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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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Between climbing the career ladder, raising kids, and keeping everything else running smoothly, there's rarely a spare moment when women should stop and check in with their own bodies.
Yet these same demanding years are often when certain autoimmune and chronic conditions first start to surface. The early signs tend to be so mild and easy to explain away that most women simply put them down to stress, lack of sleep, or an overly full plate.
Some of the autoimmune conditions that commonly fly under the radar include:
· Lupus
· Rheumatoid arthritis
· Sjogren’s syndrome
· Systemic sclerosis
· Psoriatic arthritis
Family history matters more than most women realize. Autoimmune conditions often have a genetic component, and having a parent, sibling, or close relative with an autoimmune disorder meaningfully raises the likelihood of developing one yourself, even if the specific condition isn't identical. If this applies to a woman, the symptoms below deserve even closer attention and a lower threshold for seeking medical advice, rather than waiting to see if they resolve on their own.
So, when should women get it checked? If any of these symptoms stick around rather than passing after a good night's sleep, it's worth paying attention:
· Fatigue that doesn't go away no matter how much rest you get
· Joint pain or stiffness, especially in the morning
· Unexplained aches in your muscles
· Skin rashes or a new sensitivity to sunlight
· Sudden shifts in your weight or energy levels
It is advised not to dismiss them, particularly if they've been going on for a few weeks. Early detection changes everything. It is observed that the difference between a manageable condition and a complicated one often comes down to how soon it was caught.
Diagnose early, and treatment can be initiated before the disease has a chance to progress, allowing a patient to continue living life on her own terms, not one dictated by illness.
That said, the fundamentals of good health have never changed, and we continue to emphasize routine check-ups, a balanced diet, adequate sleep, regular physical activity, and sound stress management. But if there is one thing every woman should take seriously, it is to learn to listen to your own body.
You know it better than anyone else. If something feels different, do not dismiss it or wait it out; seek an opinion. Awareness combined with timely action is what ultimately allows a woman to lead a full, active life both professionally and personally, well into her later years.
(Dr. Chirag Rajkumar Kopp, Consultant - Rheumatology & Clinical Immunology, Ramaiah Memorial Hospital, Bengaluru)
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In June, X-Men actor and former professional wrestler Tyler Mane revealed that he had been diagnosed with a "super-rare" form of breast cancer. The disease is uncommon in men, accounting for only about 1% of all breast cancer cases.
Now, as he undergoes treatment, the actor is encouraging men to pay attention to their health, have open conversations about family medical history, and never ignore unusual symptoms.
As he lost weight, he noticed a lump in his breast. Initially, he did not think it was serious and had it removed. However, laboratory tests revealed it was invasive ductal carcinoma, the most common form of breast cancer.
Following the diagnosis, Mane underwent genetic testing, where he found that he carries the BRCA2 gene mutation. The mutation significantly increases the risk of developing several cancers, including breast, prostate, pancreatic and, in women, ovarian cancer.
The discovery also made him realize how little he had discussed health issues with the men in his family.
Although the cancer was caught early, doctors determined it was aggressive enough to require chemotherapy after surgery.
"I was lucky enough that my breast cancer was stage 1. Men usually don't notice the signs or don't quickly treat breast cancer. By the time it's diagnosed, it is often stage 3 or 4, metastasized throughout their bodies, and then it becomes a whole different thing," he wrote in an interview with Yahoo.
Mane explained that the tumor measured 28 millimeters and had a surgical margin of less than one millimeter, making additional treatment like chemotherapy and radiation necessary.
The actor added that genomic testing showed a high risk of recurrence without treatment.
Mane is currently undergoing four rounds of chemotherapy followed by localized radiation therapy.
"I'm being treated with four rounds of chemo, and then I have to have some localized radiation treatment to make sure the cancer is all wiped out."
While treatment has been challenging, he said it is essential. "And let me tell you: Chemotherapy is not fun. But it is a necessity."
He also describing its side effects such as 'metal taste' hair loss and fatigue.
