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.”

Sickle cell disease (SCD) is one of India’s most pressing inherited blood disorders, with an estimated 1 in 86 births among tribal and disadvantaged groups affected.

Despite advances in diagnostics and treatment, families continue to face uncertainty, stigma, and limited awareness.

Why Genetic Counselling Matters

A crucial distinction often overlooked is between sickle cell trait (SCT) and sickle cell disease. Carriers with one gene are usually healthy but can pass the trait to their children, while those with two defective genes live with lifelong complications.

When both parents carry SCT, each child has a 50% chance of inheriting the trait and a 25% chance of developing the disease. This is why genetic counselling must be recognized as an integral part of the care continuum.

Genetic counselling provides clarity on inheritance patterns, transmission risks, and reproductive choices. In high-prevalence communities, it serves as a preventive strategy. Counselling is equally vital after diagnosis, guiding parents on managing complications, navigating education and employment, and preparing adolescents to understand their carrier status before marriage.

Also read: Sickle Cell Disease: Why India Must Add Curative Treatment to Meet Its 2047 Elimination Goal

The Role of National Sickle Cell Anemia Elimination Mission

India’s National Sickle Cell Anaemia Elimination Mission (2023) prioritizes screening in high-burden states, with clear objectives:

• to provide affordable, accessible, and quality care to all SCD patients;
• reduce prevalence through awareness campaigns and premarital genetic counselling;
• conduct targeted screening and early detection using validated Point-of-Care Testing (POCT) kits;
• ensure holistic management through primary, secondary, and tertiary healthcare facilities;
• enable community involvement by linking patients with social security schemes.

Embedding counselling into primary healthcare ensures every positive test is followed by culturally sensitive, professional support.

Sickle Cell Disease: Tackling Stigma and Misconceptions

SCD is often misinterpreted as a curse or lifestyle issue, leading to stigma and blame. Such misconceptions not only deepen emotional distress but also delay timely medical intervention. Genetic counselling reframes the condition as a scientifically understood, inherited disorder, shifting the narrative from superstition to evidence-based care.

By normalizing dialogue, it drives empathy-centered healthcare conversations and strengthens community resilience.

SCD is also often misinterpreted as a curse or lifestyle issue, leading to stigma and often blame. Such misconceptions not only deepen emotional distress but also delay timely medical intervention.

Genetic counselling reframes the condition as a scientifically understood, inherited disorder, shifting the narrative from superstition to evidence-based care. By normalizing dialogue, it encourages empathy-driven healthcare conversations and strengthens community resilience.

Sickle Cell Disease: Why Genetic Counseling Is Important

Sickle cell care cannot stop at diagnosis; counselling must accompany patients across every life stage from childhood through adolescence, marriage, pregnancy, and adulthood. This continuity transforms care from reactive to proactive, ensuring families are never left alone in their journey.

At the same time, awareness, education, and collaboration among clinicians, policymakers, patient groups, and communities are essential. Genetic counselling serves as the bridge between science and lived experience, enabling informed choices, reducing stigma, and promoting compassionate care that strengthens both families and the wider community.

(The author is Dr Manisha Madkaikar, Director - ICMR-National Institute for Research on Blood and Immune Disorders – Mumbai).

In today's busy routines, acidity is a common complaint — almost one in five people take an acidity tablet. Most of us don't think twice before reaching for one.

A little heartburn after dinner, some burning in the chest, a feeling of heaviness - one pantoprazole tablet and the problem seems solved. And for many people, it quietly becomes a habit that they continue taking for weeks and sometimes even months.

Why This Matters for Cancer Patients

In limited doses and under medical guidance, an acidity tablet is largely considered safe. But this is not true for everyone. For patients undergoing immunotherapy for kidney cancer, that small tablet may be doing more than just controlling acidity.

A patient comes in for follow-up. The scans look encouraging. Treatment is going as planned. And then, almost casually, they mention that they have been taking pantoprazole every morning for acidity for several years without proper medical advice. Most patients genuinely don't think it's important enough to mention. But newer research suggests it might be.

The Gut Microbiome Connection

It is because the digestive system holds trillions of bacteria collectively called the gut microbiome. Once thought to help only with digestion, they are now known to be deeply connected to the immune system.

Our gut bacteria are a training ground for our immune army. If that ecosystem is disturbed, the immune response may not be as effective as we want it to be.

This is where these proton pump inhibitor medicines, such as pantoprazole, omeprazole, and rabeprazole, can also alter the balance of gut bacteria by suppressing acid production in the stomach. This seemingly minor change may have a stronger effect.

What Does Research Show

A study published in the Journal of Cancer Research and Clinical Oncology looked at patients with advanced kidney cancer receiving immunotherapy, comparing those who regularly used PPIs with those who did not.

The difference surprised many oncologists. Patients who were not taking daily PPIs had a progression-free survival of around 9.7 months, and for regular PPI users, it was around 6.4 months. When overall survival was measured, the gap was even wider — about 14.6 months for daily PPI users compared with roughly 30 months for non-users.

And this is not a one-off finding. When researchers pooled fourteen studies covering 6,716 cancer patients on immunotherapy, PPI users still carried roughly a 39 percent higher relative risk of death and a 29 percent higher risk of the cancer progressing. A larger 343-patient kidney cancer study echoed the very same direction. Although not every analysis agrees on how big the effect is — some of the most recent data suggest it may be more modest — but the arrow keeps pointing the same way.

An Important Caveat

One important caveat runs through all of it: these are observational studies, not controlled trials. PPI users are often older and have more illnesses, which can independently worsen outcomes, so the pill cannot yet be said to cause the difference.

