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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
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Vitiligo is an autoimmune condition that causes pigment loss in patches of skin. It is highly treatable and does not spread from person to person. However, stress, poor sleep, diet, and overall immune health may influence how active the condition becomes, experts said today on World Vitiligo Day.
Awareness around vitiligo remains low and is often clouded by misconceptions. Observed annually on June 25, World Vitiligo Day aims to raise awareness and challenge the stigma associated with the condition.
HealthandMe spoke to experts to understand the disease and the factors that may affect it.
Dr. Rashmi Ranjan, Consultant – Dermatology, Yatharth Super Speciality Hospital, Noida, said the biggest misconception is that vitiligo is contagious.
"It cannot spread from one person to another through touch, sharing food, or close contact."
Dr. Rashmi told HealthandMe that many people also incorrectly believe vitiligo is caused by poor hygiene or specific foods, claims that are not supported by scientific evidence.
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Vitiligo occurs when the body's immune system attacks melanocytes, the cells responsible for producing skin pigment. While the condition is not life-threatening, it can have a significant emotional and psychological impact.
“As a chronic autoimmune disorder, vitiligo develops when the body's immune system mistakenly attacks melanocytes—the cells responsible for producing skin pigment. The result is the appearance of white patches that can develop anywhere on the body and may gradually increase in size or number over time,” Dr Hetanshu Parekh, Consultant Plastic Reconstructive & Cosmetic Surgeon, Bhailal Amin General Hospital, told HealthandMe.
The theme of World Vitiligo Day 2026 is "From Stigma to Strength".
According to Dr. Rashmi, visible skin changes often attract unwanted attention, questions and social judgment. Some people may avoid social gatherings or experience challenges in relationships and employment because of persistent misconceptions.
Children may face bullying, while adults can struggle with anxiety and low self-esteem. Emotional support from family, friends and healthcare professionals is therefore crucial.
A recent study also highlighted a strong link between vitiligo and mental health in India. Nearly 89% of patients reported moderate to severe depression, while close to 60% said they covered their patches, underscoring the continuing impact of stigma.
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Dr Hetanshu said vitiligo is often viewed as a skin condition alone, but the disease is far more complex. He explained that
Advances in targeted topical medications, phototherapy and immune-modulating therapies have expanded treatment options and enabled more personalized care, said Dr. Rashmi told HealthandMe.
Dr Hetanshu stressed that lifestyle measures should complement, not replace, medical treatment. Treatment measures include:
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Blood cancers are among the most challenging, but advances in treatments, such as targeted therapies, advanced transplantation techniques, and increasingly customized approaches, are offering a new ray of hope for patients. Among these innovations, Chimeric Antigen Receptor T-cell therapy, commonly known as CAR-T cell therapy, represents one of the most important breakthroughs in modern cancer care in recent times.
Unlike conventional treatments that directly target cancer cells, CAR-T cell therapy harnesses the patient's immune system to identify and attack cancer. It is a powerful example of how medicine is moving towards personalized treatment strategies that are designed around an individual's disease biology.
To understand CAR-T therapy, it is important to understand the role of T-cells. These are specialized immune cells responsible for recognizing and eliminating abnormal cells in the body. In some blood cancers, cancer cells develop mechanisms that allow them to evade immune surveillance. CAR-T therapy addresses this challenge by genetically modifying a patient's T-cells in a laboratory to recognize specific proteins present on cancer cells.
The process begins with the collection of T-cells from the patient's blood through leukapheresis. These cells are then engineered to express specialized receptors, called chimeric antigen receptors (CARs), which enable them to recognize cancer cells more effectively. Once modified and multiplied, the cells are infused back into the patient's bloodstream, where they seek out and destroy cancer cells.
Currently, CAR-T cell therapy has shown encouraging results in several blood cancers, including certain forms of acute lymphoblastic leukemia, diffuse large B-cell lymphoma (DLBCL), mantle cell lymphoma, follicular lymphoma, and multiple myeloma. For some patients whose disease has relapsed after multiple lines of treatment or failed to respond to conventional therapies, CAR-T therapy has offered a valuable new treatment option.
