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.”

If you believe having a healthy body mass index (BMI) means you have a low risk of heart disease, you may be wrong. A new study suggests that abdominal fat may predict cardiovascular disease risk better than BMI alone.

The study, published in the Journal of the American College of Cardiology (JACC), found that failing to account for waist circumference (WC) or waist-to-hip ratio (WHR) may lead to misclassification of cardiovascular disease risk.

“Indeed, it appears that WC and WHR reclassify risk defined by traditional BMI thresholds,” said Michael J. Blaha, director of clinical research at the Johns Hopkins Ciccarone Center for the Prevention of Cardiovascular Disease.

“We saw individuals with clinically determined normal weight who had elevated central adiposity and high WHR, associating them with higher risk across most outcomes,” Blaha added.

Why BMI Alone May Not Predict Heart Risk

BMI is calculated by dividing weight in kilograms by height in meters squared and is commonly used to diagnose overweight and obesity. However, BMI does not show where body fat is distributed.

• Visceral fat surrounds the internal organs in the abdominal area and is associated with chronic conditions such as heart disease and diabetes.
• Subcutaneous fat is located directly under the skin and is not as strongly associated with these conditions.

What Did the Study Find?

The study examined whether adding WC and WHR to BMI could better predict future cardiovascular risk. Researchers looked at more than 260,000 people over an average of 20 years. They found that central adiposity could identify cardiovascular risk that BMI alone may miss.

Among people classified as having normal weight by BMI:

• 5% had high waist circumference
• 18% had high waist-to-hip ratio

• 39% had high waist circumference
• 40% had high waist-to-hip ratio

• 9% had low waist circumference
• 45% had low waist-to-hip ratio

People with normal weight or overweight who had clinically defined high WC or WHR had a 15%–50% greater risk for most heart problems.

People with obesity and low WC did not have a significantly different risk of outcomes compared with those who had normal weight and low WC, except for all-cause mortality, for which their risk was significantly lower.

“Our findings emphasize the critical role of identifying elevated central adiposity, even in individuals with a normal BMI or with a BMI in the overweight range. Relying solely on BMI may result in misclassification of cardiovascular risk across a wide range of cardiovascular outcomes,” said Zeina A. Dardari, lead author of the study.

“We encourage clinicians to consider central adiposity distribution across the entire BMI spectrum when evaluating cardiovascular risk in primary prevention settings,” she added.

What Were the Study's Limitations?

The researchers did not have information on several factors that can influence cardiovascular disease risk, including:

• Physical activity
• Diet
• Genetic risk for obesity

The study also included only one assessment of waist circumference and waist-to-hip ratio. This limited the researchers' ability to understand how changes in abdominal fat accumulation over time may influence cardiovascular disease risk.

Organ donation is one of the most profound ways in which we can give the gift of life to another person. To raise awareness about organ donation, it is important address common myths and encourage more people to consider pledging their organs.

India has a large number of patients waiting for organ transplants, including transplants of the liver, kidney, heart, pancreas, intestine and other organs and tissues.

Despite the significant need, organ donation rates remain low, with lack of awareness and several misconceptions continuing to be major barriers. One organ donor can potentially save multiple lives. However, for this to happen, it is important that people understand the process and make an informed decision about organ donation during their lifetime.

Busting Common Myths About Organ Donation

1. “My religion does not permit me to donate my organs.”

2. “Organs can only be donated after the heart stops beating.”

For most organs, donation after brain death is possible when the brain has permanently stopped functioning, but the heart is still beating, which generally occurs in an intensive care setting. Corneas can also be donated after death within a limited time period. This is why pledging your organs during your lifetime and discussing your decision with your family is important.

3. “Organ donation will disfigure or mutilate the body.”

Organ retrieval is performed by trained medical specialists in an operating theatre. The surgical incision is carefully closed after the procedure, and the body is not mutilated.

Also read: Post-Organ Donation And Transplant Care: How Can Donors And Recipients Stay Healthy?

4. “I can buy a kidney or liver for my family member.”

5. “If I donate a kidney, I will become weak or handicapped.”

A healthy person who is found suitable for living kidney donation through the required medical evaluation can generally continue their normal life after donation. The remaining kidney is capable of maintaining normal kidney function.

6. “A kidney donor has to take lifelong medicines.”

Kidney donation does not mean that a healthy donor has to take lifelong medication simply because they have donated a kidney. Some pain medication may be required during the initial recovery period, while the remaining healthy kidney continues to perform its function.

7. “I will have severe dietary restrictions after donating a kidney.”

According to the source material, kidney donors do not generally need specific dietary restrictions solely because they have donated a kidney, as the remaining kidney continues to maintain normal kidney function.

8. “I will not be able to have children after donating a kidney.”

