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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.”
Credit: iStock
Dry eyes are common among people who spend long hours on screens, and lubricating eye drops are often used for relief. But using the wrong drops, keeping an opened bottle for too long or even sharing eye drops can create problems.
Estimates suggest that up to 50% of adults experience dry-eye symptoms, making artificial tears a common part of self-care. But persistent symptoms should not simply be treated indefinitely without identifying the underlying cause.
So, how often can you use eye drops, and what should you keep in mind?
We spoke to Dr. Ritika Sachdev, Director at Centre for Sight, New Delhi, to understand the common mistakes people make while using eye drops.
Dr. Ritika said persistent or bothersome dry eye symptoms should be assessed by a doctor because dryness can have several causes.
These may include:
“Sometimes even not wearing your right spectacle power contributes to eye strain which can be misread as dry eye,” she said.
Lubricating drops can help support dry eyes, but prolonged use should be discussed with an eye specialist.
Also read: Eye Drop Recall: Nearly 750,000 Products Pulled Over Sterility Concerns in US
Several eye-drop products have been recalled in the US in recent years over contamination and other safety concerns. This makes proper storage, handling and hygiene particularly important when using eye drops.
Dr. Ritika cautioned that some eye drops contain preservatives that may worsen dryness when used for a long time.
“Many of the eye drops have preservatives which if used over a long period of time actually cause more dry eye,” she said.
According to her, preservative-free drops or those with very mild preservatives may be preferable for people who need regular use.
"Once opened, an eye drop bottle can become contaminated if it is not handled or stored properly," Dr. Ritika said.
The expert advised:
“Once the bottle is open, it often may get contaminated,” she said. “If it gets contaminated, it is a source of infection.”
Read More: Andrew Huberman’s Sleep Trick: Can Eye Movements Help You Fall Back Asleep?
More drops do not mean more relief.
“The capacity of the eye is only one drop,” Dr. Ritika said.
Putting two or three drops at once can cause the excess to spill onto the surrounding skin and simply waste the product. One properly administered drop is generally enough at a time, she said.
Dr. Ritika said people often squeeze their eyes tightly after putting in drops because they think this will keep the medicine inside. But squeezing can push the drop back out.
Instead:
Some people experience an unpleasant sensation in the throat after using medicated eye drops.
Dr. Ritika explained that tears can travel from the eye through the tear duct to the nose and then the throat.
She suggested gently pressing near the inner corner of the eye for a while after applying the drop to reduce this drainage.
Sharing eye drops may seem harmless, particularly within families, but Dr. Ritika advised against it.
If the bottle tip accidentally touches an infected eye, the bottle can become contaminated and potentially transmit infection when used by someone else.
“Eye drop is something that is for your personal hygiene and it should therefore be kept by you and used by you,” she said.
Credit: AI
Clear vision does not always mean that the eyes are healthy. Diabetes can damage the retina the sensitive layer at the back of the eye long before a person notices any change in eyesight.
This happens because high blood sugar can weaken the blood vessels that supply the retina causing them to leak fluid or blood.
Diabetic retinopathy is a complication in which high blood sugar damages the blood vessels. In the stages these vessels may swell or develop small areas of bleeding without affecting vision.
As the condition advances, reduced blood supply can cause abnormal new blood vessels to grow. These vessels are fragile. May bleed into the vitreous the clear gel inside the eye. In some cases, scar tissue can pull the retina away from its normal position leading to retinal detachment and potentially permanent vision loss.
Also read: Eye Drop Recall: Nearly 750,000 Products Pulled Over Sterility Concerns in US
Diabetes can also affect the macula, the part of the retina responsible for sharp detailed vision. When fluid builds up in this area it can cause macular oedema and gradually affect the quality of vision.
It may lead to:
Diabetic macular oedema can occur at different stages of diabetic retinopathy and does not always cause symptoms in the early stages.
Also read: Eye Twitching: Is It Just Stress Or Something Serious?
The likelihood of eye damage increases with the duration of diabetes and poor blood sugar control. High blood pressure, abnormal cholesterol levels and kidney disease can further increase the risk.
Women with diabetes may also need monitoring during pregnancy as hormonal and blood sugar changes can worsen existing retinal disease.
On World Sight Day, doctors recommend that a routine eyesight test may not detect damage to the retina. People with diabetes should therefore undergo an eye examination, including a dilated retinal examination at intervals recommended by their ophthalmologist.
Keeping blood sugar, blood pressure and cholesterol, under control can help reduce the risk of complications. If damage is detected treatment may include eye injections, laser therapy or surgery depending on its severity.
Diabetic eye disease can often be managed effectively when identified early. Regular retinal examinations remain important when a person can see clearly as changes may develop before symptoms appear.
By Dr Ashu Agarwal, Senior Consultant, Opthalmology, Indraprastha Apollo Hospital, Delhi
Credit: iStock
Menopause is a natural stage of aging that ends menstruation and reproductive function. It usually occurs between ages 45 and 55.
But growing interest in extending the reproductive years has raised a question: Can menopause be delayed, and would doing so actually benefit women's health?
Longevity influencer Kayla Barnes-Lentz, in her mid-30s, recently told Business Insider that she is trying to delay menopause until 60 using lifestyle changes and experimental treatments.
Scientists are studying ways to slow ovarian aging, including ovarian tissue freezing and drugs such as rapamycin.
Early human research suggests rapamycin may slow ovarian aging by around 20%. However, evidence remains limited, and the drug is not FDA-approved for delaying menopause. Its use for this purpose is off-label.
The 2024 Research by Dr. Kutluk Oktay at Yale School of Medicine has also explored whether menopause could eventually be postponed or prevented by preserving ovarian function.
But delaying menopause is not necessarily an all-round health benefit. Longer estrogen exposure may support bone, heart and brain health, while potentially increasing the risk of some hormone-sensitive cancers.
Also read: ‘I Was Vocal About Cancer But Silent About Menopause Out Of Shame’, Says Actress Lisa Ray
Menopause around age 45 or younger can affect several aspects of health as estrogen levels fall.
Is Later Menopause Healthier?
Menopause at 55 or older means longer exposure to estrogen and has been associated with some benefits, including better bone and cardiovascular health.
But the picture is not straightforward. Longer estrogen exposure has also been linked to a higher risk of breast, endometrial and ovarian cancers. So, later menopause should not automatically be considered healthier.
No. Hormone replacement therapy treats menopause symptoms but does not stop or postpone menopause.
It can help with hot flashes, sleep problems and vaginal dryness and may benefit some women at risk of bone loss. HRT can contain estrogen alone or estrogen with progesterone.
Its risks and benefits depend on factors such as age, timing, formulation, dose and duration. For appropriate women, the benefit-risk balance is generally more favorable when treatment begins before age 60 or within 10 years of menopause.
Genetics play a major role in determining when menopause occurs, and there is no lifestyle change proven to reliably postpone it.
Some factors have been linked with later menopause or a lower risk of early menopause:
These habits cannot guarantee a later menopause but can support overall health through midlife.
For now, treatments specifically designed to delay natural menopause remain experimental. There is no established method that can reliably and safely postpone menopause in healthy women.
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