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.”

The biological landmarks that occur in a woman’s life include many factors and menopause is one of them. Menopause is usually identified with changes in menstrual cycle, hormone levels, hot flashes and even emotional health. Nevertheless, this stage of a woman’s life is also characterized by some other things and needs to focus on woman’s cardiovascular system.

Heart problems have long been considered as the problem that concerns mostly men. Nevertheless, today it is known that cardiovascular diseases still kill more women than anything else and take the lives of almost one-third of all women in the world.

The Hormonal Shift That Changes Heart Risk

Until menopause, estrogen gives the cardiovascular system a number of advantages. It maintains the proper state of the blood vessels and assists in cholesterol regulation and proper vascular functioning. But when the woman gets into menopause, the drop of oestrogen level can cause various internal alterations. They include the increase of LDL cholesterol level, the decrease of HDL cholesterol level, elevated blood pressure, metabolic alterations and abdominal fat accumulation.

All those alterations will increase the chance of getting cardiovascular diseases, such as coronary artery disease, stroke and heart failure. According to the American Heart Association, the women become at greater risk for cardiovascular diseases after going through the process of menopause.

Also read: Is Controlling BP Enough After a Brain Bleed? Doctors Explain How to Prevent Another Stroke

Why Women Need Proactive Heart Health During Menopause

On the other hand, women may suffer from various symptoms that are associated with heart disease but differ from those in men. For instance, fatigue, breathlessness, nausea, lightheadedness, jaw pain, back pain or arm pain can sometimes go unnoticed and are misdiagnosed.

Therefore, awareness and medical consultation are vital. Health checkups, blood pressure and cholesterol monitoring, living healthy, eating healthy and individualized medical advice can greatly help in decreasing risks in the future.

Also read: Preeclampsia May End With Pregnancy. Your Heart Risk May Not

The Role of Comprehensive Women’s Healthcare

Treatment for menopause should not be restricted to treating symptoms; it should include care during the entire period of health transition.

Every woman's individual health requirements and guidance through various phases of life should be in accordance with her health needs.

Redefining Menopause: A Phase of Awareness, Not Fear

Menopause should never be seen as a deteriorating process but as a turning point where women can assess the state of their health and adopt preventative measures for their healthcare.

Ahead of World Heart Day, the issue of women’s heart health should go beyond just treating heart diseases and focus on preventive measures. It is not only about asking: “how do we treat heart disease in women?” It is also about asking: “how do we detect risk factors and help each woman protect her heart during one of the most critical periods in her life?” For when women understand what is going on in their body, they get the ability to make the right decisions about their health.

By Dr. Anupama Gangwal, Senior Consultant – Obstetrics and Gynaecology, Cocoon Hospital, Jaipur

Polycystic ovarian syndrome (PCOS), now renamed polyendocrine metabolic ovarian syndrome (PMOS), can begin during adolescence and affect metabolic health, fertility and mental health, AIIMS experts said.

Speaking at a press conference in Delhi, the experts discussed PCOS risk factors, diagnosis in teenagers and the role of lifestyle management.

Obesity and sedentary habits can increase risk, but irregular periods or polycystic-looking ovaries on ultrasound do not automatically mean PCOS. Menstrual irregularity and ovarian changes can be normal during adolescence, making accurate diagnosis important.

Irregular Periods: When Is It Abnormal?

Irregular periods are common in the first year after menstruation begins. Dr. Rajni Sharma, Professor, Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, said: “It is normal and physiological.”

However, persistent irregularity should be evaluated.

“But if they are irregular even after one year, like their duration is coming in between, duration more than 45 days up to 3 years, or after menarche, after 3 years up to 35 days cycle, or less than 21 days cycle, or less than 8 times per year cycles, or their gap is more than 3 months, then we should think that they are irregular and they should be investigated,” she said.

Also read: Why Rebranding PCOS As PMOS Could Mark A New Era In Women’s Health

PCOS Diagnosis: Ultrasound May Mislead

Ultrasound is not routinely used to diagnose PCOS in adolescents because polycystic-looking ovaries can be normal during this stage, Dr. Rajni said.

Dr. Renu Sharma, Child Psychologist, Department of Psychiatry, AIIMS, said such findings can also cause unnecessary anxiety.

“Many times, many families come out of fear because there is a polycystic appearance in an ultrasound.”

Some girls may have PCOS-like features without meeting the diagnostic criteria and may instead be considered at risk.

