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 American Heart Association (AHA), in its latest update on nutrition guidance, has urged the need to eat a diet rich in vegetables and fruits, while also making a key shift to plant-based protein from meat-based protein earlier to improve heart health.

It has also emphasized the need to reduce the intake of sugar, salt and ultra-processed foods, as well as to switch to low-fat dairy.

The scientific statement, which is issued about every five years, comes amid increasing cases of high blood pressure and obesity in the US, which can potentially lead to poor health outcomes, including deaths from cardiovascular disease and other chronic conditions.

“For healthy eating to be more attainable and sustainable, we recommend people focus on their overall eating pattern rather than specific nutrients or foods. This approach is actionable, something that can be modified as people pass through different life stages, while still adhering to the nine key features,” said Alice H. Lichtenstein, volunteer chair of the scientific statement writing committee and senior scientist.

“The guidance applies to wherever you eat: at home, school, work, restaurants, or in your community. You want to strive for progress rather than perfection. Every time you choose to make a swap for a healthier alternative, you’re making a step toward a healthier life,” added Lichtenstein, who is also senior scientist at the Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University in Boston.

The 9 Guidelines for a heart-healthy dietary pattern include:

• Maintaining a healthy body weight by balancing food intake and physical activity
• Eating plenty of vegetables and fruits
• Choose whole grains such as whole‑wheat bread, brown rice, and oatmeal over refined grains such as white bread or white rice
• Shifting from meat to plant-based sources such as legumes, including beans, peas, and lentils, along with nuts and seeds, and fish and seafood. Select low-fat or fat-free dairy products.
• Replace saturated fats with healthy unsaturated fats, including those from nuts, seeds, avocados, and non-tropical plant oils.
• Choose minimally processed foods instead of ultra-processed foods
• Limit beverages and foods with added sugars
• Choose foods low in sodium and prepare foods with minimal or no salt
• Limit intake of alcohol

Also read: AHA’s New Dyslipidemia Guidelines Stress Early Screening, Lifestyle Management

Healthy Eating Patterns From Childhood

The 2026 guidance for children recommends a heart‑healthy dietary pattern starting at 1 year of age. It urges families to play a significant role and become role models.

“Cardiovascular disease begins early in life; even prenatal factors can contribute to increased risk in children as they grow. So, it’s important that healthy eating patterns are adopted in childhood and continue throughout the entire lifespan,” Lichtenstein said.

“The best way to do that is for adults to role model heart-healthy eating patterns inside and outside the home,” she added.

Also read: Cardiovascular Diseases Lead As India’s Top Killer: US Cardiologist Points Out Risk Factors

While the updated guidance is specifically designed to improve cardiovascular health, it may also help improve other conditions like type 2 diabetes, kidney disease, some cancers, and brain health.

Breast cancer treatment has evolved significantly over the past few decades, moving from radical removal approaches to more personalized and tissue-preserving techniques. Today, surgeons no longer view breast conservation surgery (BCS) and mastectomy as competing options, but as equally effective strategies chosen based on individual patient needs.

With the growing availability of reconstructive surgery in Kolkata, patients now also have better cosmetic and psychological outcomes regardless of the surgical path they choose.

Understanding The Two Surgical Options

When faced with a breast cancer diagnosis, understanding the available surgical options is crucial for making an informed decision. Each approach is designed to effectively treat the disease while considering the patient’s long-term health, comfort, and quality of life.

What Is Breast Conservation Surgery (BCS)?

Breast conservation surgery, or lumpectomy or partial mastectomy, is a procedure that involves the removal of the tumor and a small amount of surrounding healthy tissue while preserving most of the breast.

The main objective is to remove cancer without altering the natural shape and appearance of the breast. Radiation therapy is usually administered after surgery to kill any remaining cancer cells and minimize the chances of recurrence.

What Is A Mastectomy?

Mastectomy is the removal of the whole breast tissue, and in other cases, the lymph nodes and skin around the breast. It can be done on either breast or both breasts based on the type of cancer and risk factors.

After a mastectomy, patients can choose to have breast reconstruction with the help of modern surgical procedures, such as those provided in reconstructive surgery in Kolkata, which can help to restore the shape and symmetry of the breast.

Major Differences Between BCS And Mastectomy

The basic distinction is the degree of tissue excision. BCS leaves the majority of the breast, but a mastectomy takes away all of it.

Notably, several studies indicate that both methods have equal chances of survival in the long term in early-stage breast cancer.

Eligibility Criteria: Who Can Opt For What?

Not every patient is suited for the same surgical approach, as the choice largely depends on individual clinical factors. Tumor size, stage, location, and overall health all play a crucial role in determining eligibility. Understanding who can opt for which procedure helps ensure both effective treatment and optimal long-term outcomes.

Candidates for Breast Conservation Surgery

BCS is usually prescribed to patients with:

• Stage I or II breast cancer
• Tumors smaller than 5 cm
• One tumor in one area
• No radiation therapy contraindications
• Some cases do not have high-risk genetic mutations like BRCA

It might not apply to patients who have more than one tumor in other parts of the breast or those with advanced disease.

Candidates for Mastectomy

Mastectomy may be suggested when:

• The tumor is huge in comparison with the size of the breast
• It has several tumors in various quadrants
• Cancer is metastatic (Stage III or IV)
• The genetic risk of recurrence is high in the patient
• Radiation therapy is not an option or choice

Moreover, other patients might opt to undergo mastectomy to have a sense of security or to alleviate the fear of recurrence.

