Credits: Canva
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.”

(Credit-Claire Dane/Instagram, Canva)
Claire Danes recently revealed that she was shocked to learn that she was pregnant with her third child at 44. In an interview with Amy Poehler in an episode of Good Hang with Amy Poehler, the Beast In Me actress revealed that she burst into tears at her OB/GYN’s office, explaining that she didn’t know it was possible to be pregnant after 40.
Danes shared that she initially felt a strange sense of embarrassment about the pregnancy. Because she and her husband, Hugh Dancy, weren’t planning for a third, Danes felt like she had stepped outside of normal "parameters."
The debate surrounding pregnancies after 40 has always persisted. Many people like Claire believe that it is impossible to get pregnant after your biological clock runs out. However, in reality, things do not work like that. Dr Rohan Palshetkar, Consultant IVF specialist, at Bloom IVF explains a few factors one should know about.
Yes, Dr Rohan explains that it is completely possible and safe with the current technological advancements. “Earlier we did have fetal medicine specialists, high resolution ultrasounds, better monitoring techniques and safter IVF options”
Screening tests are much more detailed, IVF options are more robust and egg freezing is also an empowering tool for women who wish to have pregnancies later in life, Dr Rohan explained.
However, he also pointed out that post 35 risks of having diabetes and hypertension increases, so consistent monitoring helps a lot.
The chance of having a high-risk pregnancy increases for women above 40, according to the American College of Obstetricians & Gynecologists (ACOG). They explain that since women are born with all the eggs they will ever have, those eggs age right along with the body. As time goes on, the number of eggs decreases, and their quality can change.
While many women have healthy pregnancies in their 40s, here are some specific risks you should know about.
Older eggs are more likely to have certain genetic changes. This means there is a higher chance for the baby to be born with a health condition like Down syndrome instead.
Women in their forties face a much higher statistical chance of losing a pregnancy. It is very important to stay in close contact with your doctor to monitor your baby's health.
There is a greater risk that the baby will be born weighing less than what is considered healthy. Small babies often need extra medical care and stay in the hospital longer.
Being pregnant naturally increases your risk of developing dangerous blood clots. However, this specific medical danger becomes even more likely for mothers who are over the age of thirty-five or forty.
This is a specific type of high blood sugar that some women develop only while they are pregnant. It requires careful diet management or medication to keep you and baby safe.
This is a very serious condition involving high blood pressure that can happen during pregnancy. It can be dangerous for the mother and the baby if it is not treated quickly.
Delivery can be more difficult for older mothers, often leading to longer labor times. Because of these complications, doctors are much more likely to recommend a surgical C-section birth instead.
Being "high-risk" doesn’t mean something will go wrong; it just means your medical team will watch you more closely. Modern medicine has great tools to keep you and your baby safe, such as,
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Neurology can sometimes be overwhelming because the nervous system touches almost every part of the body. This means, from memory to speech, to sleep and every sensation, all of them are part of neurology. So, naturally, neurologists deal with a vast range of conditions, including carotid artery disease, seizure disorders, Alzheimer’s and frontotemporal dementia, migraines and facial pain, Parkinson’s disease, muscle disorders, narcolepsy, and many others.
“If there’s a nerve somewhere, a neurologist could get involved,” says Dr. Andrew Dorsch, division chief for general neurology at Rush University System for Health and a specialist in neurologic rehabilitation, as reported by Times. “And there’s nerves everywhere in the body. There’s a lot that can go wrong, and figuring it out often takes real detective work.”
The problem is that many people ignore early neurological symptoms, because it looks like any other normal thing that could happen to anyone under immense stress. Here are 11 symptoms doctors say you should never ignore.
One overlooked symptom is a specific type of double vision that happens when both eyes are open and improves when either eye is closed. This is known as neurological diplopia and is different from eye-related vision problems.
Dr. Luis Cruz-Saavedra, a neurologist with Memorial Hermann Health System, told Times, this type of double vision can be linked to serious conditions such as multiple sclerosis, stroke, aneurysm, myasthenia gravis, brain tumors, or brain infections.
If double vision starts suddenly, it is an emergency. “Immediately,” he says. Doctors may check for stroke warning signs and order imaging such as a CT scan or MRI to identify the cause.
Subtle weakness is another symptom people tend to ignore. Dragging one foot, limping, dropping objects, or struggling to write with a dominant hand are all red flags.
“I see people come in months after symptoms begin,” Cruz-Saavedra says. Many assume it is a pinched nerve, but weakness can signal stroke, brain tumors, multiple sclerosis, or brain inflammation. Neurologists usually test strength, reflexes, balance, and coordination to narrow down the cause.
Some people suddenly stare blankly for a few seconds and then return to normal with no memory of the episode. These moments are often noticed by family members rather than the patient.
