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.”
Credits: Canva
Receiving a cancer diagnosis is scary, but what often causes greater harm is the delay in finding the disease and starting treatment. Many patients visit doctors only when symptoms become too obvious to ignore, by which time the illness has already advanced and is far harder to control. In most cases, cancer is caught late not because it hides well, but because people skip routine screenings.
In an Instagram video shared on November 6, Dr Jayesh Sharma, consultant surgical oncologist at ITSA Hospitals, spoke about four key tests that can help detect cancer early and reduce the number of late-stage cases.
Dr Sharma explained that there are four screenings everyone should consider. He noted that these tests can help identify cancer at the very first stage, when abnormal cells have formed but have not yet begun to spread. Detecting it at this point allows doctors to remove the cells completely, giving patients an excellent chance of recovery.
Dr Sharma advised getting a mammogram once around the age of 40. He mentioned that while yearly tests are often suggested, most people do well with a screening every two years.
Cervical cancer remains one of the most common cancers in women. According to Dr Sharma, the Pap smear is a reliable way to catch early changes in cervical cells, even before symptoms appear.
He also recommended a stool test as a simple way to look for signs of stomach cancer. The earliest sign of trouble in the stomach is often hidden bleeding, which can be picked up through this test.
For people who have been heavy smokers over many years, Dr Sharma suggested a chest CT scan. This group faces a higher chance of lung cancer, and a scan can help identify changes in the lungs at an early stage.
Warning signs of cancer can appear in many ways, and the symptoms usually depend on which part of the body is involved.
Some broad symptoms that may point to cancer, though they can occur in many other conditions as well, as per Mayo Clinic include:
You should contact your doctor if any symptom continues for a long time or gives you reason to worry.
If you feel fine but are anxious about your cancer risk, speak with your doctor about it. They can guide you on the screening tests or checks that may be suitable for you
Credits: Canva
Recent data from the Human Fertilisation and Embryology Authority show a sharp rise in the number of women opting for egg-freezing. Yet the subject remains clouded by many misunderstandings. The decision itself is not simple. It involves emotional questions, significant costs and the physical demands of treatment. One common misunderstanding is the belief that egg freezing can harm egg quality, when the procedure does not lower the inherent quality of the eggs you already have.
We got in touch with Dr Shaweez Faizi, Fertility Specialist, Nova IVF Fertility, Mangalore, who told us more about the same.
Egg freezing, also called oocyte cryopreservation, is a fertility option in which a woman’s eggs are collected, frozen, and kept for future use. The steps include taking hormones to help the ovaries produce multiple mature eggs, retrieving those eggs through a short clinical procedure, and freezing them through a rapid cooling method known as vitrification.
As per Healthline, the frozen eggs are then stored in liquid nitrogen. When pregnancy is planned later, the eggs are thawed, fertilized in a laboratory, and the embryo is transferred to the uterus.
The journey begins with roughly 8 to 12 days of hormonal tablets and injections that help several follicles grow at once. Dr Shaweez Faizi told us that doctors then use an ultrasound-guided needle to retrieve the mature eggs under light anaesthesia. The eggs are preserved through vitrification. The medication does not pull eggs from future years. It acts only on that month’s cohort, which is why medical bodies consider the procedure safe and ethically sound.
Can Egg Freezing Lower Your Egg Quantity?
Dr Shaweez Faizi told us that egg-freezing does not drain your ovarian reserve for life. The process collects only the group of eggs that your body was already preparing to release in that month. Some women notice a short-term dip in AMH after the procedure, but this usually settles with time. The stored supply inside the ovaries remains unchanged.
For those unversed, AMH, or Anti-Müllerian Hormone, is commonly used to assess ovarian reserve, meaning the approximate number of eggs still present in a woman’s ovaries.
AMH is often treated as a marker of ovarian reserve, though it naturally varies. Studies show that a small number of women experience a temporary fall in AMH after stimulation, followed by a return to baseline. Specialists usually advise repeating the AMH test a few months after retrieval to get an accurate picture.
Age at the time of freezing and the number of eggs stored have the strongest influence on outcomes. Global data suggest that women under 38 who freeze about 20 eggs tend to have higher chances of a future live birth. Older women usually retrieve fewer eggs per cycle, and success rates decline. Indian clinics report a wide range of live-birth outcomes, depending on age and the number of usable eggs.
