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.”

Athletes who spend years training their bodies undergo remarkable physiological changes. Athlete's heart is one of them. It becomes stronger, more efficient, and sometimes even larger. This natural adaptation is known as athlete's heart, a condition that is completely normal in most cases but can occasionally resemble serious heart disease.

What Is Athlete’s Heart?

Understanding the difference between a healthy athletic heart and an underlying cardiac disorder is crucial, especially as awareness grows around sudden cardiac deaths in young athletes.

HealthandMe spoke to Dr. Ruchit Shah, Interventional Cardiologist at Saifee Hospital, Mumbai, who said, “If a person exercises too much, normally more than 60 minutes in most days of the week for a prolonged period of time, the body's need for oxygen and for blood to supply the oxygen rises significantly. This can often be seen in the very intense training regimens of competitive athletes. The heart muscle responds to this extra demand by getting "conditioned" and thickening with time.”

Just like skeletal muscles that get bigger and thicker and with training and exercise, the heart muscle can get bigger and thicker too.

Athlete's heart is usually characterised by a “conditioned heart rate”. People with athlete's hearts will now show symptoms or serious warning signs and thereby won't need a specific treatment for the condition.

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Common Signs Of Athlete’s Heart

Signs include:

• Slow resting heart rate (bradycardia)

• Mild enlargement of the heart on imaging

• Changes on an electrocardiogram (ECG)

• High exercise capacity with no symptoms

Athlete’s Heart Is Different From Cardiac Diseases

The expert also says that athlete's heart is different from serious cardiac diseases like cardiomyopathies, especially hypertrophic obstructive cardiomyopathy (HOCM).

He says, “HOCM is a serious disease, with heart muscle thickening also occurring and causing the left ventricular cavity to narrow. The left ventricle's outflow tract can also become obstructed from this excessive thickening. Athletes with HOCM have a risk of sudden cardiac arrest and death, unlike athletes with athlete's heart.”

An athlete‘s heart, by itself, is considered a benign physiological adaptation and does not require medical intervention.

However, it becomes important to investigate further if an athlete experiences:

• Chest pain during exercise

• Unexplained fainting

• Palpitations

• Shortness of breath out of proportion to exertion

• Reduced exercise performance

• A family history of sudden cardiac death or inherited heart disease

Ignoring these warning signs can delay the diagnosis of potentially serious cardiac conditions. Those who have an athlete’s heart must get periodic cardiac evaluation, do a temporary reduction in training if the diagnosis remains uncertain, and monitor when minor abnormalities are present.

Athlete's heart is proof of the body's extraordinary ability to adapt to sustained physical activity. For most athletes, it represents a healthy, efficient cardiovascular system rather than a medical problem. The challenge lies in distinguishing these normal adaptations from potentially dangerous heart conditions that can look remarkably similar.

Popular GLP-1 medications such as Ozempic, Wegovy, and Zepbound are well established for improving metabolic health, lowering blood sugar and promoting weight loss. These blockbuster drugs are also known to reduce the risk of conditions such as heart disease and type 2 diabetes.

Now, researchers are exploring whether these medications could also help slow biological aging and potentially increase longevity.

Study Explores Anti-Aging Potential

A recent US National Institutes of Health (NIH)-backed study, published in the journal Nature, found that Ozempic slowed biological aging in people living with HIV and lipohypertrophy, a condition in which fatty deposits develop under the skin.

People with HIV often experience accelerated aging because of the infection, making them an important group for age-related research, said lead author Dr. Michael Corley, associate professor of medicine at the University of California, San Diego's Stein Institute for Research on Aging, according to The New York Times.

Although the trial was preliminary, Dr. Corley said it "provided us an opportunity to say, hey, is there any signal here that warrants all the hype?"

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Can GLP-1 Drugs Slow Aging?

Experts believe the findings are promising, but stressed that more research is needed.

Dr. Nicolas Musi, director of the Diabetes and Aging Center at Cedars-Sinai, told NYT that because these drugs reduce the risk of diseases associated with aging, they could potentially improve lifespan as well.

"GLP-1 agonists decrease the incidence of diseases that are related to aging and are associated with decreasing life span. One would assume that they're also potentially going to increase life span and be beneficial for longevity," Dr. Musi said.

Researchers also point to the drugs' anti-inflammatory effects. Chronic inflammation is one of the biological processes linked to aging, said Dr. Thomas Blackwell, professor of general internal medicine at the University of Texas Medical Branch in Galveston.

However, scientists caution that there is currently no evidence showing that GLP-1 drugs provide longevity benefits for people who are already metabolically healthy.

