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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
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While it’s no secret that alcohol takes a toll on the body, particularly the liver, long-term health issues can arise even for light drinkers. This begs the question: how do Europeans seem to handle their booze so much better? Dr Harsh Vyas, a radiologist from Gujarat, recently tackled this on Instagram.
He compared two 37-year-old patients: an Italian who drinks regularly and an Indian teetotaler. Surprisingly, the Italian’s liver was in better shape than the Indian man’s, who was struggling with fatty liver disease despite never touching a drop of alcohol.
Here are some reasons he claims are the reason behind the massive difference between both men:
According to Dr. Vyas, the primary reason Europeans often appear to have a higher tolerance for alcohol than Indians is how their bodies process toxins at a molecular level.
Your body uses two main enzymes to break down alcohol. Think of them like a two-step cleaning crew which include Alcohol dehydrogenase (ADH) which converts alcohol into acetaldehyde, a highly toxic substance and Aldehyde dehydrogenase (ALDH) that converts that toxin into harmless acetic acid (vinegar), which the body can easily flush out.
In European livers, both enzymes usually work at peak efficiency. The toxic intermediate (acetaldehyde) is neutralized almost as fast as it is created. But in Asian populations, the activity of these enzymes is often lower. This means the toxic metabolites don't just pass through; they linger in the bloodstream for a much longer duration.
Because these toxins stay in the system of an Indian person longer, they cause more oxidative stress and inflammation. This explains why even a "teetotaler" in India might develop fatty liver from other metabolic factors (like diet or sugar), while a moderate European drinker might show less immediate liver damage - their genetics act as a more efficient "waste management" system.
Talking about food habits, Dr Vyas highlights a significant contrast between the Mediterranean-style habits common in Europe and the typical nutritional patterns found in India. He explains that Europeans generally benefit from a diet rich in complex carbohydrates, high-quality proteins, and healthy fats derived from sources like seafood and olive oil.
These nutrients provide the liver with the essential building blocks it needs for repair and protection against inflammation. In contrast, many Indian diets rely heavily on refined carbohydrates and often lack sufficient protein and healthy essential oils.
This high intake of refined sugars and flours can lead to insulin resistance, causing the liver to store excess energy as fat. Consequently, even an Indian teetotaler may develop a fatty liver due to these metabolic stressors, whereas a European's liver might remain more resilient despite moderate alcohol consumption because it is better supported by their overall nutritional intake.
Using his Italian patient as an example, the doctor noted a commitment to daily exercise lasting 30 to 40 minutes, supplemented by walking 5 to 6 kilometers every single day. This level of consistent movement is far less common among the Indian population, where regular workouts are often neglected.
Dr Vyas concluded that while even small amounts of alcohol remain toxic to the human body, the superior lifestyle of many Europeans, combined with genetic advantages, a nutrient-dense diet and high physical activity, creates a "buffer" that helps their systems compensate for the damage.
In contrast, the sedentary habits and nutritional gaps seen in many Indian lifestyles leave the liver far more vulnerable to disease, even in those who avoid alcohol entirely.
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Suicidal ideation refers to thinking about or planning one's own death. In simple terms, it involves thoughts of dying or formulating plans to end one's life. While it is not a formal medical diagnosis, it is a serious symptom that can lead to suicide.
Suicidal ideation is generally divided into two categories which include passive ideation, defined as thinking about death or wishing one were dead without a specific plan to act as well as active ideation, defined as formulating specific, elaborate plans to carry out the act.
The active ideation stage is particularly dangerous as it moves from merely thinking of suicide towards self-harm.
There is no single cause for these thoughts; rather, they are often the result of complex, overlapping factors. One therapist on Reddit shared a poignant perspective, describing the urge as an "act of mercy" from a tired mind.
She explained: "Suicidal parts are also deeply perceptive. They see suffering that others overlook. They recognize when other coping strategies are failing and, in their exhaustion, believe that the only mercy left is to stop everything altogether".
Common contributing factors include:
Early intervention is key. Some of the most common warning signs include:
Studies says we cannot stop our brain to forming such thoughts, noticing the signs early can prevent drastic outcomes. Support is available at both professional and personal levels. Here is what you can do if you are concerned about yourself or someone you know:
According to the National Crime Records Bureau (NCRB), India recorded 171,418 suicides in 2023. The data reveals that daily wage earners remain the most affected group, followed by students and young adults. Geographically, Maharashtra, Tamil Nadu, Madhya Pradesh, and Karnataka account for the highest share of these cases.
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34 children have been infected in North London due to a measles outbreak. Health officials have confirmed the outbreak from Enfield in laboratory tests. Doctors too have pointed that children were not fully immunized. Measles was earlier eliminated in the UK, however, the disease is making a come back with UK losing its elimination status. The World Health Organization (WHO) also announced the elimination status of UK based on 3,600 suspected cases in 2024.
Read: North London Measles Outbreak: 34 Cases Confirmed In Unvaccinated Children From Enfield
With the disease now making a comeback, the worry is real. Measles has a high transmissibility, and high measles immunity levels are required to prevent sustained measles virus transmission.
This is why herd immunity for measles could be easily breached.
It easily spreads from one infected person to another through breathes, coughs or sneezes and could cause severe disease, complications, and even death.
The most unique symptom or the early sign of measles in the Koplik spots. These are tiny white dots that look like grains of salt on red gums inside the cheeks that appear before the red rash starts to appear on a person's face and then the body.
Read: Measles Outbreak In UK: NHS Is Failing To Vaccinate Children, Warn Experts
Furthermore, the symptoms of measles are also characterized by the three Cs:
The progression of the symptom comes in two stages, first is the prodromal stage or Days 1 to 4, where one would notice high fever, cough, runny nose, red and watery eyes, sore throat, fatigue, and Koplik spots.
The second stage is called the rash stage or the days 5 to 10 or even more where rash start to appear on the hairline, and then it runs down the body. It lasts for several days and fades in the same order.
The first symptoms, notes the Centers for Disease Control and Prevention (CDC), appear 7 to 14 days after a measles infection. Often, it could also lead to ear infection, or even diarrhea. Though these complications happen in every 1 in 10 children or individual with measles.
In late 2023, measles outbreaks were reported in the UK, which led to a surge in cases in 2024. Vaccination uptake at the end of 2024 was 92% for the first dose, however, for the second dose, it was below 82%.
Dr Vanessa Saliba, consultant epidemiologist at UKHSA said, "Infections can return quickly when childhood vaccine uptake falls - measles elimination is only possible if all eligible children receive two MMRV doses before school. The NHS is making vaccination easier, including offering the second MMRV dose earlier at a new 18-month appointment to boost uptake and support elimination goals."
Read: UK Loses Measles Elimination Status: Why Is This Disease Making A Comeback?
She also noted that children and adults must get vaccinated as NHS also offers catch-up jabs.
Dr Baharat Pankhania, from the University of Exeter, as reported by the BBC said, "Measles is an infection that can be prevented by vaccine - and it's extremely concerning that in the UK we now have pockets of low or no vaccine uptake. We urgently need to remedy this situation." Pankhania also noted that there is a need to make the access to GPs easier, and for an effort that could immunize babies in their homes and counter wrong information around vaccine safety.
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