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.”

Air pollution has now become an inevitable aspect in many Indian cities, whether it is vehicular emissions, dust from construction activities, industrial pollutants, or smoke from burning crops. Some of the worst pollutants from the health point of view are those comprising PM2.5 (particulate matter 2.5).

Particulate matter 2.5 means the fine particulate matter measuring 2.5 microns in diameter or smaller, which is roughly 30 times smaller than the diameter of a human hair.

Due to their microscopic size, these particles can enter deep inside the lungs and even the blood stream. The WHO and the IARC have labeled outdoor air pollution and particulate matter as a carcinogen, which implies that it can lead to increased risk of cancer.

How does PM2.5 increase cancer risk?

Long-term exposure to PM2.5 is responsible for causing inflammation and oxidative stress within the body. Inflammation and oxidative stress will eventually result in DNA damage leading to an abnormal growth of cells.

The link between exposure to PM2.5 and cancer is well-documented, with lung cancer being the most established one, while others are still under investigation. According to WHO guidelines, long-term exposure to PM2.5 is linked to higher lung cancer mortality rates, even at lower concentrations.

This is highly relevant to India because air pollution in many Indian cities exceeds WHO recommendations.

Also read: Exposure To Air Pollution May Harm Male And Female Fertility, Expert Reveals

Practical ways to reduce your exposure

Even though individual measures may not solve the problem of air pollution completely, they do help to minimize personal exposure.

1. Keep an eye on the daily air quality

Monitor the AQI index before engaging in any outdoor physical activity and on polluted days, try to reduce the amount of time you spend outdoors.

2. Avoid pollution peaks

Early morning and late evening are typically times when pollution level is high. Plan your outdoor activities on less polluted days.

3. Use an N95 mask

When going out, especially commuting, during the days of high pollution use an N95 mask that helps to filter fine particles.

4. Improve indoor air quality

Close windows during heavy air pollution and install a HEPA filter air purifier if needed, especially for kids, elderly people and those who suffer from lungs diseases.

5. Reduce indoor pollution sources

Do not smoke indoors; use less incense and mosquito coil indoors, and make sure there is a good ventilation system in the kitchen when you cook.

6. Take care of general lung health

Never smoke, keep physically active during the days of decent air quality, and eat nutritious food with lots of fruit and veggies.

The bigger picture

Protecting yourself from the health risks of PM2.5 can be done by both individual means and also collective efforts. More sustainable modes of transport, better emission control policies, improved waste disposal facilities, and sound urban planning practices will become necessary eventually. In the meantime, we only have our knowledge and preventive steps to safeguard our health.

By Dr. Reshma Puranik, Cancer Physician, MOC Pune

Robotic thyroid surgery is a minimally invasive technique in which the surgeon uses robotic instruments to remove part or all of the thyroid gland. Unlike conventional surgery, which requires an incision on the front of the neck, the robotic approach uses small incisions hidden in the armpit and chest to access the thyroid, thereby avoiding a visible neck scar while maintaining surgical precision.

However, one of the biggest misconceptions about robotic surgery is that the robot performs the operation independently. It does not. Every movement is completely controlled by the surgeon, who sits at a console and guides the robotic instruments with exceptional precision. The technology essentially extends the surgeon's capabilities by providing a high-definition, three-dimensional and magnified view of the surgical field, along with highly flexible, wristed instruments.

Precision beyond the cosmetic advantage

The absence of a visible neck scar is undoubtedly a major advantage, especially for patients concerned about their appearance. However, robotic thyroid surgery is far more than a cosmetic procedure.

The robotic system provides high-definition, magnified 3D vision and wristed instruments that allow meticulous dissection around delicate structures such as the recurrent laryngeal nerves and parathyroid glands. This precision helps preserve these vital structures, minimizing the risk of nerve injury, voice changes, and parathyroid dysfunction. Tremor filtration and enhanced dexterity further improve surgical accuracy.

Together, these advantages result in less tissue trauma, reduced postoperative pain, faster recovery, and excellent functional and cosmetic outcomes.

Also read: Why Your Thyroid Test Results Can Vary Between Labs?

Is robotic surgery suitable for everyone?

Not every thyroid patient is a candidate for robotic surgery. Patients with thyroid nodules, selected early thyroid cancers and certain benign thyroid enlargements may be considered after detailed evaluation.

So, patients with very large goitres, advanced thyroid cancers involving surrounding structures or certain complex medical conditions may be better suited to conventional open surgery.

Therefore, patient selection remains one of the most important aspects of robotic thyroid surgery.

There is a common belief that robotic thyroid surgery is meant only for young patients who want to avoid a neck scar. Is that true?

No. While the absence of a visible neck scar is certainly an attractive cosmetic benefit, it is not the main advantage of robotic thyroid surgery. The real strength of robotic technology lies in its precision, which minimizes tissue trauma, reduces postoperative pain, and promotes faster recovery.

Most patients require pain medication for only 48–72 hours after surgery. These benefits are particularly valuable for elderly patients, who often recover more comfortably and can avoid prolonged use of painkillers. Therefore, age is not a criterion for robotic thyroid surgery. Suitability depends on the nature of the thyroid disease and careful patient selection.

