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.”

The internet is obsessing with the idea that Japan has a fat law, it fines people for being "fat". Talk about sensational headlines, mistranslations, and social media exaggerations. But what does Japan's so-called 'fat law' actually say? Does it really change anything?

Health and Me did a closer fact check on Japan's Fat Law, and here is what we found.

Japan's Metabo Law: What It Really Means?

In 2008, the Japanese Ministry of Health, Labour and Welfare introduced the Metabolic Syndrome Countermeasures Promotion Law, which was popularly nicknamed the 'Metabo Law'. the word 'metabo' comes from metabolic syndrome, a cluster of high-risk conditions that include elevated blood pressure, high blood sugar, abnormal cholesterol, and excess fat around the waist. If left untreated, this could increase the risk of heart attacks, stroke and diabetes.

The law's main focus is on identifying these risks as early as possible. As part of Japan's long-standing annual health check tradition, about 50 to 56 million adults aged 40 to 74 undergo this mandatory waist measurements every year. The waistline thresholds are:

• 85cm for men
• 90cm for women

While the numbers are not arbitrary, they match the International Diabetes Federation's guidelines used to screen metabolic risks.

Is It Illegal To Be Overweight In Japan?

The Times-Union fact check confirms: "Japanese citizens cannot be fined or imprisoned for being overweight". RosePlus Japan also reports that the term "fat tax is a mistranslation and that "it is not illegal to be fat in Japan".

The law does not:

• Fine individuals for their weight
• Send people to jail for being overweight
• Deport or deny visas based on size
• Ban obese people

How Does The Law Actually Work?

The law basically shifts the responsibility away from individuals to governments and employers.

Annual measurement: Employers and local authorities measure the waistlines of eligible adults.

If someone exceeds the limit:

• They are offered counseling, health guidance, and follow-ups.
• After three months, progress is reviewed.
• After six months, they may receive additional health education.

No individual penalties: There is no fine for not losing weight.

Employer penalties:

• If a company fails to reduce the percentage of employees at risk, it may face increased contributions to national healthcare funds.
• Companies like NEC previously estimated potential fines of up to $19 million for not meeting targets

This structure makes the Metabo Law more of a workplace wellness mandate than a personal weight regulation.

Lost In Translation

Much of the misunderstanding comes from how Japanese concepts were translated in English. With the word "law" being reported internationally, it implied a strict legal prohibition.

"Metabo" was incorrectly equated was being "fat", losing its medical meaning.

Was The Law Successful?

• Japan already had one of the lowest obesity rates in the world, around 3.5 percent in 2009, compared to over 30 percent in many Western countries.
• Life expectancy in Japan has remained among the highest globally.
• However, obesity rates among men (based on BMI 25+) reportedly continued rising, reaching 31.7 percent in 2022 according to The Japan Times, as cited in the HR Digest analysis

However, there have been things that changed since 2008. This includes companies offering nutrition workshops, physical activity support, health check programs for employees and their families. The annual health checks are now more structured. People flagged for metabolic syndrome were connected with counselling and monitoring, which can reduce long-term medical costs. The conversation has now also shifted towards body autonomy, public health and role of employers in personal wellness.

In a what doctors call an "exceptionally rare event', a Michigan man has died of rabies after receiving a kidney from a donor who was unknowingly infected with the virus. A recent report from the Centers for Disease Control and Prevention (CDC) gives information on how this rare medical event took place, with a surprising chain of exposures that vegan with a skunk scratch.

A Routine Kidney Transplant That Took a Sudden Turn

The Michigan patient underwent a kidney transplant at an Ohio hospital in December 2024. For several weeks, he seemed to be recovering normally. About five weeks after the procedure, he suddenly developed worrying symptoms such as tremors, weakness in his lower limbs, confusion and urinary incontinence. His condition deteriorated quickly and he was admitted to the hospital, soon requiring ventilation. Despite treatment, he passed away. Postmortem tests confirmed that he had rabies, a diagnosis that shocked doctors since his family said he had not been around any animals.

The Donor’s Skunk Encounter Comes to Light

The unexpected diagnosis pushed doctors to take another look at the kidney donor, a man from Idaho. In the Donor Risk Assessment Interview, he had mentioned that a skunk had scratched him. At the time, this detail did not raise major concern. When investigators spoke to the donor’s family again, they learned more about the incident. A couple of months before his death, the donor had been holding a kitten in a shed on his rural property when a skunk approached and behaved aggressively. He stepped in to protect the kitten and managed to knock the skunk unconscious. Before that happened, the animal scratched his shin deeply enough to draw blood. He believed he had not been bitten, and the incident was never viewed as a medical emergency.

