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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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Being aware of personal and family cancer risk may be a critical component in women's knowledge and empowerment to make appropriate screening, prevention and treatment decisions.
Cancer treatment is fast evolving. Doctors are now focusing more on the person than the location or type of cancer and are considering the personal attributes of the patient and the disease. Genetic/genomic testing can complement this and can offer something more that could inform personalised cancer care.
Genetic testing screens for changes in the genes that could be passed down from parents. Some genetic mutations passed down from parents can make a woman more likely to get breast or ovarian cancer.
Having such a genetic change does not mean that a woman will develop cancer. This information will help her and her doctor discuss screening, monitoring and preventive action (if applicable) to reduce her risk.
This information may be useful for family members who could be at risk and should talk to their health care provider about their own risk.
There is a difference between genetic testing and genomic testing. Genetic testing is usually performed on blood or saliva to look for inherited changes or genetic predisposition. Genomic testing is usually performed on the tumour or blood to identify its molecular features to enable better understanding of its biology and biomarkers.
Cancer is not one disease and even two patients with the same type of cancer can have different biological characteristics, which can help doctors decide on the treatment and options that may be suitable for an individual patient.
Genomic testing could help to pinpoint features of a tumour that can be used to consider particular targeted treatments or other methods. But not all of them will be suitable or available to all patients based on the results of testing.
For women, knowing their family history and discussing any concerns with a doctor can be an important starting point. Genetic or genomic testing should not be done simply because it is available. A specialist may recommend testing based on factors such as family history, age at diagnosis and the type of cancer involved.
It is also important to understand test results correctly. Genetic counselling and discussions with an oncology specialist can help women understand what their results mean and what they do not mean.
Ultimately, genetic and genomic testing is not about predicting the future with certainty. It is about giving patients and doctors more information to make better-informed decisions.
As cancer care moves towards greater personalisation, the freedom to know your risk can become a powerful part of taking control of your health—helping women move from fear and uncertainty towards awareness, informed choices and personalised care.
(Dr. Jyoti Wadhwa, Principal Lead, Medical & Precision Oncology, Apollo Athenaa Women’s Cancer Center)
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World Mosquito Day, observed on August 20, raises awareness about mosquito-borne diseases such as dengue, malaria, Zika, yellow fever, and chikungunya and the health risks they pose.
Among these diseases, dengue remains a major public health concern, affecting people across regions worldwide throughout the year.
Also read: India’s First Approved Dengue Vaccine: Takeda’s QDENGA Protects Against All Four Virus Serotypes
Dengue is typically associated with high fever, joint pain, and low platelet counts. However, severe dengue can affect the kidneys and lead to acute kidney injury (AKI).
Speaking to HealthandMe, nephrologists said kidney problems may not always cause symptoms early on, making monitoring particularly important in severe dengue.
Dr. Anupam Roy, Additional Director - Nephrology and Kidney Transplant, Aakash Healthcare Multi-Speciality Hospital, Dwarka, said that recovering from dengue requires careful fluid management, particularly in severe cases.
It is because the kidneys regulate fluids and electrolytes, and changes in circulation caused by dengue can temporarily disrupt their function.
Fever, vomiting, and poor fluid intake can cause dehydration, while severe dengue can cause plasma leakage. Both too little and too much fluid can create problems, making medical supervision important. In hospital, healthcare professionals monitor urine output and signs of dehydration, particularly in patients with complications or underlying health conditions.
After the acute phase, patients should gradually resume eating and drinking according to medical advice. Excessive fluid intake and self-medication should be avoided, particularly when medicines could place additional stress on the kidneys.
“So, it is the quantity issue that must be tackled,” Dr. Roy said.
According to Dr. Manoj Arora, Consultant Nephrologist, NephroPlus, a network of dialysis centers, warning signs include:
Some symptoms can overlap with severe dengue, including continuous vomiting, severe stomach pain, and bleeding.
Kidney injury is more likely in people with severe dengue or shock. Older people and those with diabetes, hypertension, obesity, or existing kidney problems may also face higher risk.
Seek medical attention for a drastic reduction in urine, new swelling, blood in the urine, worsening breathlessness, confusion, or continuous vomiting.
In hospitalized patients, monitoring is important when creatinine rises, electrolyte levels fluctuate — particularly potassium — or urine output continues to change.
Early recognition and appropriate management are key. Doctors may monitor:
Do not self-medicate or increase fluid intake without medical advice, particularly during severe dengue.
Reducing mosquito exposure and preventing mosquito breeding can help lower the risk of dengue.
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Are you someone who can spend hours scrolling through short videos on Instagram, YouTube or TikTok? A new study suggests that watching preferred short videos may temporarily quiet brain regions involved in self-control and monitoring, offering a possible clue to why it can be so hard to stop.
Short Videos May Quiet Brain’s Self-Control Network
The research, published in the journal NeuroImage, found that watching preferred short videos may temporarily suppress activity in parts of the brain involved in cognitive control. This effect may also be linked to levels of the brain chemical glutamate.
The study focused on the dorsal anterior cingulate cortex (dACC) and dorsolateral prefrontal cortex (dlPFC). Both are key regions of the cognitive control network, which becomes active during tasks that require mental effort, attention and self-regulation.
Researchers from Zhejiang University in China found that both the dACC and dlPFC showed significant deactivation when participants watched preferred videos to completion, compared with less-preferred videos that were stopped early.
The liked videos significantly reduced activity in both brain regions linked to cognitive control. When participants watched videos they chose to continue, activity in the dACC and dlPFC fell below normal resting levels.
However, disliked videos showed a different pattern. Activity in the dACC remained close to normal, while the dlPFC was still suppressed. Meanwhile, the visual cortex remained active during both types of videos, suggesting the changes were linked to the viewing experience rather than simply looking at a screen.
The small study of 56 participants also examined whether resting levels of two important brain chemicals could help explain differences in how participants’ cognitive control networks responded during short-video viewing.
Glutamate is the brain’s main excitatory neurotransmitter, helping increase neural activity. Gamma-aminobutyric acid (GABA) is the brain’s main inhibitory neurotransmitter, helping reduce or regulate neural activity.
The researchers found that resting-state glutamate levels in the dACC were associated with the extent of brain deactivation. Higher glutamate concentrations were linked to less suppression of activity in both the dACC and dlPFC.
Functional connectivity between the dACC and dlPFC also increased during video viewing, particularly when participants watched their preferred videos.
The researchers said the findings provide new evidence that immersive viewing of preferred short videos can deactivate the cognitive control network and that individual differences in this response may be linked to glutamate metabolism.
They suggested that the findings could help improve understanding of how digital media consumption interacts with neurochemical processes involved in self-regulation and may offer insights into the neural mechanisms behind excessive short-video use.
The study, however. does not establish that short-video viewing directly causes a loss of self-control or addictive behavior.
Previous research has linked excessive short-video use with changes in attention, focus and mental well-being.
Studies in Nature Communications and research from the American Psychological Association suggest that highly stimulating, rapidly changing content may encourage constant novelty-seeking and make sustained attention more difficult.
Potential effects include:
Short videos are not inherently harmful, but excessive or compulsive scrolling can become a concern when it interferes with sleep, work, studies or daily life.
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