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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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We often reach for pills to soothe a headache, ease congestion, or help us drift off to sleep. Yet one experienced pharmacist believes that several everyday medicines tucked inside our bathroom cabinets may be causing more problems than they solve. Deborah Grayson, who has spent 13 years in pharmacy practice, has shared a firm warning about seven widely used treatments she personally avoids. Her concerns range from overpowering drowsiness that leaves people feeling disconnected to medications that can create a dependence over time.
Below are the seven products she is cautious about, along with the alternatives she suggests.
Codeine, sometimes sold in low doses mixed with paracetamol, is a strong opioid pain reliever. Deborah believes the danger of becoming reliant on it overshadows the intended relief.
She explained to the Daily Mail that opioid medicines convert to morphine inside the body and act on pain pathways to reduce discomfort, often bringing a warm, pleasant sensation that some describe as a mild “buzz.”
Her preferred approach for mild to moderate pain is sticking to paracetamol or ibuprofen. If those options fall short, she advises speaking with a doctor instead of moving to opioids.
Statins are prescribed to millions to help manage cholesterol levels, though debate continues about how effective they truly are for certain groups. Deborah said they should be used only when necessary, as people without clear risk may gain little benefit.
She noted that women may see even fewer protective effects, which raises concerns about whether many are being offered these drugs without enough consideration. Muscle aches, tiredness and possible liver irritation are recognised risks. She recommends having a detailed discussion with a healthcare professional to review whether another option may be more suitable.
Prescriptions for antidepressants in the UK have risen sharply. While these medicines are essential for many, Deborah believes that their long-term side effects and withdrawal symptoms can outweigh the positives for others.
She pointed out that access to cognitive behavioural therapy remains limited in an already strained health system, even though therapy may offer more lasting support for some patients. She added that antidepressants can cause nausea, headaches and sleep problems, and with long-term use may raise the risk of weight gain, diabetes and stomach bleeding.
Some people also develop sexual side effects, while withdrawal may bring dizziness, nausea, sharp shock-like sensations in the head, intense anxiety, irritability and disturbed sleep.
These medicines are often prescribed for nerve pain or fibromyalgia, yet Deborah feels that their side effects are not always fully explained.
She said they can lead to heavy drowsiness, poor balance, difficulty with concentration and memory issues over time, along with weight gain. Many people find the initial effects so overwhelming that they stop before any improvement is noticed, which may take several weeks.
Both medicines are controlled because of the possibility of addiction, and some users may develop both physical and psychological dependence.
Steroid creams are frequently used to manage eczema, psoriasis and other skin flare-ups. They are helpful in short bursts, although Deborah worries that many people continue using them far longer than advised because routine follow-up is often lacking.
Extended use may thin the skin and trigger painful reactions or infections. This creates a pattern where the discomfort returns, leading patients to reach again for the same cream, keeping them stuck in a cycle.
Proton pump inhibitors, such as omeprazole or lansoprazole, are among the most common treatments for heartburn and acid reflux.
Deborah views these as a quick solution that can cause long-term harm if people rely on them for too long. She explained that stomach acid is necessary for breaking down food and absorbing nutrients, and PPIs interfere with this process. This can leave the stomach struggling to digest properly and may contribute to nutrient shortages.
She encourages people to consider dietary adjustments and stress management instead of long-term dependence on PPIs.
Many people turn to laxatives for constipation, and with so many available without a prescription, it is easy to depend on them more than intended. While they work well for short-term relief, consistent use may cause the bowel to slow down.
Deborah warned that many people eventually struggle to go to the toilet without help from these products. Short-term effects can include cramps, diarrhea, nausea, bloating, and trapped wind.
For ongoing constipation, she suggests increasing fibre intake or using options that draw more water into the bowel, such as Fybogel (ispaghula husk) or Macrogol sachets.
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A recent study suggests that a person’s blood group could play a role in whether they are more likely to develop severe liver conditions. Although most of us link blood type only with transfusions or donor matching, scientists now believe it may also offer clues about long-term liver health.
