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.”

A heatwave is getting worse with each passing day, and with it come dehydration, stomach flu, and sometimes even mood swings. But little do people realise that the risks associated with a heatwave could be much worse - it turns out that exposure to extreme heat could also give you a stroke. Dr Deep Das, Consultant - Neurology, CK Birla Hospitals, CMRI, in an interview with Health and Me, decoded the link between heatwaves and the risk of stroke.

How does a heatwave affect stroke risk?

Dr Das said that in very high temperatures, the body does not always cope in predictable ways. The brain is particularly sensitive to these shifts. One of the concerns is stroke. In the heat, people tend to lose fluids without realising how much. Blood volume drops, and circulation is affected. In some cases, the blood becomes more prone to clotting. At the same time, blood pressure can fluctuate. This combination increases the chances of a disruption in blood flow to the brain.

Can extreme heat give you a seizure?

Seizures are another risk, especially in those who already have epilepsy. Even when the condition has been stable, heat can unsettle things. Dehydration and changes in electrolyte balance make the brain more reactive than usual. A person who has been well-controlled for months may still have an episode during a prolonged heatwave. What makes this difficult is that these changes are not always gradual. Symptoms can appear suddenly.

What are the symptoms of a stroke?

A stroke refers to a potentially fatal medical emergency. It can be sudden or gradual, and it is characterised by a blockage in blood circulation to the brain. It can result in rapidly dying brain cells and requires immediate medical attention. The symptoms of stroke can be identified as FAST:

1. Face: Face drooping on either side
2. Arms: Weakness in the arms or inability to move the arms
3. Speech: Slurred speech
4. Time: Time is an important factor; immediate action can be life-saving for stroke patients

Apart from this, other symptoms of a stroke are:

1. Severe, unusual headaches
2. Confusion
3. Loss of consciousness
4. Dizziness
5. Loss of balance
6. Inability to see clearly from one or both eyes

How to dodge a heatwave-related stroke?

In this weather, small precautions matter more than they seem. Some of the best ways to dodge a stroke amid a heatwave are:

1. Drinking water regularly helps, even before you feel thirsty
2. Staying indoors during peak afternoon hours reduces strain on the body
3. Living spaces need some form of airflow, even if it is basic ventilation

It also helps to keep an eye on people who may not notice these changes early—older adults, those living alone, or anyone with an existing medical condition.

Should you be worried?

Some people are more prone to stroke risk than others. Therefore, it is important to be aware of the risk factors, especially during a heatwave. If you are dealing with any of the following comorbidities, think twice before stepping out amid a worsening heatwave:

1. Hypertension
2. Diabetes
3. Irregular heartbeat
4. Sleep apnoea
5. High cholesterol

Furthermore, people who are 65 years and above must avoid stepping out from 12 noon to 4pm. Even people who have a family history of stroke must not step out during these hours.

Breast cancer remains one of the most common and fatal cancers among women worldwide, and early detection is proven to play a crucial role in improving outcomes. While mammography remains the most effective screening tool, knowing when to start and how often to get screened can be confusing.

The changing medical guidelines, as with the new screening guidelines from the American College of Physicians (ACP), can also leave women confused about when to start mammograms and how often to repeat them. HealthandMe spoke to experts to understand the correct timing.

So, What Do The ACP Guidelines Say?

The new guidance statement developed by ACP's Clinical Guidelines Committee urged mammography screening once every two years in asymptomatic, average-risk adult females, instead of the annual recommendation.

The ACP guidelines further state that all average-risk females ages 50 to 74 must undergo biennial mammography. It added that women aged 75 years or older with asymptomatic and average-risk can also discuss stopping routine screening with their doctor.

In sharp contrast, the United States Preventive Services Task Force (USPSTF) urges starting annual screening at age 40 to save lives.

What You Should Follow

“Some cancer societies like the American Cancer Society say biennial, while NCCN says annually. We prefer annually starting at age 40 till the woman is in good health, as biennial screening may delay early diagnosis in some cases,” Dr. Ashwani Kumar Sharma, Vice Chairman - Manipal Comprehensive Cancer Centre and Onco Robotic Surgeries, Manipal Hospitals, Gurugram, told HealthandMe.

NCCN, or the National Comprehensive Cancer Network, is an alliance of 34 cancer centers in the US.

Dr. Sharma added that a practical and balanced approach would be to do biennial mammography from 40 to 50 years of age and annual mammography after 50 years of age for maximum benefit.

What Are Mammograms?

A mammogram is a low-dose X-ray that captures detailed images of breast tissue, capable of identifying cancers before any physical symptoms appear.

In women with a BRCA1 or BRCA2 gene mutation who are referred to as "high risk" or with a history of radiation to the chest between ages 10 and 30, screening may start as early as age 30 and include annual breast MRIs alongside mammograms.

Mammograms: What Do India’s Guidelines Say?

Breast cancer in India is usually diagnosed at an advanced stage due to poor health awareness. But of late, there has been an increase in awareness, and more and more women are reporting in their earlier stages with a breast lump.