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What Are GLP-1 Drugs?

Drugs such as Ozempic and Wegovy contain semaglutide, a GLP-1 receptor agonist, while Zepbound and Mounjaro contain tirzepatide.

These medications are approved for the treatment of type 2 diabetes, and some are also approved for chronic weight management.

GLP-1 receptor agonists work by binding to GLP-1 receptors in the body. This increases insulin production in response to food, suppresses glucagon—a hormone that raises blood sugar—and helps regulate blood glucose levels.

What Does GLP-1 Do in the Body?

GLP-1 (glucagon-like peptide-1) is a hormone naturally produced by the small intestine after eating. It plays several important roles in regulating blood sugar and appetite by:

• Stimulating insulin release from the pancreas.
• Suppressing glucagon secretion, which helps prevent unnecessary increases in blood sugar.
• Slowing stomach emptying allows glucose to enter the bloodstream more gradually.
• Increasing feelings of fullness (satiety), which helps reduce food intake.

On Doctors Day, along with celebrating the valuable contribution and role of doctors, it is also important to take a look at what goes on beyond operation theatres and surgical masks. Amid increasing instances of doctors seeking mental health support, we take a look at what is pushing doctors to seek mental health care.

Why Burnout In Doctors Needs To Be Addressed?

HealthandMe spoke to Neha Cadabam, Senior Psychologist & Executive Director, Cadabam's Hospitals, and Dr. Jagadeesh P.C, Senior Orthopaedic Surgeon and Robotic Joint Replacement at Kauvery Hospitals & Joss Center, about increasing burnout, stress, anxiety, and other mental health issues among doctors in various specialties.

Doctors face grueling work schedules that entail long work hours, demanding patient care, and constant vigilance to provide the best service.

Neha Cadabam explains, “Doctors are often expected to remain composed, resilient, and emotionally available regardless of the circumstances they face. However, the emotional demands at their profession can accumulate over time.”

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She also said that long working hours, repeated exposure to suffering and death, difficult clinical decisions, medico-legal concerns, workplace violence, and the constant pressure to avoid errors can create a significant psychological burden.

Dr. Jagadeesh P.C sheds light on how doctors in the orthopedics specialty face constant physical and emotional stress. He says that as orthopedicians mostly handle traumas and accidents, they undergo added stress due to emergencies and constant patient care.

He says, “Surgeons and physicians work in high-pressure environments where critical decisions need to be made quickly, often after long hours in operating rooms, emergency departments, clinics, and wards. The responsibility of restoring mobility, managing trauma cases, handling complications, and supporting patients through recovery can be deeply demanding.”

He also said that doctors frequently work through physical fatigue, irregular schedules, sleep deprivation, and the emotional weight of patient outcomes. In specialties such as orthopaedics, where many cases involve trauma, pain, disability, and long recovery journeys, the responsibility extends well beyond the operating theatre.

According to the experts, doctors are mainly seeking mental health care for:

• Emotional exhaustion

• Burnout

• Sleep disturbances

• Chronic stress

• Anxiety

• Compassion fatigue

Neha Cadabam says, “Many doctors find it difficult to acknowledge their own emotional struggles because medicine has traditionally valued endurance and self-sacrifice. Seeking help is often perceived as a sign of weakness when, in reality, it reflects insight and self-awareness.”

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A Look At Stark Reality

In a real-life case, a 38-year-old emergency medicine specialist sought mental health support after years of managing trauma cases, and long shifts led to burnout, anxiety, compassion fatigue and sleep problems.

After psychotherapy and stress management, the doctor reported improved sleep, reduced anxiety, and better work-life balance.

In another situation, a 45-year-old obstetrician and gynaecologist sought help for burnout, chronic stress, and anxiety caused by the demands of high-risk pregnancies, emergency procedures, and medico-legal pressures.

Therapy helped improve emotional wellbeing, sleep, and the ability to disconnect from work outside hospital hours.

Heal The Healers

Doctors are often seen as symbols of resilience, but the misplaced resilience is taking a toll on their mental health. Acknowledging that doctors experience stress, anxiety, and emotional fatigue is not commentary on their professionalism.

Dr Jagadeesh P.C says, “The well-being of doctors is closely linked to the quality of care they provide. As healthcare systems evolve, there is a growing need to create environments that support the physical and emotional well-being of medical professionals. On Doctor's Day, it is important to recognize not only the dedication of doctors but also the immense pressures they navigate every day while caring for others."

As conversations around mental health continue to gain exposure, experts say supporting doctors' psychological wellbeing should become an integral part of strengthening healthcare systems.