People with low AMH or diminished reserve will have fewer eggs from the start. The issue lies in the baseline biology, not in the freezing itself. Those who have had ovarian surgery, such as endometrioma removal, may have reduced reserve due to the operation and should plan their timing carefully.
Women facing chemotherapy or serious medical treatment should consult both oncologists and fertility specialists. The Indian Fertility Society recently issued guidance on handling low ovarian response and preservation choices.
Dr Shaweez Faizi shared a few practical steps for women considering egg freezing:
• Start with basic tests such as AMH, AFC and a hormonal panel.
• Ask detailed questions about expected egg yield for your age, the number of cycles you may need, and the clinic’s real success figures. Advertising often paints a brighter picture than the data.
• Plan financially for medication, scans, retrieval, freezing and long-term storage.
• Keep age in mind, as younger eggs are more likely to develop into healthy embryos.
• Choose established centres that follow national and international practice standards.
Egg-freezing is a recognised and safe method to preserve fertility options, but it is not a guaranteed path to pregnancy.
Costs, success rates and the number of cycles needed vary widely. As the service becomes more accessible in India’s metropolitan centres, careful counselling and realistic planning remain essential before you decide.
Credits: Canva
India’s growing dependence on quick, over-the-counter remedies has drawn fresh concern from a senior orthopaedic and sports surgeon in New Delhi. In a recent Instagram video, Dr Obaidur Rahman of Dr Ram Manohar Lohia Hospital warned that the country’s casual use of a common antibiotic is undermining its effectiveness and pushing India closer to a major public health challenge. His message, shared through a post and video, called attention to an urgent issue that often goes unnoticed in everyday medical choices.
Azithromycin, sold under brand names such as Zithromax, Azee and Zmax, is a macrolide antibiotic prescribed for various bacterial infections. It works by slowing the growth of harmful bacteria. It does not help with viral illnesses like the common cold or flu, according to MedlinePlus.
Azithromycin Is Being Used “More Than Toffee or Roti”
Dr Rahman explained that one particular antibiotic has become so familiar in Indian homes that many people take it without a second thought. He noted that families frequently reach for this medicine to treat colds, coughs and mild fevers, despite the fact that most of these illnesses are viral. Because antibiotics do not work on viruses, this habit has increased unnecessary exposure and created ideal conditions for resistance to form.
In his post, he described the extent of the overuse by saying that the tablet is consumed even more commonly than basic household foods. This pattern, he said, has quietly pushed India into a vulnerable zone.
The antibiotic at the center of his warning is Azithromycin, a drug often prescribed for sore throats and upper respiratory tract infections. Dr Rahman noted that it was once effective against Mycoplasma Pneumonia, a bacterium responsible for pneumonia in adults and children.
He pointed out that this is no longer the case. According to him, India now shows an alarming 80 to 90 percent resistance to Azithromycin when treating infections caused by this bacterium. A medicine that once addressed a wide range of respiratory problems is no longer reliable for many patients.
Dr Rahman said that antibiotic resistance is not an abstract idea but something he encounters in his orthopaedic practice. He has seen cases where routine antibiotics fail entirely, leaving patients with few options. When commonly used drugs stop working, he added, treatment becomes more complicated, more expensive, and sometimes impossible.
His concern is that if such misuse continues unchecked, India could face a situation where even simple infections become difficult to manage.
The surgeon urged people to avoid taking antibiotics without proper medical advice. Most seasonal respiratory infections resolve on their own, and unnecessary drugs only add to the resistance problem. He encouraged viewers to share the information, especially with those who often purchase antibiotics over the counter.
Dr Rahman, who works at PGIMER and RML Hospital and specialises in bone, joint and sports injury care, said his experience treating a large volume of patients has made the issue impossible to ignore. He believes that without immediate changes in how antibiotics are used, India risks losing access to medicines that save lives in emergencies.
His message acts as a reminder that antibiotic resistance does not appear suddenly. It builds slowly through small, routine choices. And, as he warns, the cost of ignoring these early signs may be far greater than most people realise.
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