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.”

Blockbuster GLP-1 drugs, with semaglutide as the key ingredient, have shown promise in treating conditions ranging from diabetes and obesity to certain cancers.

Now, US researchers are set to test whether semaglutide can also help treat alcohol use disorder (AUD), particularly among veterans. AUD affects an estimated 400 million people worldwide, or about 7% of people aged 15 years and older.

The US Department of Veterans Affairs (VA) has announced a new clinical trial to evaluate the effectiveness of semaglutide in treating AUD and is aimed directly at benefiting Veterans.

"By exploring emerging treatment options like the use of a GLP-1 for AUD, we aim to expand the tools available to help Veterans take control of their health and recovery," said VA Secretary Doug Collins.

Currently, more than 400,000 US veterans have been diagnosed with AUD, while an estimated 11% of US adults are affected by the condition.

What Does the Trial Aim to Find?

Also read: GLP-1 Weight-Loss Drugs Show Promise for 17 Million With Binge Eating Disorder, Suggests Study

The study, called the Cessation or Reduction of Alcohol Consumption in Veterans (CRACV) trial, will enroll more than 600 veterans across 18 VA medical centers in the US.

Participants aged 18 to 80 with moderate or severe AUD will receive weekly injections of either semaglutide or a placebo for 24 weeks, followed by a safety follow-up period.

Researchers will assess changes in alcohol consumption, overall health, and quality of life to determine whether semaglutide could become a new treatment option for alcohol use disorder.

Oral Semaglutide May Help Reduce Heavy Drinking

Evidence is also emerging that GLP-1 medications may influence alcohol consumption. A Phase 2 clinical trial published in the American Journal of Psychiatry in July suggests that oral semaglutide may help reduce heavy and harmful drinking, even among people who are not trying to quit alcohol completely.

The trial included 50 adults with moderate to severe alcohol use disorder who wanted to reduce or stop drinking. Participants were randomly assigned to receive either daily oral semaglutide or a placebo for eight weeks.

The semaglutide dose increased from 3 mg per day during the first four weeks to 7 mg per day during the remaining four weeks.

Read More: GLP-1 Microdosing: People Are Experimenting With Weight Loss Drugs & What Do Experts Have To Say About It?

While semaglutide did not significantly reduce laboratory-assessed craving or the average number of drinks per day compared with placebo, it significantly reduced heavy drinking days.

Compared with participants receiving placebo, those taking semaglutide had fewer heavy drinking days during the final four weeks of treatment. They also consumed fewer drinks on drinking days and reported greater reductions in everyday alcohol cravings and alcohol-related negative consequences.

"It could represent a new treatment option for alcohol use disorder, particularly for those who have not benefited from existing medications, and may reduce alcohol-related health and social harms. Importantly, even reducing heavy drinking can lead to meaningful improvements for patients and families," said Joseph Schacht, PhD, professor of psychiatry at the University of Colorado Anschutz School of Medicine.

As many as 23 cases of young women aged below 35 suffering from heart-related problems in only a month (reported by the Indian Medical Association) have left cardiologists concerned. What were earlier considered symptoms of stress, anxiety, and hormonal imbalances such as chest pain, breathing difficulty, palpitations, unexplained fatigue, and giddiness are now not being taken lightly when they occur for a prolonged time or recur. They are being increasingly identified as cardiac-related problems even in young adults.

Lack of physical activity, improper diet, obesity, diabetes, high blood pressure, smoking, and continuous stress have been labeled responsible for these problems. Some women's conditions like PCOD and autoimmune diseases can also put them at a higher cardiovascular risk. Regular check-ups, monitoring of blood pressure, blood sugar, cholesterol levels, and timely check-ups for the heart whenever these conditions occur can help in detecting the problems at the earliest, thus initiating treatment and recovery effectively.

In today's times, management of complicated heart diseases in India has dramatically improved and achieved outcomes at par with global standards. Today, the management of very severe heart valve disease offers much in terms of percutaneous catheter-based solutions, which, alongside conventional surgery (performed according to a person's age, general health, and clinical profile), give improved outcomes. Early detection and management of heart diseases prevent major complications and restore an individual's quality of life.

Increased knowledge about heart health, early identification of symptoms, and immediate medical attention are very important to achieve successful results. The observance of preventive measures such as engaging in regular exercise, a healthy diet, sleep, managing stress, and conducting regular medical checkups helps in the prevention of heart problems. Early diagnosis and adequate treatment form the key factors for achieving the best heart health.

By Dr. Nagendra Singh Chouhan, Interventional Cardiologist at Medanta Hospitals, Gurugram

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."