“Sometimes even this is too late. Breast cancer screening would help us diagnose this disease at an even earlier stage to help increase the chances of a cure from this deadly but treatable disease with the help of simple tests,” Dr Abhijit Kotabagi, Senior Consultant, Department of Surgical Oncology, Yatharth Hospital, Noida, told HealthandMe.

“I would endorse screening and women’s health awareness in our Indian population for women above 40 years after discussion of the pros and cons of screening with a clinician,” he added.

The Indian Council of Medical Research (ICMR) and other health organizations recommend the following guidelines:

1. Women Aged 30-40 Years

• Clinical Breast Examination (CBE) every 1-3 years by a doctor.
• Self-Breast Examination (SBE) every month to check for lumps or changes.

2. Women Aged 40-50 Years

• Annual Clinical Breast Examination (CBE).
• Mammogram (X-ray of the breast) every 2 years if advised by a doctor.

3. Women Above 50 Years

• Mammogram every 2 years (or as recommended by a doctor).
• Continue monthly self-exams and yearly clinical exams.

India is in the peak of summer, with heatwave conditions affecting several parts of the country. The India Meteorological Department (IMD) has predicted that these extreme heat conditions will continue over the next few days, especially across North and Central India.

According to IMD's latest bulletin, heat wave conditions are likely in isolated pockets of Bihar, Haryana-Chandigarh-Delhi, Punjab, East Rajasthan, Vidarbha, Chhattisgarh, and Jharkhand.

The IMD has also forecast a yellow alert for heatwave conditions at isolated places in Delhi from today, with maximum temperatures expected to climb between 41 °C and 44 °C through April 24. The state government has issued guidelines for all schools, focusing on hydration and safety measures.

As temperatures rise, health experts highlighted the disproportionate burden of heat on women and the related physical, social, and financial effects. Studies show women often have higher heat-related mortality rates and suffer from increased fatigue, dehydration, and reproductive health issues.

Women typically face higher risks during heatwaves than men due to

• physiological factors (higher body fat, lower sweat rate),
• hormonal changes (menopause, pregnancy),
• social roles.

How Heatwaves Affect Women Differently

Heat stress is known to interfere with the endocrine system, which disrupts hormonal balance. This means that severe heat can cause delay or interrupt menstrual cycles, causing heavier or more painful periods, and, in severe cases, absence of menstruation. Women with conditions like PCOS or endometriosis face compounded stress.

"Many women report feeling unusually tired, irritable, or drained during heat waves, and hormones can play a role," Dr. Tripti Raheja, Director - Obstetrics & Gynecology at the CK Birla Hospital (R), Delhi, told HealthandMe.

Women are more likely to feel this during certain hormonal phases, such as menstruation, PMS, pregnancy, perimenopause, or menopause.

“Women’s core temperatures rise after ovulation. That, combined with a higher surface area-to-mass ratio, means they absorb heat more quickly,” Mike Tipton, professor and leading expert in applied physiology at the University of Portsmouth, was quoted as saying to Thisdaylive.com.

Women in perimenopause or menopause may experience hot flashes, night sweats, and sleep disturbances, making heat waves exhausting.

Also read:Heatwave Hassles: What Body Odour Could Say About Your Health

Iron deficiency or heavy bleeding can also lower energy levels, and extreme heat may worsen weakness.

Pregnant women naturally have higher metabolic demands, so dehydration and fatigue can set in faster.

Without sufficient hydration, blood flow to the placenta might be reduced, potentially harming the baby. Heat exhaustion in pregnancy can cause early labor or stillbirth. Thyroid disorders and PCOS can also contribute to fatigue and reduced overall energy levels, Dr. Raheja said.

"Long exposure to high temperatures can disrupt the balance between hormones such as estrogen, progesterone, and thyroid hormones, which regulate energy, mood, and metabolism," Dr. Sakshi Goel, Senior Consultant Obstetrics & Gynecology at Rainbow Children's Hospital, Delhi, told HealthandMe.

Dehydration further worsens this by affecting circulation and temperature control, leading to exhaustion, headaches, and dizziness.

Moreover, sleep disturbances from hot nights can impair melatonin production and disrupt overall hormonal rhythms. This leads to poor recovery and low energy the next day.

How Women Can Protect Their Health From Heatwaves

Read: Excessive Energy Drinks Damaging Young Adults’ Livers, Experts Warn

Understanding how heat affects hormonal health lets women take steps to manage fatigue and maintain overall well-being during extreme weather.

To cope better, the experts suggested prioritizing hydration and including ORS when needed.

Dr. Goel noted that even mild fluid loss can hurt circulation and lower the body’s ability to regulate temperature. This can lead to exhaustion, headaches, and dizziness. Other preventive measures include:

• Avoiding long sun exposure during peak hours.
• Eating lighter, balanced meals and avoid stepping out during peak afternoon heat.
• Wearing breathable clothing and ensure adequate sleep in a cool environment.
• Gentle movements, such as walking or stretching, can improve circulation and mood.
• If fatigue is severe, persistent, or associated with dizziness, palpitations, irregular periods, or excessive weakness, it is important to seek medical evaluation rather than dismissing it as just the weather.