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.”

Vitiligo is an acquired disorder of depigmentation characterized by white patches on the body. It affects all races. There is a lot of stigma associated with the disease due to disfigurement. The affected persons suffer from psychological distress, low self-esteem, and social neglect. Inadequate knowledge and age-old misconceptions are the key reasons for this undue apprehension associated with this condition.

Common Myths About Vitiligo

There is a misconception that vitiligo can spread by contact. However, vitiligo is non-contagious and does not spread by contact.

Another misconception is that sour food causes vitiligo, which is not scientifically proven. It cannot be transmitted through contact, shared items, or proximity. It is not caused by bacterial, viral, or other infectious agents. It tends to be more noticeable in people with darker skin, due to higher contrast between affected and unaffected areas.

There is no significant variation in people of different races, religions, and socio-economic status for predisposition to vitiligo. There is another myth that vitiligo and leprosy are the same, as both present with white skin.

What Causes Vitiligo?

The exact cause is multifactorial, with hypotheses based on genetic—autoimmune, neural, and biochemical theories. There is a role of acquired factors like stress and infections in its clinical expression. It is associated with other autoimmune disorders like diabetes mellitus, alopecia areata, Addison's disease, and thyroid disorders.

The course of the disease is unpredictable. If you notice any skin discoloration, reach out to a dermatologist for early diagnosis and treatment.

What You Can Safely Do Around Someone With Vitiligo

Bust the myths about vitiligo with proper information regarding the condition.

• You can safely touch or hug someone with vitiligo
• You can share food, drinks, or utensils.
• Use the same towels, clothes, or bedding
• Swim in the same pool
• Live, work, or study in close quarters
• There is zero risk of transmission.

By proper public awareness, the social stigma associated with the condition can be debunked. A qualified dermatologist can diagnose the condition with medical history, Wood's lamp examination, and blood tests to rule out other autoimmune diseases.

There is no cure for vitiligo, but treatment to restore pigmentation and to prevent progression of the disease can be done. Counseling and support groups to help patients with this disorder can make a meaningful difference.

(Dr. Saji Firoz, Consultant, Dermatology & Cosmetology, KIMSHEALTH, Thiruvananthapuram)

Fentanyl is an FDA-approved, quick-acting narcotic painkiller that is nearly 100 times more potent than morphine and 50 times stronger than heroin. While it has important medical uses, widespread illicit use has created a public health crisis, with researchers now warning that commonly used addiction treatments are struggling to keep pace.

A study by researchers at the University of California, Los Angeles, found that people who regularly use illicit fentanyl consume opioid doses equivalent to morphine levels hundreds of times higher than the fentanyl doses used in hospitals—far beyond what current addiction treatment protocols were designed to address.

Published in the journal Drug and Alcohol Dependence, the findings suggest these extreme exposure levels contribute to high opioid tolerance, making medications for opioid use disorder (MOUD) less effective and increasing overdose risk.

Although methadone and buprenorphine remain highly effective at reducing overdose deaths, many patients have struggled to start and remain on treatment since fentanyl replaced heroin as the dominant illicit opioid in the US because of the severity of fentanyl withdrawal, the team said.

Daily Intake Far Exceeds Treatment Protocols

The researchers estimated fentanyl exposure using morphine milligram equivalence (MME), a standardized measure that compares the potency of different opioids.

The analysis combined purity data from more than 500 fentanyl samples collected by Drug Checking Los Angeles between September 2023 and January 2026 with surveys of 47 people who regularly used fentanyl.

The researchers estimated that participants consumed an average of 8,887 MME per day.

According to the US Centers for Disease Control and Prevention (CDC), just 2 mg of fentanyl can be lethal for an opioid-naïve person. The study found that the average fentanyl user in Los Angeles consumes roughly 60 times that amount each day.

Tolerance develops not only to the drug's intoxicating effects but also to the respiratory depression that causes overdose, said Dr. Chelsea Shover, associate professor in the Department of Health Policy and Management.

"Now, we find that people are regularly exposed to doses of opioids that would have seemed impossible to me before I started this work," Shover said.

"To put it in perspective, in hospital settings, fentanyl is often dosed in 100-microgram vials. One gram of average-purity fentanyl that we tested had a dose equivalent to more than 1,200 of these vials. So people are getting daily doses that are on par with injecting hundreds of the hospital vials or taking 440 Percocet pills."

Why It Matters for Addiction Treatment

According to the researchers, the potency and variability of illicit fentanyl mean that people are consuming opioid doses far beyond what existing treatment protocols were designed to manage.

"Of course, starting MOUD is going to be harder for fentanyl than it is for heroin," Shover said.

"This study is a great example of where our science was directly informed by lived experience. It is a call to take withdrawal management seriously, with adjuvant therapies, and compassionate approaches."

As a fully synthetic drug, fentanyl is cheaper and easier to produce than heroin. Its high potency also increases the risk of unintentionally consuming dangerous amounts, raising the likelihood of overdose.

"It's no longer, 'how do we treat someone who smokes a gram of fentanyl per day,' it's 'how do we treat someone using thousands of MMEs of oral morphine in fentanyl per day?' That question and its answers feel more accessible, less abstract to clinicians," Shover said.

Standard Treatment Guidelines May Need Updating

The study reinforces concerns among addiction experts that standard treatment regimens for opioid addiction may no longer adequately address patients with extremely high fentanyl tolerance.

Current doses of medications such as buprenorphine and methadone were originally developed to treat heroin and prescription opioid addiction. The findings add to growing calls from clinicians to update treatment guidelines to reflect today's illicit fentanyl market.

"When patients say their withdrawal is not being treated well, it's important to listen," Shover said.

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.