Advancements In Breast Surgery

The current surgical advances have greatly enhanced the results, particularly in patients who want to preserve their breasts.

Oncoplastic Surgery

Among the most remarkable developments is the oncoplastic breast surgery that involves the use of both cancer resection and plastic surgery. This enables the surgeons to excise bigger tumors without altering the shape and symmetry of the breast.

This has increased the eligibility of BCS so that more women can avoid mastectomy and still have safe control of cancer.

Improved Imaging and Targeting

Modern imaging techniques have assisted surgeons in accurately identifying tumors so that they can be fully removed without damaging normal tissue. This enhances cosmetic outcomes as well as oncological safety.

Advanced Reconstruction Methods

The emergence of reconstructive surgery in Kolkata has given patients who have undergone mastectomy the opportunity to have an immediate or delayed reconstruction with the help of implants or autologous tissue.

Reconstruction has been brought to improve psychological well-being, body image, and quality of life.

Influencing Factors of Surgical Decision-Making

The decision to use BCS or mastectomy is not only a medical choice, but a very personal one, which depends on several factors:

1. Cancer Stage and Tumor Characteristics

The main determinants include tumor size, location, and spread. BCS is more appropriate in early-stage cancers, whereas mastectomy is usually necessary in advanced cases.

2. Survival and Recurrence Outcomes

It has always been demonstrated that the survival rates are the same with BCS (including radiation) and mastectomy in the case of early-stage cancers. Nevertheless, BCS can be slightly more likely to recur locally, which can be treated.

3. Patient Preference

A major role is played by emotional and psychological factors. There are those patients who want to keep their breasts, and others opt to undergo a mastectomy to have peace of mind. Studies show fear of recurrence is a major driver for choosing mastectomy.

4. Access to Radiation Therapy

Since BCS requires post-operative radiation, access to treatment facilities can influence the decision. Patients without easy access may opt for a mastectomy.

5. Cosmetic and Quality-of-Life Concerns

BCS tends to provide superior cosmetic results and satisfaction. Nevertheless, the modern methods of reconstruction have also helped to enhance the results of mastectomy patients considerably.

What Do Surgeons Recommend Today?

Modern breast surgeons support a multidisciplinary patient-centered approach. Instead of prescribing a single solution, they consider:

• Clinical (tumor size, stage, genetics)
• Access to care and patient lifestyle
• Motivational preparedness and individual interests

Surgeons are increasingly preferring breast conservation surgery in most of the early-stage cases because of its good results and quality-of-life advantages. Nevertheless, mastectomy is necessary in more complicated or risky cases.

Conclusion

The debate between breast conservation surgery and mastectomy is no longer about which is superior, but about which is most appropriate for the individual patient. Oncoplastic techniques and reconstructive surgery in Kolkata have advanced, and patients now have a choice of safer, more personalized, and cosmetically satisfying options.

Heart failure has quietly emerged as one of India’s most serious and underestimated health challenges, driven by a rise in hypertension, diabetes, obesity, and delayed diagnosis of heart disease.

Due to a shortage of donor organs and a long waiting period before receiving the right treatment, end-stage heart failure patients in India faced a lot of difficulties a few years ago.

Today, advancements in heart transplant techniques are changing the situation from what was once an untreatable condition to a second chance at life.

Data from the National Organ and Tissue Transplant Organization (NOTTO) shows a significant year-on-year rise in heart transplants, with 253 transplants done in 2024, showcasing improved organ donation awareness, better coordination between hospitals, and stronger transplant networks.

What was once considered the only option is now emerging as a life-saving solution, offering patients not just a second chance but a return to a more meaningful and active life.

Why Are Heart Transplants Needed?

A heart transplant offers hope and gives a second life to patients whose hearts no longer support the body even after the best available medical aid.

Although it is never performed instantly, it becomes necessary whenever conditions of the heart result in end-stage heart failure, where the pumping function of the heart is compromised.

Also read: Harish Rana’s Family Donated His Heart Valves And Corneas After His Death From Passive Euthanasia

When medications and modern technologies cannot supply an adequate amount of blood and oxygen to the organs, patients experience extreme breathlessness, fluid buildup, fatigue, and repeated hospitalizations, making even simple activities like walking, eating, or lying flat exhausting.

As the flow of blood continues to deteriorate, failure is also expected in other vital organs such as the kidneys and liver. It is at this point that the transplantation of the donor heart is considered the only treatment option to ensure that the blood flow is normalized.

How Heart Transplantation Transforms Life?

Heart transplant is not just a surgical replacement of a failing organ, but a complete life restoration for patients with end-stage heart failure.

Its benefits include:

• Normalizes Heart Functioning: A healthy donor heart can immediately restore normal and effective blood flow. This will reduce weakness and fatigue that makes carrying out everyday tasks rather difficult.
• Enhances Survival Rates: Patients diagnosed with end-stage heart failure can only experience the best post-transplant survival outcomes when they undergo the transplant procedure as compared to other medical treatments.
• Enhances Quality of Life: The patients are able to attain independence once again as they are able to walk, sleep, travel, and socialize with their families and friends.
• Prevents Frequent Hospitalization: The successful transplant procedure prevents constant hospitalization, especially in cases with deteriorating heart failure, infections, and organ dysfunction.
• Protects Other Vital Organs: By restoring adequate blood flow, heart transplantation helps reverse damage to the kidneys, liver, and lungs caused by prolonged heart failure
• Permits Return to Normal Roles and Responsibilities: Patients regain their ability to work, take care of others, and carry out their daily responsibilities, which helps their emotional well-being.