Also read: Breaking Down Weight Gain: The Role Of Hormones And Stress- Know What Really Works For Effective Management

What about voice changes?

One of the major concerns after thyroid surgery is voice alteration, as the recurrent laryngeal nerve, which controls the vocal cords, lies in close proximity to the thyroid gland. The magnified 3D view and wristed robotic instruments enable meticulous identification and preservation of this delicate nerve during surgery.

Although no surgical technique can completely eliminate the risk of complications, the enhanced precision and superior visualization offered by robotic surgery help minimize the risk of nerve injury while ensuring careful preservation of other vital structures.

Is recovery faster?

Recovery after robotic thyroid surgery varies from patient to patient. Most patients are able to walk within a few hours after surgery and are discharged within one to two days. In our experience, pain is usually mild, with most patients requiring pain medication for only 48–72 hours.

As there is no incision on the front of the neck, swallowing and neck movements are often more comfortable during recovery. Reduced postoperative discomfort can be particularly beneficial for elderly patients, in whom prolonged use of pain medication may be undesirable.

Growing adoption in Eastern India

Our Department of Advanced Robotic Surgery has emerged as one of the highest-volume centres for robotic thyroid surgery in Eastern India, currently performing approximately 3–4 robotic thyroid procedures every month. As awareness among patients and referring physicians continues to grow, this number is steadily increasing.

Our experience has been highly encouraging, with no permanent voice changes or major complications reported among our robotic thyroid surgery patients to date. These results reinforce an important message: while robotic technology is a powerful tool, its success ultimately depends on careful patient selection and the experience of the surgical team.

Thyroid surgery need not be a cause for fear. Modern surgical techniques have made treatment safer, more precise, and increasingly patient-friendly. For appropriately selected patients, robotic thyroid surgery offers the advantages of exceptional surgical precision, reduced tissue trauma, faster and more comfortable recovery, and the significant cosmetic benefit of avoiding a visible neck scar.

By Dr. S. K. Bala, Surgical Oncologist and Robotic Surgeon, CK Birla Hospitals, CMRI

Many women may come across the term "breast density" following a mammogram, but not all of them fully understand what it implies. The fact that someone has dense breasts does not mean that they have cancer or that they will definitely get it.

On the other hand, greater breast density can be linked to a higher risk of breast cancer and may also make it more difficult to detect certain cancers on a mammogram.

What Is Breast Density?

The breast density is the ratio of fibrous and glandular tissue to fatty tissue in the breast. Dense breast tissue is a normal variation and is especially frequent in younger women. It should be clear that women cannot tell themselves if their breast has dense tissue or not; it has to be assessed using breast imaging, typically a mammogram.

Breast density is usually divided into four types, going from almost all fatty tissue to very dense tissue, and women who have heterogeneously dense or extremely dense breasts are at a greater risk of developing breast cancer than women whose breasts are mainly fatty.

Also read: Alcohol-Linked Cancer Deaths Doubled In US: Colorectal Leads In Men, Breast Leads In Women

What Do Dense Breasts Indicate?

A major concern is that on a mammogram dense tissue appears white, just as many breast abnormalities—some of which are cancers—do too. This makes it harder for radiologists to spot certain abnormalities. Women need not be alarmed if their mammogram report states that their breasts are dense.

Breast density is just one of the factors to take into account when evaluating the risk of breast cancer; family history, age, past breast conditions, genetic mutations, hormonal factors, reproductive history, and lifestyle must also be considered.

It will depend on a woman's total risk level whether or not further screening is needed. Although mammography is still an important method of screening, in certain individual cases a doctor may suggest extra imaging, for example breast ultrasound or magnetic resonance imaging (MRI). Such tests are not required automatically for every woman who has dense breasts.

Also read: How Scientists Blocked Drug-Resistant Triple-Negative Breast Cancer With A Two-Step Drug Method

What Should Women Do?

Women should also know what is normal for their breasts. If a new lump is detected, there is a persistent change in the shape or size of the breast, the skin becomes dimpled, the nipple turns inwards, there is an unusual discharge from the nipple or there is ongoing discomfort, then it is advisable to have a healthcare professional look at it. Yet the majority of breast changes are not cancerous and symptoms by themselves are not enough to make a diagnosis.

Lifestyle plays a big role in maintaining breast health. One way of reducing the overall risk of breast cancer is to keep a healthy weight, remain physically active, limit alcohol intake, avoid tobacco, eat a well-balanced diet and stick to the recommended screening programmes.

Women must not regard breast density as a diagnosis. The main point is that women should not be afraid of dense breasts but should understand what this means for them. They must talk to their family doctor about their mammography report and their individual risk factors and then follow a screening programme suitable to their risk.

Breast density is therefore a valid reason for having a screening examination, not one for concern. By understanding breast density and talking to a breast specialist, women can make informed choices regarding screening and make sure that any potential abnormalities are assessed as early as possible.

By Dr. Meghal Sanghavi, Consultant Onco Surgeon, Wockhardt Hospital, Mumbai Central