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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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IVF is often regarded as a medical milestone defined by protocols, cycles, and success rates. Over time, it has also come to be understood in a more holistic way, where clinical care and patient experience carry equal significance.
This is especially relevant today, as many patients begin IVF while managing demanding work environments, prolonged screen exposure, and irregular rest patterns. Given how closely reproductive health is linked to hormonal balance, lifestyle naturally becomes part of the broader care context. Which is why IVF care today is not only about clinical precision and outcomes, but equally about how supported, steady, and manageable the overall patient experience feels.
Here are ways to improve the IVF patient experience:
Evening screen exposure can interfere with melatonin production, affecting sleep quality. Reducing screen time before bed and allowing a wind-down period helps regulate sleep cycles and supports hormonal stability during treatment.
A standard IVF cycle involves a series of hormone injections administered over a defined timeline. Depending on the protocol, this can range from 20 to 40 injections in a single cycle. In India, where an estimated 300,000 to 350,000 IVF cycles are performed annually, this represents a significant physical and emotional load for patients. While these injections are necessary, it can be helpful to explore less invasive options such as needle-free injection systems. These systems use controlled pressure to deliver medication without a needle and may help reduce some of the discomfort associated with repeated injections. During IVF treatments, N-FIS, the needle-free injection device, has, in my observation, helped transform patient experience substantially.
Using the latest technological developments in drug delivery has eased the overall treatment experience completely; it has helped patients stay more comfortable and consistent throughout the IVF journey.
Sleep plays a direct role in hormonal regulation and recovery. During IVF, maintaining a regular sleep schedule becomes particularly important.
It is not only about getting enough hours of sleep, but also about maintaining rhythm and quality. A calm pre-sleep routine and a stable sleep environment can help the body respond better to treatment.
IVF does not require extreme lifestyle changes. It responds better to consistency than intensity. Light physical activity, such as walking or yoga, can help manage stress and support circulation. A balanced diet and adequate hydration further help the body maintain stability through hormonal changes.
The focus should remain on habits that are realistic to sustain, not idealized routines that are difficult to maintain under stress.
IVF is a medically intensive process, but for patients, it is also a deeply personal one that unfolds alongside everyday responsibilities.
Improving the experience does not always require large interventions. Often, it comes from small, practical adjustments that reduce strain, support routine, and help patients move through the journey with greater steadiness and less fatigue.
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The COVID pandemic was a disastrous time for human civilization. The effects of that time are still observable to this day. The lockdown and other aspects of the period affected every stratum of society and life. And one of the most impacted sectors was the health care sector, which was at the forefront of the global crisis. Thus, other routine healthcare, as important as cancer, got neglected and caused pain and despair.
A recent study by the International Agency for Research on Cancer in Lyon, France, published in The Lancet Oncology, sheds light on the magnitude of the healthcare disruption during the pandemic, as the research finds there were 55,000 cancers that remained undiagnosed due to the spread of COVID. The largest estimation at an international scale observed data from 2.6 million patients and 18 jurisdictions.
The researchers saw that developed first-world countries like Norway and New Zealand suffered due to the crisis, though the health care systems there saw a smaller decline, which was followed by faster recovery. On the other side, even developed and economic powerhouses like the United Kingdom, Canada, and Australia got the worst of it, and recovery was also slower.
According to the study, 16 percent of the cancer cases remained undiagnosed in nations like Australia, Canada, Denmark, Ireland, New Zealand, Norway, and the UK between April and December 2020. Though the biggest dip was seen in prostate cancer diagnoses, which fell by a massive 24 percent, followed by breast cancer and melanoma, both down 18 percent.
Isabelle Soerjomataram, deputy head of the agency’s Cancer Surveillance Branch and the study’s senior author, said, “A more detailed understanding of why some health systems were better able to withstand the pressures of the Covid-19 pandemic could provide valuable lessons for future crisis preparedness.”
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The gland in the male reproductive system that makes seminal fluid is the prostate. This is the most common type of slow-growing cancer in men, which sees the abnormal growth of cells in the gland; if detected early, it is very much curable. Some early-stage symptoms of the disease are blood in the urine or semen, trouble urinating, and erectile dysfunction, and if you’re asking yourself, why you?
You could probably blame age, family history or lifestyle choices. While we cannot change the ‘why’, we can master the ‘how’ of finding the right treatment in time. Step 1: Rule out the possibility of cancer with a simple Prostate-Specific Antigen (PSA) blood test.
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Melanoma is a type of skin cancer that develops in melanocytes, the cells responsible for producing melanin, the pigment that gives skin its colour. It can occur anywhere on the skin but often develops on areas exposed to the sun, such as the face, arms, back, and legs. Melanoma can also appear in less-exposed areas, like the soles of the feet, palms, or under the nails, particularly in individuals with darker skin tones. Although rare, melanoma may develop in the eyes, mouth, or internal organs. The primary sign of melanoma is a new or changing mole, freckle, or skin lesion.
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Mental health is a very important aspect of life, and the society at large, but a recent survey has shed light on the current state of mental health in adolescents and young adults. The survey of RAND was published in the journal JAMA Pediatrics. The survey finds that 1 in 5 adolescents and young people is using an AI chatbot for mental health.
The organization also did a similar survey back in 2025, but then about 13% of respondents admitted to using a chatbot for advice; that number has jumped up to 19% this year. The 63% of them confessed that they did not tell anyone about taking therapy from a chatbot.
Ryan McBain, a senior policy researcher at RAND and the lead author of the study, said, “It’s a sad number, because you’d hope that young people would have the sorts of supportive relationships that they would feel comfortable and empowered reaching out to those around them.”
McBain and his team asked people aged between 12 and 21 years about their use of AI chatbots, including ChatGPT, Google Gemini, or Character.AI, for mental health advice. They also asked whether the advice from the chatbots was helpful, and the majority of participants felt that the suggestions were useful.
Also Read: Study Finds Healthy Lifestyle Reduces Cardiovascular Risk In Childhood Cancer Survivors
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