Cruz-Saavedra explains that this can be a sign of temporal lobe seizures, which affect areas of the brain involved in memory and emotion. People may describe it as losing a small chunk of time, which should always be medically evaluated.
Speech problems are among the most common warning signs of stroke, yet many people delay seeking care.
Dr. Enrique Leira, director of the division of cerebrovascular diseases at the University of Iowa, toles Times, stroke symptoms often appear suddenly. Speech may become slurred, slow, or difficult to understand. Some people struggle to find words or comprehend language altogether. In these cases, urgent medical attention is critical.
Most headaches are harmless, but some require immediate attention. A headache that strikes suddenly, feels unusually intense, and occurs during physical effort can indicate something serious, including stroke.
Leira says headaches that do not gradually build up and instead arrive abruptly should always be checked right away.
Dr. Dorsch says numbness commonly affects the feet or fingers and suggests that nerves are failing to send signals properly. This is different from tingling, which usually means nerve irritation.
Numbness may result from diabetes, autoimmune conditions, genetic disorders, or nerve damage. A full neurological workup helps determine which nerves are affected and why.
Occasional déjà vu is normal. Experiencing it repeatedly is not.
“If it’s happening regularly, that’s not typical,” Dorsch says. Frequent déjà vu episodes can be an early sign of temporal lobe seizures and should be evaluated.
Struggling to rise from a chair on a regular basis is not just about aging or stiff joints. Dorsch says neurologists want to rule out problems involving muscles, nerves, or the spinal cord, including Parkinson’s disease or amyotrophic lateral sclerosis.
Neurologists pay close attention to voice changes. Dr. Alexandru Olaru of University of Maryland St. Joseph Medical Center notes that an unusually soft or breathy voice may indicate Parkinson’s disease. Slurred speech can point to stroke.
Another concerning sign is a wet or gurgly voice caused by saliva pooling in the throat. This can occur in conditions like Parkinson’s disease, ALS, and multiple sclerosis.
Muscle twitches are common and often harmless. But when they occur repeatedly in the same location, they should be discussed with a doctor.
Olaru explains that these fasciculations may be benign or linked to conditions such as spinal stenosis, ALS, or autoimmune nerve disorders. Tests like electromyography can help identify the cause.
Abrupt shifts in behavior, including paranoia, withdrawal, impulsivity, or inappropriate behavior, can signal neurological disease.
Cruz-Saavedra says conditions like autoimmune encephalitis or frontotemporal dementia may show up as personality changes long before memory problems appear. New obsessive behaviors or hoarding can also be warning signs.
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Alcohol is often seen as harmful mainly for the liver or heart, but its impact goes much deeper—reaching down to our DNA. Even moderate drinking can silently cause changes at a cellular level, raising long-term health risks that may not be immediately visible. According to Dr. Amit Miglani, Director & HOD – Gastroenterology, Asian Hospital, the breakdown of alcohol in the body produces a toxic chemical called acetaldehyde, which can directly damage DNA inside our cells.
This damage disrupts the body’s natural repair mechanisms, allowing mutations to accumulate over time. Such mutations are linked to several cancers, including cancers of the mouth, throat, liver, breast, and colon. The insidious nature of this damage means that even when you feel healthy, harmful changes may be occurring beneath the surface.
DNA damage can be complex to understand, but its consequences are serious, explains Dr. Arun Kumar Giri, Director – Surgical Oncology, Aakash Healthcare. Normally, the body constantly repairs minor DNA errors. However, alcohol disrupts this repair process, leaving cells vulnerable to mutation and abnormal growth.
Dr. Giri adds that some people have genetic variations that make them break down alcohol more slowly. For these individuals, alcohol stays in the body longer, increasing the likelihood of DNA damage. Over years of repeated exposure, this can lead to uncontrolled cell growth and eventually cancer.
One of the most important points, Dr. Giri emphasizes, is that there is no entirely safe level of alcohol when it comes to DNA. The risk increases with both the frequency and quantity of drinking. Even occasional binge drinking can be harmful, meaning that how often you drink can be as important—or even more so—than how much you drink at one time.
This perspective shifts the discussion from asking “How much alcohol is too much?” to “How often am I exposing my cells to alcohol-induced damage?” Protecting DNA health requires regular monitoring and mindful drinking habits, even for those who feel healthy today.
Alcohol-induced DNA damage is not just a short-term concern. Over time, the accumulation of mutations can significantly increase cancer risk and other serious diseases. Regular health check-ups, a balanced lifestyle, and moderation, or complete avoidance of alcohol are crucial steps for safeguarding your genetic health and overall well-being.
Dr. Amit Miglani highlights that “It’s not just about the organs you can feel being affected today; it’s about protecting your long-term health, especially your DNA, for the future.”
Dr. Arun Kumar Giri advises, “Understanding the cellular impact of alcohol helps people make informed choices about their drinking habits. Even small changes can significantly reduce the risk of long-term damage.”
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