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.”

When we think of perimenopause, irregular periods, hot flashes and mood changes usually come to mind. But the transition to menopause is not limited to the menstrual cycle. Behind the scenes, changing ovarian hormones—particularly fluctuating and eventually declining estrogen—can influence body composition, insulin sensitivity, cholesterol levels, bone health and cardiovascular risk.

For many women, these metabolic changes begin years before their final menstrual period.

Why does weight suddenly behave differently?

A common concern during perimenopause is: “I haven’t changed my diet, so why am I gaining weight around my abdomen?”

Ageing itself contributes to gradual loss of muscle mass and changes in energy expenditure. At the same time, the menopausal transition is associated with a shift in fat distribution, with a greater tendency to accumulate visceral or abdominal fat.

This matters because visceral fat is metabolically active. An increase in abdominal fat can be associated with insulin resistance, abnormal cholesterol levels and a higher risk of metabolic disease. So, the change in waist circumference may sometimes tell us more about metabolic health than the number on the weighing scale alone.

Also read: After Menopause, These Breast Changes Shouldn’t Be Ignored

Blood sugars may raise up too

Estrogen interacts with several pathways involved in glucose and fat metabolism. During midlife, changes in body composition, reduced physical activity, sleep disturbance and hormonal changes can collectively make insulin sensitivity less favourable.

This does not mean every woman going through perimenopause will develop diabetes. However, women who already have risk factors—such as overweight or obesity, prediabetes, a history of gestational diabetes or a strong family history of type 2 diabetes—should be particularly mindful.

Cholesterol and heart health deserve attention

The menopausal transition can also be accompanied by unfavourable changes in the lipid profile, including changes in LDL cholesterol. Cardiovascular risk increases with age, and menopause is an important time to reassess risk factors such as blood pressure, glucose, cholesterol, smoking, physical activity and body composition.

Women often spend years focusing on reproductive health while overlooking these equally important metabolic markers.

Also read: World Menopause Day: Is It Empty Nest Syndrome Or Menopause Symptoms? Expert Explains

Muscles and bones need attention as well

Midlife is also an important period for protecting muscle and bone. Declining estrogen after menopause accelerates bone loss, while ageing contributes to loss of muscle mass.

Resistance training therefore becomes especially valuable. Adequate protein intake, regular weight-bearing exercise, sufficient calcium and vitamin D, good sleep and avoiding smoking can support healthier ageing.

What should women do?

Perimenopause should not be viewed as a disease, nor should every symptom or kilogram gained in midlife automatically be blamed on hormones. Instead, it is an opportunity for a metabolic health check.

Women should discuss appropriate screening for blood pressure, blood glucose or HbA1c, lipid profile, weight and waist circumference monitoring , DEXA scan for bone health, depending on their individual risk factors.

Most importantly, don’t wait for menopause to start thinking about metabolic health. The perimenopausal years can be an important window to build muscle, improve fitness, optimise nutrition and identify metabolic risk early.

Perimenopause is more than a change in periods—it is a transition in whole-body health. Understanding these changes early can help women enter the next phase of life stronger, healthier and better prepared.

(By Dr. Seema Daksh, MBBS, MD (Internal Medicine), DM (Endocrinology), Consultant Endocrinologist,Kailash Hospital, Greater Noida)

From haunted houses and sudden scares to sweet treats and costumes, Halloween fun can come with hidden health risks, particularly for people with existing heart and lung conditions.

Experts explain how sudden fright, excessive sugar and common activities on Halloween, observed on October 31, can affect heart and lung health.

How Sudden Scares Can Affect Your Heart

A sudden scare activates the body's sympathetic nervous system, raising heart rate and blood pressure while constricting blood vessels.

This response is usually harmless in healthy people, but may pose risks for those with arrhythmias, coronary artery disease or a history of stents or heart surgery.

A racing heartbeat should settle after the scare. Persistent palpitations, dizziness, shortness of breath, chest pain or tightness, nausea, sweating or fainting warrant medical attention, says Dr Mohamed Gabr, cardiologist and electrophysiologist at Baylor College of Medicine.

In addition, excessive consumption of sugar candies during Halloween can contribute to obesity, diabetes, high blood pressure and unhealthy cholesterol levels. Cholesterol and plaque buildup in the coronary arteries can begin at a young age.

Also read: You Feel Healthy. But Plaque May Already Be Building In Your Arteries In Your 20s

Halloween Activities That Can Trigger Asthma

Halloween activities can expose people with asthma to several triggers. Ragweed pollen, mould on damp fallen leaves and cold, dry air can worsen symptoms during autumn, according to the American Lung Association.

Fog machines and dry ice effects in haunted houses can release water droplets and chemicals, including glycol-based solvents, that may irritate airways. Glitter machines, bonfire smoke, dust from stored costumes and decorations, and strong fragrances can also trigger symptoms.

