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.

A Breakthrough

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.

Families Who Solved The Mystery

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.

The Domino Effect

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.

Way Ahead

Shum believes HAQ-STING could lead to game-changing treatments, including:

• Prenatal gene therapy for babies diagnosed with COPA Syndrome before birth
• Aerosol delivery of HAQ-STING for adults, directly targeting the lungs

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.”

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.

What happens as retinopathy progresses?

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

How diabetes affects central vision

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:

• Distorted central vision
• Difficulty reading or recognising faces
• Problems with activities that require clear detailed vision, such as driving

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?

Who is at risk?

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.

Why regular eye examinations matter

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

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.

Can Menopause Be Delayed?

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.

What Are The Risks Of Early Menopause?

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.

• Bones: Faster bone loss and higher osteoporosis risk.
• Heart: Changes in blood vessels and cholesterol may increase cardiovascular risk.
• Brain: Hormonal changes can affect memory and cognition.
• Sexual health: Vaginal dryness and reduced lubrication can cause discomfort.
• Urinary health: Lower estrogen can contribute to urinary symptoms and incontinence.

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.

Can HRT Delay Menopause?

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.

Can lifestyle delay 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:

• Breastfeeding: Longer breastfeeding has been associated with a lower risk of early menopause.
• Exercise: Supports overall health, although evidence that it directly delays menopause is limited.
• Not smoking: Smoking is linked to earlier menopause.
• Healthy diet: Some research links diets rich in antioxidants and omega-3 fatty acids with later 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.

The suspected plague situation in Russia has reportedly claimed another life, fueling fears of a potential outbreak. However, Russia has not confirmed that either death was caused by plague, and investigations into the cases are ongoing.

India, which has witnessed plague outbreaks in the past, including the 1994 Surat outbreak and a pneumonic plague outbreak in Himachal Pradesh in 2002, also has rodent populations that can serve as reservoirs for plague. But does the situation in Russia pose a risk to India if plague is eventually confirmed?

To understand the potential risk to India, HealthandMe spoke to two experts with experience investigating plague outbreaks in India.

Plague From Test-Tube Exposure?

Also read: Russia Plague Scare: Is Pneumonic Plague Deadlier Than Bubonic & Septicemic Plague?

The death of a 28-year-old laboratory worker in Russia’s Irkutsk region has raised concerns about possible plague exposure. Reports said she may have accidentally broken a test tube containing Yersinia pestis, the bacterium causing plague, while collecting samples. However, Russian authorities have not confirmed plague and said she died of pneumonia of unknown cause.

Dr NK Ganguly, former Director General of the Indian Council of Medical Research (ICMR) told HealthandMe that the case has not been established as plague and questioned whether a test-tube exposure could explain plague pneumonia.

“Actually, the case in Russia has not been proven to be plague. It has been reported as a case of unknown cause and undiagnosed pneumonia. They have been investigating plague among about 2,000 people in the vicinity, as well as among people in the laboratory. So, they have not confirmed it as a plague case. And from a test tube exposure, it is difficult to have plague pneumonia.”

Unconfirmed reports have also claimed another death linked to the same laboratory, but this has not been independently verified.

Dr Ganguly was one of the people who investigated the 1994 plague outbreak in Maharashtra’s Beed district.

Should India Be Concerned?

There is currently no indication that the situation in Russia poses a significant pandemic risk to India.

Dr Ganguly said there is no reason for India to be very concerned about the Russian situation, particularly because plague has not been confirmed.

“So from the Russian plague, there is no, we need not be very worried. Firstly, they have not reported it as plague. It might be plague, but they have not reported it as plague.”

The WHO has also assessed the risk to the wider population as low. WHO spokesperson Christian Lindmeier said the initial assessment based on available information put the risk at moderate to low for Irkutsk, low for Russia as a whole and very low for the WHO European Region.

How Does Plague Spread?

Plague is caused by the bacterium Yersinia pestis and is primarily associated with rodents and their fleas. It can occur in different forms, including bubonic, septicemic and pneumonic plague. Russia is suspected to have pneumonic plague.

Dr Amitabh Banerjee, who investigated the Himachal Pradesh plague outbreak in 2002, said plague does not typically spread rapidly from person to person.

“So it's not a very quick transmission, particularly person to person. But plague is a disease which cannot be eradicated because it is in wildlife, it is in rodents and all. So the only thing is hygiene and, with modern antibiotics, there should not be any panic,” he told HealthandMe.

Banerjee also noted that pneumonic plague can be severe, while bubonic plague does not typically spread easily from person to person.

“So pneumonic plague can be very deadly particularly pneumonic plague and that will be localized pandemic it is not possible because those persons will be very sick, they cannot move out or not and bubonic plague will not transmit very easily from person to person and both are treatable…”

How Should India Prepare?

While Dr Ganguly said there is no immediate reason for India to be worried about the Russian situation, he stressed the importance of continued surveillance of rodents and other animals, particularly where wildlife and human habitation overlap.

“So the main thing is that go on doing surveillance in the rats and other, in the vicinity of where the forest and the human habitat march. And whenever you find any activity, then take preventive precaution.”