A finding this consistent cannot simply be ignored. It deserves to be part of the discussion before treatment starts. He added that PPIs are also recognized, quite separately, as an occasional cause of kidney injury — one more reason their use is worth reviewing rather than continuing on autopilot.

Don't Stop Your Medication Suddenly

At the same time, stopping acidity medicines overnight is not the solution. When patients suddenly stop PPIs, they can experience severe rebound acidity. That's why any change should happen only after discussing it with the treating doctor.

Simple Steps Patients Can Take

A practical piece of advice would be to carry a complete list of medicines to every oncology appointment — not just cancer medicines, but everything.

Prescription drugs, over-the-counter tablets, supplements, and even home remedies. Sometimes alternatives are available. Sometimes simple dietary changes help — smaller meals, less spicy food, avoiding late-night eating. Simple measures, but often effective.

Remember, cancer treatment is not only about the drug. It is also about everything happening around the drug. The food people eat. The medicines they take. Their daily habits. Small things can sometimes influence big outcomes.

(Dr Veenoo Agarwal, Head of Medical Oncology at Shalby International Hospital, Gurugram)

Even though Sickle Cell Disease (SCD) affects thousands of families across the country, it continues to remain one of India's most under-recognized health challenges.

The National Sickle Cell Elimination Mission, launched in 2023, has brought renewed focus to the disease, with the goal of reducing the incidence of new sickle cell disease cases to zero by 2047.

The mission has largely focused on prevention and supportive care, but a comprehensive 360-degree approach is still missing, Dr. Gaurav Kharya, Clinical Lead, Centre for Bone Marrow Transplant & Cellular Therapy, Senior Consultant, Pediatric Hematology, Oncology and Immunology, Indraprastha Apollo Hospitals, New Delhi, told HealthandMe.

“The current framework does not adequately address patients who continue to suffer from severe sickle cell disease despite receiving optimal supportive care,” Dr. Gaurav said.

“Such patients may be candidates for curative approaches such as bone marrow transplantation and, in the future, gene therapy. At present, bone marrow transplantation remains the available curative option,” he added.

Dr. Gaurav noted that for decades, treatment focused primarily on controlling symptoms and managing complications. The mission led to free genetic screening cards, lifestyle counseling, and access to symptom-managing medication.

"While these measures remain important, advances in stem cell and bone marrow transplantation have changed the treatment landscape for selected patients”.

Also read: India Will Eradicate Sickle Cell Disease Ahead of 2047 Target, Says President Murmu

The Sickle Cell Mission does not currently address transplant support or provide specific directives to state governments regarding curative treatment.

“The impact of these interventions can be life-changing. Children who once depended on repeated hospital visits, blood transfusions and constant medical care may be able to look forward to healthier and more independent lives after successful treatment,” Dr Gaurav said.

The expert called for “incorporating support for curative therapies and allocating dedicated funding could strengthen the program and create a truly comprehensive approach that focuses equally on prevention, supportive care and curative treatment”.

Achievements of Sickle Cell Mission

Also read: Your Kidneys Could Be Silently At Risk From Work Stress And Unhealthy Habits, Experts Warn

India contributes a significant proportion of global sickle cell births every year, making it a major public health concern.

The disease is particularly prevalent in several regions of India, especially among tribal and underserved populations in states such as Madhya Pradesh, Maharashtra, Chhattisgarh, Gujarat, Odisha and Rajasthan.

One of the major achievements of the Sickle Cell Elimination mission has been bringing attention to a disease that had long remained neglected. Previously, policy-making, implementation, and fund allocation for sickle cell disease in high-burden states were limited.

The mission has brought a strong focus on sickle cell disease, prompting states with a high disease burden, including Madhya Pradesh, Chhattisgarh, Odisha, Gujarat and Maharashtra, to actively work on policy-making and implementation.

The primary objective of the mission has been prevention. Dr. Gaurav told HealthandMe that prevention can only happen when individuals know their sickle cell status and whether they carry the gene responsible for the disease.

“Once identified, individuals can receive counselling on how the disease can be prevented. Proper genetic counselling can help families understand the risks associated with passing the condition to future generations,” he said.

Following the implementation of the mission, large-scale screening programs have been conducted, particularly in high-burden states. These efforts have led to the identification of significant numbers of people with sickle cell trait as well as individuals with homozygous sickle cell disease.

Another key objective of the mission is to provide optimal supportive care to patients. Many patients have been linked to nearby Primary Health Centers (PHCs) and Community Health Centers (CHCs) to ensure access to regular medicines and supportive treatments such as hydroxyurea. Associated genetic counselling has also been initiated as part of these efforts.

To help reduce the number of children born with severe disease, Dr Gaurav urged for further boosting

• awareness of carrier status,
• access to genetic counseling
• wider implementation of screening programs.

What Is Sickle Cell Disease?

Sickle Cell Disease is an inherited blood disorder that affects the shape and function of red blood cells. Instead of being round and flexible, the red blood cells become sickle or crescent-shaped, making it difficult for them to move smoothly through blood vessels.

This can lead to severe anemia, recurrent episodes of pain, infections, organ damage and, in some cases, life-threatening complications such as stroke or acute chest syndrome.

The impact of Sickle Cell Disease extends far beyond physical symptoms, Dr Gaurav said. Children living with the condition often experience repeated hospital visits, missed school days and limitations in daily activities.

Parents frequently face emotional distress, financial strain and the challenge of managing a lifelong medical condition.

Why Early Diagnosis Matters

Dr Gaurav said that one of the biggest challenges is that many children are diagnosed only after symptoms begin to appear. Early screening can help identify affected infants before serious complications develop, allowing doctors to initiate preventive care and monitor the disease more effectively.

Newborn screening programs, regular follow-ups, and access to specialized care can significantly improve the quality of life and reduce the risk of long-term complications, the expert told HealthandMe.