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.”

Feeling breathless after climbing several flights of stairs or a session of strenuous exercise is usually considered normal.

But breathlessness that appears suddenly, happens frequently, or occurs during routine activities should never be dismissed as tiredness or lack of fitness.

When Is Breathlessness Concerning?

Breathlessness, clinically known as dyspnoea, can occur due to many reasons. Asthma, allergies, respiratory infections, chronic lung disease, and heart problems are some of the common possibilities. Anxiety, anaemia and obesity could also be driving factors.

In some cases, persistent or unexplained breathing difficulty may also be linked to more serious conditions, including lung cancer. The important thing is to understand when breathlessness needs medical attention.

HealthandMe spoke to lung disease experts - Dr. Sachin Kumar, Director of Pulmonology & Critical Care Medicine, Sakra World Hospital, Bengaluru, Dr. Sanjeev Kumar, Director & Unit Head of GI & HPB Surgical Oncology & Clinical Administrator, Surgical Oncology, Max Super Specialty Hospital, Dwarka, Dr. Ruchi Singh, HOD & Senior Consultant, Radiation Oncology, Asian Institute of Medical Sciences, and Dr. Ashwin Mallya, Uro-Oncologist and Robotic Surgeon, Sir Ganga Ram Hospital.

Dr. Sanjeev Kumar explains that breathlessness that gets worse during routine activities are major red flags. He also says that other symptoms like chronic cough, coughing up blood, tiredness, and others should not be neglected.

He says, "Pay attention if breathlessness is accompanied by chest pain or pressure, dizziness, fainting, unusual sweating, bluish lips or fingertips, or a feeling that you cannot get enough air. A persistent cough, wheezing, recurring chest infections, coughing up blood, unexplained weight loss or prolonged fatigue along with breathlessness also deserves medical assessment. A cough that does not go away or changes in a long-standing smoker’s cough should not be overlooked. Although these symptoms can have several causes, they can occasionally be associated with lung cancer and need appropriate evaluation."

He also said that changes in usual breathing capacity is also a red flag. He said that if you previously walked comfortably for 20–30 minutes but now have to stop frequently because you are breathless, this change should not simply be attributed to age.

Also read: Lung Nodule on CT Scan? Doctors Explain When You Should Worry

Risks Of Delayed Evaluation & Treatment

Dr. Ruchi Singh points to a worrying trend. She said that the initial symptoms of lung cancer are usually dismissed as routine, which leads to delayed evaluation and treatment.

She says, "One of the most concerning things we are tracking is how late many patients present. Because symptoms like persistent cough or breathlessness are so easily mistaken for pollution-related irritation or a lingering infection, people delay getting scanned."

She explains that earlier detection through low-dose CT screening in high-risk groups remains the best tool for improving survival, and awareness needs to catch up with how the patient's profile itself is changing.

Also read: Can Fitness Hide Lung Cancer? Why Even Active People Shouldn't Ignore Symptoms

Importance Of A Multidisciplinary Approach

Talking about how lung cancer could metastasize, Dr Ashwin Mallya explains that along with early evaluation, it is essential to adopt a treatment strategy

Dr Mallya said, "Although primarily a thoracic malignancy, lung cancer frequently extends beyond the chest. Adrenal metastases are among its most common distant manifestations, while renal metastases, though less frequent, are well recognised."

He added, "These patterns underscore the importance of a multidisciplinary approach, often bringing urologists into the care of patients with advanced disease."

Also read: 'I Wish Every Patient Knew This Before Their Lung Cancer Diagnosis'- Lessons From An Oncologist

Lung Cancer Is No Longer A Smoker's Disease

Giving a real-life example of how lung cancer is no longer a smoker's disease, Dr Sachin Kumar said, "A 50-year-old lady went to the clinic seeking a second opinion after being treated for "asthma" for several weeks. She complained of occasional breathlessness and a persistent cough. Despite inhalers, her symptoms continued. A simple chest X-ray revealed something entirely different: a massive pleural effusion (fluid around the lung). Further evaluation confirmed the underlying cause: *lung cancer that had spread to the pleura (the lining surrounding the lungs).

He added, "This case is a reminder that not every cough or episode of breathlessness is asthma. When symptoms persist or do not respond as expected, they deserve a fresh look. Sadly, lung cancer is no longer a disease seen only in older male smokers. In our own practice, we now diagnose around 2–3 new cases of primary lung cancer every three months, and nearly 40% of these patients are either women or people who have never smoked."

Kidney stones are no longer a disease seen only in middle-aged adults. Across urban India, nephrologists are witnessing an increasing number of young professionals developing kidney stones. Sedentary lifestyles, inadequate water intake, unhealthy dietary habits, obesity, and rising temperatures are all contributing to this growing problem.

It is estimated that nearly one in every ten Indians will develop a kidney stone during their lifetime, and almost half of these patients may experience recurrence if preventive measures are not adopted.

Why Are Kidney Stones Becoming More Common?

Kidney stones form when minerals and salts in the urine become highly concentrated and crystallize inside the kidneys.