One of the most promising aspects of CAR-T therapy is its potential for durable responses. In selected patients, the engineered immune cells can continue to remain active within the body, providing ongoing surveillance against cancer recurrence. While every patient may not experience the same outcome, the ability to achieve long-lasting remission in heavily pre-treated cancers has generated significant optimism within the oncology community.
All that being said, CAR-T therapy is a highly specialized treatment that requires careful patient selection and close monitoring. Some patients may also experience side effects such as cytokine release syndrome (CRS), neurological complications, or temporary suppression of normal blood cell production. Fortunately, advances in supportive care and growing clinical experience have substantially improved the management of these complications.
Researchers across the world are working on next-generation CAR-T platforms designed to improve effectiveness, reduce toxicity and expand treatment eligibility. Investigational approaches include "off-the-shelf" CAR-T products derived from healthy donors, dual-target CAR-T cells capable of recognizing multiple cancer markers, and therapies aimed at overcoming treatment resistance.
Scientists have also been exploring the potential of CAR-T therapy in other blood cancers and even selected solid tumors. While significant challenges remain, ongoing research continues to push the boundaries of what immune-based therapies can achieve. As research advances and access continues to improve, CAR-T cell therapy is expected to play a very important role in the future of blood cancer care. For patients, families, and clinicians alike, it represents a powerful reminder that innovation continues to redefine what is possible in the fight against cancer.
(By Dr. Dinesh Bhurani, Director – Hemato-Oncology & Bone Marrow Transplant, Rajiv Gandhi Cancer Institute & Research Centre (RGCIRC))
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Keeping your cholesterol levels in a healthy range is one of the best things you can do for your heart. High cholesterol is a major risk factor for heart disease, but the good news is that what you eat can make a significant difference. While some people may need medication, research shows that certain foods can naturally help lower LDL cholesterol and support overall cardiovascular health.
One of the easiest places to start is with oats. Oats are packed with a soluble fiber called beta-glucan, which helps reduce the amount of cholesterol absorbed into your bloodstream. A review published in Nutrients found that regularly eating oat beta-glucan can lead to meaningful reductions in LDL cholesterol, especially when combined with an overall heart-healthy diet.
Legumes such as beans, lentils, and chickpeas are another powerful addition to your plate. They're rich in fiber and plant-based protein, making them an excellent alternative to processed meats and other foods high in saturated fat. Research has consistently linked regular legume consumption with lower LDL cholesterol levels and better heart health.
Nuts also deserve a place in a cholesterol-friendly diet. Almonds, walnuts, and other tree nuts provide healthy unsaturated fats, fiber, and antioxidants. According to studies published in the American Journal of Clinical Nutrition, moderate nut consumption can help improve cholesterol levels and support cardiovascular health.
Fatty fish like salmon, sardines, and mackerel are well known for their heart-protective benefits. These fish are rich in omega-3 fatty acids, which can help lower triglycerides and support healthy blood vessels. The American Heart Association recommends eating fatty fish at least twice a week as part of a balanced diet.
Fruits and vegetables remain some of the most important foods for maintaining healthy cholesterol levels. Apples, berries, oranges, leafy greens, and broccoli provide fiber, vitamins, antioxidants, and plant compounds that help protect the heart. Numerous studies have shown that diets rich in fruits and vegetables are associated with a lower risk of cardiovascular disease.
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Avocados are another heart-smart choice. They contain monounsaturated fats and fiber, both of which can help improve cholesterol levels when used in place of foods high in saturated fat. A clinical study published in the Journal of the American Heart Association found that people who ate one avocado daily experienced greater reductions in LDL cholesterol than those following similar diets without avocado.
The bottom line is that controlling cholesterol doesn't require a drastic diet overhaul. Small, consistent changes—such as eating more whole grains, legumes, nuts, fruits, vegetables, fatty fish, and healthy fats—can have a lasting impact on heart health. Combined with regular exercise and other healthy lifestyle habits, these foods can help keep your cholesterol in check and support long-term well-being.
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