Dr Rubabin Tooba, a pulmonologist with Northwestern Medicine, says these exposures may cause coughing, wheezing, breathlessness and chest tightness, particularly in people with asthma, severe allergies or COPD. Tight-fitting masks can also make breathing difficult.

Fear, excitement and laughter may trigger asthma symptoms in some people. Trick-or-treating can bring additional exposure to pet dander, scented candles, cigarette smoke and fireplace fumes.

Pumpkin Carving And Halloween Injuries

Read More: Why Are Asthma Cases Rising Among Young Kids? Early Symptoms Parents Must Not Ignore

The US Consumer Product Safety Commission (CPSC) estimates that an annual average of 3,200 Halloween-related injuries were treated in US emergency departments over a recent three-year period.

Pumpkin carving accounted for 55% of these injuries, while 25% were related to falls while putting up decorations, tripping on costumes or walking while trick-or-treating. The remaining 20% involved lacerations, ingestions, allergic reactions and other costume- or decoration-related injuries.

Children younger than 18 years accounted for 46% of injuries, with approximately 10% occurring in children aged 6 years or younger.

The Plastic Hand Trauma Unit at Royal Devon and Exeter Hospital has also treated patients with deep cuts, severed tendons and nerve damage from pumpkin carving, BBC reported.

How Can You Stay Safe This Halloween

• Protect your heart: Be mindful of sudden scares if you have an existing heart condition. Seek medical attention for persistent palpitations, chest pain, breathlessness or fainting.

• Moderate candy: Limit sugary treats and consider fruit alternatives.

• Avoid asthma triggers: Ask about fog effects at haunted attractions and leave if you experience breathing discomfort.

• Check costumes and decorations: Clean stored items before use and discard anything with mould or a musty smell. Choose breathable, open-face masks.

• Use makeup carefully: Choose fragrance-free or hypoallergenic products and apply them in well-ventilated spaces.

• Carry asthma medication: Keep your prescribed quick-relief inhaler and spacer handy. Watch for coughing, wheezing or chest tightness, and take breaks when needed.

• Reduce infection risks: Practise good hand hygiene, stay home when sick and keep vaccinations up to date.

• Carve pumpkins safely: Avoid kitchen knives. Use pumpkin-carving kits with serrated tools and make small, controlled cuts.

When women suffer from interrupted sleep, continuous discomfort or mood swings during mid-life, saying “it’s just the aging” must not conclude the conversation. It is true that menopause is a physiological condition, but when there are concerns that disrupt day-to-day activities, these have to be sorted out. This is key to improving the healthcare experience for women.

Midlife healthcare issues must have a place within India’s healthcare debate right along with menstruation, pregnancy, and childbirth. Women need knowledge, support, and care around menopause.

The Impact Extends Beyond Hot Flushes

Menopause is usually diagnosed once a woman goes for an entire year without a period, with no other causes involved. However, symptoms of menopause can become evident much earlier during the stage of perimenopause, long before the end of the periods.

These include insomnia, anxiety, difficulties with concentration, vaginal dryness, bladder problems, and pain in the joints that can affect one’s social life, work, and self-esteem. The experiences of women during their menopausal period can be very different since some women experience mild symptoms while others need medical help.

Also read: Times Network India Health Summit 2026 Key Takeaways: AI, Fertility, AYUSH, Cancer Care And More

Making Consultations More Useful

There is a need for creating an environment that will facilitate such questions, especially regarding painful intercourse, incontinence of urine and psychological status. During a good consultation, a history of menstruation, symptoms, medication being taken and other medical conditions must be discussed. There is also need to define what changes need evaluation.

Postmenopausal bleeding is always an indication for seeking medical care. The access to health services can be facilitated through dissemination of information in local languages and referral process.

Personalised Treatment, Not a Standard Prescription

There is no such thing as a single treatment for menopause that will be applicable to all women. Treatment includes lifestyle modification, counselling, administration of medications except hormones, and the use of vaginal or menopausal hormones.

While hormone therapy assists in easing certain symptoms, it is necessary to consider this treatment on an individual basis, taking into consideration advantages and disadvantages, as well as the health history of each person. It is vital that women are informed about different kinds of treatment methods and are able to decide on issues related to their health care.

Also read: Unspoken Side Of Breast Cancer: Experts Discuss Recurrence Risk, Emotional Toll & Societal Impact At Times Health Summit 2026

A Chance to Strengthen Preventive Healthcare

The other use of midlife appointments can be discussing bones, exercise, nutrition, high blood pressure, risk of getting diabetes, and associated tests. This should be a supplementary measure rather than a replacement for addressing symptoms.

The home and work environment can assist through being sympathetic to women receiving treatment without embarrassment. Involving menopause in the field of healthcare translates to valuing the quality of life as a significant health concern. It should never come to a point whereby a natural occurrence becomes a barrier for the accessibility of information.

By Dr. Priya Gupta, Senior Consultant, Obstetrics & Gynaecology, Cocoon Hospital Jaipur