A new study published in the journal Frontiers reports that individuals with blood group A have an increased chance of autoimmune liver disorders. In these conditions, the body’s own immune system mistakenly harms liver tissue, which can lead to ongoing damage and, in some cases, life-threatening liver failure.
The researchers also found that people with blood group B may have a slightly lower likelihood of certain liver-related concerns compared with those who have type A.
Scientists have long examined how inherited blood groups relate to different illnesses. Some earlier findings noted that individuals with non-O blood types (A, B, or AB) tend to show higher activity of certain clotting factors and other changes in the body.
These differences may affect blood flow in the liver. For example, past studies found slightly increased levels of a clotting protein called von Willebrand factor in people with advanced liver disease who had non-O blood types, although it does not appear to be a major driver of risk.
The latest research focused on autoimmune liver diseases such as:
Among these, autoimmune hepatitis showed a stronger link with blood group A. Blood group B appeared to carry a somewhat lower chance of PBC when compared with type A.
Several earlier studies explored the relationship between blood group and liver cancer (hepatocellular carcinoma or HCC). Older data and a large meta-analysis found that people with type O blood were under-represented among those with liver cancer, suggesting that type O may be tied to a lower risk overall.
Understanding your blood group can offer insight into potential health risks, though it does not mean you will certainly develop liver disease if you are type A or B. It remains only one part of a larger picture.
This may be especially important if you have blood type A or B and a family history of liver conditions. Routine health checks, liver screenings, and discussions with your doctor can help you watch for any early signs.
For now, it is clear that blood type is more than a simple classification, as it may hold useful information about future liver health.
Autoimmune liver disorders are uncommon, yet they can become serious when they are not spotted in time. A better grasp of the genetic and immune-related factors behind them can guide stronger prevention and treatment efforts. The authors of the study note that more research involving larger and more varied groups of people is needed to confirm these findings and to explain how different ABO blood types may influence the development of autoimmune liver problems.
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According to the International Diabetes Federation, roughly one in nine adults worldwide lives with diabetes, and around 90% of these cases are type 2 diabetes. There is currently no cure for type 2 diabetes. Still, the condition can be managed through healthy lifestyle habits, such as staying active, as well as medication. One widely used medication is metformin, considered a first-line therapy for type 2 diabetes, and it has been prescribed for decades since the Food and Drug Administration (FDA) approved it in 1994. Recent research, however, suggests it may also act directly on the brain, opening the door to new approaches to treatment.
Scientists at Baylor College of Medicine in the US have discovered a brain pathway that metformin appears to influence, alongside its known effects on other parts of the body. "It has been widely believed that metformin lowers blood sugar mainly by reducing glucose production in the liver. Other studies have also highlighted its action in the gut," says Makoto Fukuda, a pathophysiologist at Baylor.
As reported by Science Alert, the researchers explained, "We turned our attention to the brain, given its central role in regulating overall glucose metabolism. Our goal was to understand whether and how the brain contributes to metformin’s anti-diabetic effects."
Earlier research by some of the same scientists had pinpointed a protein in the brain called Rap1, which influences glucose metabolism, especially in a region called the ventromedial hypothalamus (VMH).
In their 2025 study, experiments on mice showed that metformin reaches the VMH, where it helps combat type 2 diabetes by essentially shutting down Rap1. When mice were genetically modified to lack Rap1, metformin no longer affected a diabetes-like condition—even though other medications still worked. This provides strong evidence that metformin acts in the brain through a mechanism distinct from other drugs.
The researchers also examined which specific neurons metformin interacts with. This could eventually pave the way for treatments that target these neurons directly. "We found that SF1 neurons are activated when metformin enters the brain, indicating they are directly involved in the drug’s effect," they said.
While generally safer than many other type 2 diabetes medications, metformin does have side effects. Gastrointestinal issues such as nausea, diarrhea, and stomach discomfort affect up to 75% of users. Other risks can arise when there are underlying conditions like kidney problems, which may compound health concerns.
Metformin is also recognized as a gerotherapeutic—a medication that may slow aging processes in the body. For instance, it has been shown to reduce DNA damage and support gene activity linked to longer life.
Previous studies indicate that metformin can also protect the brain from wear and tear and may even lower the risk of long COVID, according to Science Direct.
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