Several lifestyle factors increase this risk:

• Drinking too little water

• Excessive salt intake

• Frequent consumption of processed foods and sugary beverages

• High intake of animal protein

• Obesity and sedentary lifestyle

• Diabetes and hypertension

• Prolonged exposure to hot weather causing dehydration

• Busy work schedules, air-conditioned offices, frequent travel, and ignoring the urge to drink water have become common contributors in urban populations

Also read: Adult Kidney Transplant Recipients Who Took COVID-19 Drug Remdesivir At Lower Risk Of Transplant Failure

Warning Signs

The symptoms depend upon the size and location of the stone. Small stones may pass unnoticed, while larger stones can produce severe pain. Common symptoms include:

• Sudden severe pain in the back, side, or lower abdomen

• Pain radiating towards the groin

• Burning during urination

• Blood in urine

• Increased frequency or urgency of urination

• Nausea and vomiting

• Fever with chills, especially if infection develops

• Persistent pain, fever, or difficulty passing urine should never be ignored, as these may indicate obstruction or infection requiring urgent medical attention

Also read: Why Dialysis Patients Should Check Their Fistula Every Day

Can Kidney Stones Be Prevented?

The answer is yes. Most kidney stones can be prevented through simple lifestyle modifications. The most important preventive measure is adequate hydration. Adults should drink enough fluids to produce at least 2–2.5 litres of urine daily, which generally requires about 2.5–3 litres of water per day, depending on climate and physical activity.

Other preventive measures include:

• Reduce salt intake

• Limit processed and packaged foods

• Moderate consumption of red meat

• Avoid excessive sugary drinks

• Maintain a healthy body weight

• Exercise regularly

• Control diabetes and high blood pressure

Contrary to popular belief, dietary calcium should not be avoided unless specifically advised by a doctor. In fact, normal calcium intake helps reduce oxalate absorption and lowers the risk of stone formation.

Modern Treatment Has Changed the Outlook

Fortunately, advances in technology have made kidney stone treatment highly effective and minimally invasive.

Small stones often pass with increased fluid intake, pain relief, and medications that relax the urinary tract. However, larger or obstructing stones require specialist treatment.

Current treatment options include:

• Extracorporeal Shock Wave Lithotripsy (ESWL): Non-invasive shock waves break stones into smaller fragments

• Ureteroscopy (URS): A thin endoscope is passed through the urinary tract to remove or fragment stones

• Retrograde Intrarenal Surgery (RIRS): Flexible laser technology allows treatment of stones inside the kidney without any external incision

• Percutaneous Nephrolithotomy (PCNL): Recommended for large or complex kidney stones through a small skin incision

• Compared with conventional open surgery, these procedures offer higher success rates, less pain, shorter hospital stays, and faster recovery

The Take-Home Message

Kidney stones are becoming increasingly common but are largely preventable. Adequate hydration, healthy dietary habits, regular exercise, and timely medical evaluation can significantly reduce the risk. Those who have already developed one stone should undergo metabolic evaluation and follow preventive advice, as recurrence is common.

Early diagnosis and timely treatment not only relieve pain but also protect kidney function and improve long-term health.

Many people assume that if they exercise regularly, eat healthy, and stay active, they are naturally protected from serious illnesses like lung cancer. It is a comforting belief but unfortunately, it is not entirely true. While a healthy lifestyle lowers the risk of many diseases and improves overall well-being, it does not make anyone completely immune to lung cancer.

This misconception often leads to another problem: delayed diagnosis. When someone who has never smoked or is physically fit develops a persistent cough, unusual tiredness, or breathlessness, they may dismiss these symptoms as a lingering cold, seasonal allergies, or simply overexertion after a workout. Family members may do the same, assuming that someone who looks healthy couldn't possibly have a serious lung condition. As a result, valuable time may be lost before medical help is sought.

Being Fit Doesn't Eliminate Lung Cancer Risk

Some forms of lung cancer, especially adenocarcinoma, develop in the outer parts of the lungs, where they may grow silently for months before causing noticeable symptoms.

Also read: The 'Safer Than Smoking' Myth? Doctors Warn Vaping May Carry Its Own Lung Cancer Risks

Warning Signs That Should Never Be Ignored

One of the challenges is that active individuals often have better lung capacity and stamina, allowing their bodies to compensate for early changes. This can make the warning signs subtler in the beginning.

A persistent cough, breathlessness during activities that once felt easy, unexplained fatigue, chest discomfort, hoarseness of voice, recurrent chest infections, coughing up blood, or unexplained weight loss should never be ignored, especially if these symptoms last for more than two to three weeks.

Also read: Bryan Johnson's New 2.6M Women's Health Project Centers on Girlfriend's Menstrual Blood

Early Detection Can Save Lives

The encouraging news is that early detection can make a significant difference. Recognizing persistent symptoms and seeking medical evaluation promptly can lead to earlier diagnosis, when treatment is often more effective. Depending on an individual's symptoms and risk factors, a doctor may recommend investigations such as a chest X-ray or CT scan.

Staying physically active remains one of the best decisions a person can make for their health. Exercise strengthens the heart, improves lung function, and reduces the risk of several chronic diseases.

But fitness should never create a false sense of security. The body has its own way of asking for attention, and listening to those signals no matter how healthy a person feels can sometimes be the most important step toward protecting long-term health.

By Dr. Jayesh Prajapati, Senior Consultant Surgical Oncology, Sterling Hospital, Ahmedabad