“We call it at risk of PCOS. At this stage, it is best to focus on diet and lifestyle.”

What Raises PCOS Risk?

Family history, obesity, type 2 diabetes and lifestyle factors can increase PCOS risk, Dr. Rajni said.

“Especially if there is type 2 diabetes, obesity, all these things are there, or mother, or her aunt had PCOS, then the risk increases.”

Poor diet and physical inactivity can also contribute.

“They are not eating fiber, fruits, vegetables. And they are consuming more junk food. And, one is, sedentary activity,” she said.

However, PCOS can also occur in girls with normal weight. “Many normal girls can also have it. Normal weight girls.”

Facial Hair Can Affect Mental Health

Facial and body hair can affect self-image and self-esteem in adolescent girls with PCOS, Dr. Renu said.

“These young adolescent girls suffering from PCOS have very significant psychosocial issues," said the expert, adding that anxiety and depression are very common.

They also develop some eating disorders such as anorexia or bulimia, she said, noting that the adolescent's "self-perception, or self-concept, starts becoming negative.”

What Can Parents Do?

Lifestyle management is an important part of managing PCOS risk and symptoms. Dr. Vandana recommended healthier food choices and regular physical activity.

“You can make a lot of things at home, with good healthy ingredients.”

“Second, in general, you should eat more salads. You should eat more colorful fruits and vegetables, so we talk about this.”

She also stressed the importance of avoiding a sedentary lifestyle, and stressed the need for "one hour of physical activity of moderate to vigorous level daily".

“This means that, while doing that activity, you are not able to talk normally. If you can talk normally, then it means that the activity is not of moderate to vigorous level.”

Most women who've had preeclampsia remember it as something that happened during pregnancy. The blood pressure spiked, doctors kept a close watch, the baby arrived, and everything went back to normal.

Case closed, or so it seems. But there's a quieter part of this story that doesn't get told nearly enough - what preeclampsia might mean for a woman's heart years down the line.

So, What Is Preeclampsia?

It's a condition that can happen after the 20th week of pregnancy, when blood pressure rises sharply and starts putting pressure on organs like the kidneys or liver. During preeclampsia, the lining of blood vessels - the endothelium - becomes inflamed and doesn't relax and dilate the way it normally should.

This is the same vessel dysfunction we see in the early stages of coronary artery disease, just decades ahead of schedule. Doctors usually catch it through routine checks - protein in the urine, sudden swelling, or blood pressure readings that don't sit right.

Once the baby is delivered, blood pressure almost always comes back down. That "return to normal," though, doesn't mean the story is over.

Also read: Vitamin D & Pregnancy: Could Vitamin D Deficiency Increase Risk Of Premature Birth?

A Pregnancy Complication with a Long Impact on Heart

Think of preeclampsia as an early stress test that the heart didn't quite pass. It is associated with increased risk of hypertension in future and also increase the risk of heart failure, stroke and cardiovascular diseases. And this isn’t a risk that shows up only in old age, in some cases, death happens within the first 10 years after pregnancy.

The risk of heart failure also increases by four-fold and the risk of coronary heart disease by two folds in patients with preeclampsia. The risk of ischemic heart disease and hypertension is elevated too. The risk increases further if preeclampsia occurred early in pregnancy, during multiple pregnancies, or alongside other factors like obesity or a family history of heart disease.

It highlights the importance of life law monitoring of cardiovascular rest factors in a woman who has history of preeclampsia.

Also read: PMOS Isn't Just About Periods Or Pregnancy: Why Women Need To Think Beyond Fertility

The Part of Care That Often Gets Skipped

Once the baby is here, attention naturally shifts entirely toward the newborn - and a new mother's own follow-ups tend to fall away quietly, usually right after that standard six-week check. That's the gap, we need to close in postpartum care. Women with a preeclampsia history should regularly monitor their blood pressure, cholesterol and blood sugar, and actually bring these numbers up during the consultation.

None of this means preeclampsia guarantees heart disease down the road. It just means the risk picture has shifted, and that's worth knowing. Staying active, eating well, keeping weight in check, and staying away from smoking helps reduce the risk.

More obstetricians and cardiologists are starting to treat preeclampsia as something to track for life, not just for nine months. That shift in thinking could end up protecting a lot of hearts long after the pregnancy itself is over.

By Dr Waseem Farooqui, Consultant, Interventional Cardiology, Cardiac Care, Medanta Hospitals, Noida