of life never being the same again or it's considered a "last resort. I see many patients every day who assume that dialysis is their only choice. In fact, dialysis is a life saving therapy which takes over some of the functions of the kidneys which are unable to perform them properly. Knowing about the dialysis that it will require in the future, how dialysis works, and whether it can be delayed or avoided will help you avoid unnecessary anxiety and make informed decisions.

The kidneys are incredible organs that constantly filter out excessive fluid, toxins and waste products from the blood and help to keep the body's electrolyte balance, blood pressure and red blood cell production in check. As kidney function decreases substantially, these functions are disturbed and allow the build-up of harmful substances in the body. Dialysis mimics some of these filtering functions, and works to keep a patient healthy when their kidneys no longer do so.

Dialysis is not started just because of a laboratory value as is often thought. Many people think that dialysis is meant as a next step when kidney function drops below a certain percentage. But it depends on the results of kidney function tests, symptoms, and fluid overload, as well as electrolyte problems and patient clinical condition. Some people with an advanced stage of CKD may be able to do just fine and have no indication of needing dialysis for months; others might need urgent dialysis in case their kidneys are failing very quickly or they develop very serious complications that put their life at risk.

The most frequent indications for initiation of dialysis are: very high potassium levels, symptoms of fluid overload such as breathlessness, nausea and vomiting caused by accumulation of toxins, confusion, extreme tiredness, loss of appetite or condition where the dialysis cannot be managed with medication alone. In these cases, dialysis is not a choice but a lifesaver.

Also read: When Cholesterol Isn't the Only Culprit: The Hidden Threat of Calcium in Arteries

How The Two Main Types Of Dialysis Work?

There are two types of dialysis: In hemodialysis, the blood is pumped through a dialysis machine that removes waste products and excess fluid from the blood and returns the cleaned blood to the body. It's typically done three times a week in a dialysis center, but a few patients have home dialysis as an option. The process is usually a four hour per session process.

Another option is peritoneal dialysis, which involves using the patient's own abdominal lining to filter the blood. The abdominal cavity is filled with a cleansing solution, waste products and excess fluid are carried in to the solution through a permanent catheter, and the solution is drained. This treatment is often available at home and can provide a patient with more flexibility and independence. Medical suitability, lifestyle, home support and patient preference will all influence the decision on whether to undergo hemodialysis or PD.

Also read: Cefepime: Antibiotic Used For Pneumonia, UTI Linked To Higher Death Risk In Adults

Can Kidney Disease Be Slowed Or Dialysis Delayed?

A major concern patients have is if they can avoid dialysis altogether. The answer is dependent on the cause of kidney disease and the timeliness of diagnosis. However, in many cases, the kidney disease is a progressive condition over many years and there is a chance to slow the progression of the disease with appropriate medical treatment and lifestyle changes. Well managed diabetes and hypertension, avoiding unnecessary pain killers like non-steroidal anti-inflammatory drugs (NSAIDs), healthy weight, salt reduction in the diet, smoking cessation and frequent visits to a nephrologist can have a huge impact on slowing the deterioration of the kidneys.

An early diagnosis is very important. Sadly, a major drawback about chronic kidney disease is that most of the time, people don't have any symptoms in the initial stages of the disease. People are often diagnosed when they have significant kidney damage already. Routine screening is particularly important for those with diabetes, hypertension, cardiovascular disease, obesity and a family history of kidney disease. A number of simple blood and urine tests can detect kidney disease before symptoms occur.

Acute Kidney Injury And Chronic Kidney Disease Are Different

It is also crucial to differentiate acute kidney injury from chronic kidney disease. Acute kidney injury can occur if the kidneys become severely dehydrated, if the body be

“It’s only because I use my phone so much” We all know the excuse. It’s true that texting too much or using your hand in a certain way when holding your phone can be irritating and temporary. But not all your symptoms are the screen’s fault! Symptoms like tingling, burning or pins-and-needles may be due to a pinched or irritated nerve.

When Tingling And Numbness May Point To A Nerve Problem

A familiar example of such a condition is carpal tunnel syndrome, wherein pressure gets on the median nerve at the wrist, causing finger and hand numbness and tingling of your thumb, index and middle finger as well as part of ring finger, which are usually felt mostly at nighttime, or when you’re using the phone for too long.

An alternative would be compression of the ulnar nerve leading to symptom production with the little and part of the ring finger. Remaining with a bent elbow for prolonged durations can lead to increased symptoms, for example if using a telephone.

Also read: Ozempic, Wegovy, Mounjaro and Zepbound May Fuel Rare Brain Disorder, Study Finds

The Problem May Actually Start In The Neck

The pain doesn't always come from the hand. We could have some irritation of the nerve from a little higher up, right to from the neck. Problems with the cervical spine can be referred around the neck, and down the arm and into the hand as pain, and tingling or numbness or weakness.

That’s why just cutting back on screen time won’t help if an nerve issue is also going on. A second common error is to let your numbness progress so much that the cause becomes obvious before looking for medical care. Initial symptoms often come and go after the amount of time your nerves are compressed and can be worse if your nerves are compressed while you sleep or play an activity. Eventually, if nerve compression worsen, your symptoms may occur more often and may be paired with a weakness of the hand, or problems with the more precise dexterity manoeuvres.

Also read: Scientists Grow Human Brain Tissue Inside Mice: Could This Help Cerebral Palsy, Epilepsy & Autism Research?

Dropping Objects Or Weak Grip Are Warning Signs

Warning signs People also need to be aware of early signs of damage like dropping objects; problems with buttoning a shirt; having weakened grip strength or feeling like your hand feels weak when you hold something tight; or an ongoing general weakness. Those should never be ignored. There can be a link with phones because you hold your hand in the one position when holding and looking at it for a while your wrist, your elbow, your neck. But the problem isn't necessarily the phone itself.

Whether it is a repetitive motion or it comes on from something that has already occurred such as finding out you have diabetes or even have an already injured and pinched nerve in your wrist or at your elbow or even at your shoulder. Some simple stretches, an altered grip, keeping your elbow bent at just about 90 degrees and trying not to bend your wrist way backward will all work to your benefit.

When Numbness Needs Medical Evaluation

If numbness continues or weakness is increasing, pain is intense, or the sensations spread from the neck into the arm, you may need to see a physician for further examination, including possible nerve conduction studies, imaging, or blood tests based on their findings.

Not all sensations or tingling in your hand are "phone related", although it might seem obvious. A perceived annoyance can occasionally be the start of significant nerve compression requiring evaluation.

By Dr. Nasli Icchaporia, Director Neurology, Sahyadri Super Speciality Hospital, Nagar Road, Pune - A network hospital of Manipal Hospital