The Donor’s Rapid Decline

Around five weeks after the skunk encounter, the donor began showing symptoms that closely resemble rabies. He became confused and had trouble swallowing and walking. His family said he experienced hallucinations and complained of a stiff neck. Two days later, he was found unresponsive at home after what was believed to be a cardiac arrest. He was resuscitated and hospitalized but never regained consciousness. He was declared brain dead after several days, and his organs, including his left kidney, were donated.

What Investigators Found

Once rabies was detected in the kidney recipient, authorities examined stored laboratory samples from the donor. These tests were initially negative. However, kidney biopsy samples revealed a strain that matched silver-haired bat rabies. This finding suggested that the donor had in fact died of rabies and unknowingly passed the virus to the transplant recipient.

Investigators believe a likely three step transmission occurred. A bat infected a skunk, the skunk infected the donor, and the donor’s kidney infected the recipient. The CDC noted that only three other cases of rabies transmission through organ transplantation have been reported in the United States since 1978.

Steps Taken to Protect Other Recipients

Three other people had received cornea grafts from the same donor. Once the risk was identified, the grafts were removed and all three individuals received Post Exposure Prophylaxis. They remained healthy and showed no symptoms.

A Reminder of Rare but Real Risks

Rabies is not routinely tested for in organ donors because human cases are extremely rare and difficult to diagnose. In this situation, the donor’s earlier symptoms were attributed to existing health conditions. Speaking to the New York Times, Dr Lara Danziger-Isakov said the case was exceptionally rare and reminded the public that the overall risk to transplant recipients remains very small.

Delhi continues to wake up to thick haze on Wednesday morning, with 28 stations in 'poor' category, while nine stations remained under 'very poor'. Though there is a slight improvement as the average AQI stood at 269, in poor category. The Chief Minister of Delhi has enforced stricter measures like imposing fines up to Rs. 5,000 for open burning, and use of coal and firewood.

Delhi pollution has now affected people way beyond their respiratory health, it has now attacked almost all organs of their body, including fetus, reproductive health, liver, kidneys, and even chronic diseases like diabetes, obesity, blood pressure, and even mental health illness.

But could Delhi do more? Right now all the measures, including emergency measures like GRAP have not worked more than a dent. However, China seems to have reverse its pollution problem.

What Did China Do That Delhi Too Can Adopt?

In 2013, Beijing was battling with pollution problem. As per the data by the World Health Organization (WHO), in 2013, the annual means of PM2.5 levels reached 64.9 micrograms per cubic meter, whereas, in India, it was at 58.2. However, by 2019, China was able to bring it down to 38.15 micrograms per cubic meter while India remained at 50.17.

So, what did China do?

Since 2013, almost 80% of China has experienced air quality improvement. Beijing declared a war on pollution by shutting 3,000 coal boilers, which slashed coal use by 30%. It also forced factory to either close or comply with the guidelines. Clean energy also replaced soot and electric buses replaced diesel ones. The subway was expanded to 1,000 kilometers and by 2020, 40% of new cars were electric.

Chin's 11th Five Year Plan That Made Pollution A Priority

In the late 2000s, China began taking air pollution more seriously than ever. As per the UCLA Law professor Alex L Wang, China's 11th FYP (2006-10) made pollution a priority and used the "cadre evaluation system". This pushed officials to meet environmental targets. The system evaluates governors, mayors, and local leaders based on how well they perform compared to others in tackling pollution problem, which influences their promotions.

To cut pollution, China invested heavily in cleaner technology and shut down old, highly polluting factories such as power plants, smelters, and chemical units. The government also encouraged the shift to electric vehicles. Even though much of China’s electricity comes from coal, EVs still produce fewer emissions overall and create no tailpipe pollution in cities.

By 2017, Shenzhen became the first city in the world to fully electrify its 16,000 buses. Shanghai too followed its lead.

Studies by Tsinghua University and the Beijing Environmental Bureau showed that between 2013 and 2017, major improvements in air quality came from reducing coal boiler use, cleaner home heating, shutting down polluting industries, and controlling vehicle emissions.

The result was nothing less than remarkable. From 2013 to 2017, Beijing’s PM2.5 levels dropped by 35%, and life expectancy rose by 4.6 years.