"They give you some really good steroids for the day before, the day of and the day after chemotherapy. But then when that wears off, it all kind of hits you. You get the metal taste in your mouth. You feel sluggish and want to sleep all the time. My beard fell out. I look like a hairless cat with a couple of tufts on my face now".
The actor admitted he initially underestimated the impact chemotherapy would have on his body. He also realized he had pushed himself too hard physically in an effort to stay strong.
Now, he is focusing on maintaining his strength by increasing his protein intake while continuing moderate exercise.
"Physically, I'm trying to keep up my protein intake to help me stay strong throughout treatment."
Despite the challenges, Mane has continued a daily workout routine that includes push-ups, squats and rebounding exercises.
Through his public updates and the podcast Mane hopes to raise awareness that breast cancer is not exclusively a women's disease. By sharing his experience, he wants more men to recognize the symptoms early, discuss their family medical history, and seek medical attention without delay.
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A 27-year-old woman in US' state of Arizona suffered a cardiac arrest after using kratom, an over-the-counter supplement she purchased at a local gas station.
Amanda Goodsell, who had never taken kratom before, suffered a cardiac arrest after nearly a week of using the supplement and is now on life support, according to her family.
The mother of 3½-year-old twins tried the kratom gummies at the suggestion of her husband, Mike Goodsell, while seeking relief from persistent leg pain.
“Everybody knew what Kratom was. So I was like, well, okay, well, here, just take this. You could just buy it at the gas station. It’s not going to hurt you,” Mike Goodsell was quoted as saying to the media.
Nearly a week later, Mike found his wife unresponsive in their bed, and rushed her to the hospital, where she was placed on life support
“She like, was like red and her lips were blue, and she was foaming. So I like jumped out of bed. I grabbed her, and then (I) was trying to wake her up,” he said.
“They had to have her on a ventilator to help her breathe. And then they had to put her on a bunch of medications because her heart percentage was at 15%,” Mike added.
After spending two weeks in the hospital, Amanda Goodsell's condition began to improve. Although she has shown significant improvement, as per the doctors she will need a defibrillator and heart medication for the rest of her life.
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Kratom is a plant-based substance derived from the Mitragyna speciosa tree, native to Southeast Asia. Traditionally used in countries such as Thailand and Malaysia for pain relief and increased energy, it has gained popularity in the US as an over-the-counter supplement.
Kratom is sold in multiple forms, including powders, capsules, teas, drinks and gummies.
Although it remains legal in many parts of the US, the Food and Drug Administration (FDA) has classified kratom as a "drug of concern" and has not approved it for any medical use.
According to the Substance Abuse and Mental Health Services Administration's National Survey on Drug Use and Health, an estimated 1.7 million Americans aged 12 and older used kratom in 2021.
The substance, sometimes referred to as "gas-station heroin," is banned in at least eight US states—Alabama, Arkansas, Connecticut, Indiana, Louisiana, Tennessee, Vermont and Wisconsin. Several other states, including Iowa and Idaho, are considering restrictions or outright bans.
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According to a University of Virginia study, there were 43 hospitalizations linked solely to kratom in 2015. By 2025, that number had risen to 538. Researchers said the increase coincided with the emergence of highly concentrated synthetic products, including 7-OH.
The FDA has stated that kratom should not be used as a dietary supplement.
"Kratom is not appropriate for use as a dietary supplement. FDA has concluded from available information, including scientific data, that kratom is a new dietary ingredient for which there is inadequate information to provide reasonable assurance that such ingredient does not present a significant or unreasonable risk of illness or injury."
The agency has warned consumers not to use kratom because of the risk of serious adverse events, including liver toxicity, seizures and substance use disorder (SUD).
The FDA also notes that, in rare cases, deaths have been associated with kratom use, although these cases usually involved other drugs and the contribution of kratom remains unclear.
The agency is also aware of cases involving neonatal abstinence syndrome, in which newborns experienced withdrawal symptoms such as jitteriness, irritability and muscle stiffness following prolonged exposure to kratom during pregnancy.
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