Both men and women who donate a kidney can have children. For women, the source recommends waiting one year after donation before becoming pregnant to allow the body to recover completely.

9. “I am over 60, so I am too old to donate.”

Age alone does not determine whether someone can donate. The health of the donor and the condition of the organs are important considerations, and suitability is determined through medical evaluation.

Also read: World Organ Donation Day 2026: Too Old Or Too Sick To Donate Organs? Doctors Bust Key Myths

What Can We Do To Encourage Organ Donation?

• Consider pledging your organs during your lifetime and communicate your decision clearly to your family.

• Talk to your family, friends and colleagues about organ donation and help dispel common myths.

• Encourage community organisations to participate in creating awareness around organ donation.

• Do not assume that you are medically unfit to donate. A team of medical experts evaluates the donor and determines suitability.

• Organ donation is a completely voluntary decision. No individual should be pressured into donating an organ.

• Patients waiting for an organ transplant should approach a licensed transplant hospital and complete the necessary registration formalities, including through the NOTTO system.

Organ donation is ultimately about giving someone another chance at life. We should not take our organs with us; they can be used to save lives and give hope to those waiting for a transplant.

By Dr Sanjeev Gulati, Chairman, Nephrology, Fortis, Vasant Kunj

Anemia remains one of the least talked about threats to a safe pregnancy in India. The National Family Health Survey-5 data shows that 52.2% of pregnant women in India were anemic. This translates to at least one in two expectant mothers entering pregnancy with insufficient hemoglobin to meet her own and her baby’s needs.

Pregnant women with iron-deficiency anemia may feel unusually tired, weak or short of breath. Some women may suffer from dizziness, headaches, palpitations or reduced ability to concentrate. However, symptoms can be subtle and this is why routine antenatal screening is important even if the woman feels well.

Left unaddressed, it raises the risk of preterm birth, low birth weight, postpartum haemorrhage, and maternal fatigue severe enough to affect daily functioning and recovery after delivery.

Severe anaemia can also reduce a woman's ability to tolerate blood loss during delivery, making even an otherwise uncomplicated birth potentially more challenging.

Why pregnancy makes it worse? Well, blood volume expands by nearly 50% during pregnancy, and the growing fetus draws heavily on maternal iron stores, especially in the second and third trimesters. Most Indian women begin pregnancy with iron stores already depleted by poor dietary intake, frequent pregnancies, or heavy menstrual blood loss. So, the added demand tips many into overt anaemia.

Do's:

1. Start Antenatal Care early. You should get a baseline haemoglobin test at your first antenatal visit, and repeat this each trimester or more if needed.

2. Iron and folic acid tablets must be taken in accordance with the prescription given. It is best to start with them before conceiving or as soon as possible in the pregnancy process, preferably in discussion. The dietary consumption may not always be sufficient to cater to the increased demands during pregnancy.

3. Pair iron-rich foods with vitamin C. A squeeze of lemon with dal or leafy greens meaningfully improves absorption. Indian gooseberry (amla), guava, oranges and tomatoes improve absorption of non-heme iron from plant based foods.

4. Include iron-dense foods regularly like leafy greens, jaggery, dates, legumes, eggs. If non-vegetarian, eat lean meat or fish, meat or poultry.

5. Treat underlying causes. Get heavy periods, worm infestations or unexplained fatigue evaluated before conception if possible.

6. Ask about your ferritin level, not just haemoglobin, since ferritin reveals depleted iron stores earlier.

Anaemia is not always caused by iron deficiency. B12 or folic acid deficiency, problems with haemoglobin production, infections, and many other medical conditions can also be contributing factors.

Also read: 'My Periods Are Painful' Is Not Always Normal: When Could It Be A Sign of Endometriosis?

Don'ts:

1. Do not stop iron supplements simply because you feel better. Treatment usually needs to continue for the recommended period to replenish iron stores.

2. Don't take iron tablets with tea, coffee or milk. These block absorption. Space them at least an hour apart.

3. Do not skip supplements because of nausea or constipation. Ask your doctor for alternate formulations instead of foregoing the supplements.

4. Don't assume fatigue is ‘normal pregnancy tiredness’ without a haemoglobin check. Persistent breathlessness, dizziness or a racing heart need evaluation.

5. Don't self-medicate with over-the-counter iron doses. Both too little and too much iron can cause harm.

6. Don't ignore mild anaemia on the assumption that it will ‘sort itself out’. It typically worsens as pregnancy progresses and has to be actively treated.

Anemia in women is mostly preventable and treatable early. Regular antenatal check ups, proper supplementation, balanced diet and timely treatment can go a long way in reducing its impact on the mother and baby. The key message is simple, really. Screen early, do not wait for symptoms, treat appropriately and maintain adequate iron stores throughout pregnancy.