Credits: Canva
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.”
Credit: AI
A new study has found that muscle health may be just as important as body weight in determining a person's risk of developing type 2 diabetes, highlighting the need to look beyond the number on the scale.
The research, led by Curtin University in Australia found that people with both excess body fat and low muscle mass faced a significantly greater risk of developing type 2 diabetes than those who had obesity alone. The findings said that building and preserving muscle mass could become key in diabetes prevention.
The researchers studied data from thousands of adults to examine how body composition shapes type 2 diabetes risk. Participants were grouped based on levels of body fat and muscle mass, allowing scientists to compare how different combinations affected the chances of developing the disease.
Individuals with both high body fat and poor muscle health were more prone to type 2 diabetes compared to people who were obese but maintained healthier muscle mass.
According to the researchers, the findings confirm that muscle tissue plays a vital role in regulating blood sugar because it is one of the body's primary sites for glucose storage and use.
"Most people know carrying excess weight can increase the risk of type 2 diabetes, but our findings show muscle health is also an important piece of the puzzle," said lead researcher Mr. Guan. "People with both excess body fat and low muscle mass had a substantially higher risk of developing type 2 diabetes than those with obesity alone."
He added, "This suggests we need to look beyond the number on the scales when assessing diabetes risk, as maintaining muscle strength and muscle mass may be just as important as managing body weight."
Also read: Wegovy More Likely To Cause Rare Blindness Than Ozempic And Other Similar Drugs, Recent Study Finds
The study also sheds light on sarcopenic obesity, a condition characterized by excess body fat combined with reduced muscle mass or muscle function. Researchers say this condition is often overlooked because many people appear to have only obesity, while declining muscle health remains undetected.
Experts believe the findings indicate that rather than relying solely on body mass index (BMI), experts must assess muscle mass and strength when identifying patients at high risk for diabetes. This can help prevent the disease early.
The research also supports current public health recommendations that say resistance training alongside aerobic exercise is crucial.
Strength training helps preserve and build muscle mass while improving insulin sensitivity, making it an important component of diabetes prevention. Combined with adequate protein intake and healthy weight management, maintaining muscle health may significantly reduce long-term metabolic risk.
Type 2 diabetes is a metabolic disorder in which the body fails to utilize insulin. Frequently associated with obesity, a diet lacking in nutritious foods, and physical inactivity can lead to this diagnosis, It affects hundreds of millions of people worldwide and continues to rise alongside increasing rates of obesity and physical inactivity.
Credit: iStock
In a global first, India's drug regulator has approved a fully synthetic cannabidiol (CBD) therapy for the treatment of mild to moderate anxiety disorders, marking a significant milestone in cannabinoid-based medicine.
The Central Drugs Standard Control Organisation (CDSCO) has granted regulatory approval to Zenara Pharma, the manufacturing partner of Leiutis Pharmaceuticals, to produce a synthetic cannabidiol oral solution (150 mg/ml). The prescription-only therapy is intended to be used alongside cognitive behavioural therapy (CBT) for managing mild to moderate anxiety disorders.
In a statement, Leiutis Pharmaceuticals said the approval follows a successful Phase III clinical trial conducted in India under CDSCO guidelines. A Phase IV post-marketing study will now be carried out to further evaluate the therapy.
Leiutis noted that "this is the first regulatory approval anywhere in the world for a fully synthetic cannabidiol oral solution for anxiety disorders".
K. Chandrasekhar, CEO and Managing Partner of Leiutis Pharmaceuticals LLP, said the approval is the result of nearly a decade of cannabinoid research, including the development of a proprietary synthetic cannabinoid manufacturing process, novel drug-delivery technology, and extensive preclinical and clinical studies.
“Developed entirely in India and protected by patents in key markets, this approval is a significant milestone for our innovation pipeline, paving the way for next-generation cannabinoids. We thank the Government of India, clinical investigators, researchers and study participants who made it possible,” Chandrasekhar said.
The newly approved medicine contains a fully synthetic cannabidiol (CBD) active pharmaceutical ingredient (API), meaning no cannabis plant material is used in its production.
The therapy combines:
Biophore has also filed a United States Drug Master File (US DMF) for the synthetic CBD manufacturing process, reflecting internationally recognized quality standards.
The approval comes at a time when anxiety disorders are rising sharply in India. According to a recent analysis from the Global Burden of Disease Study published in The Lancet, anxiety disorders in India increased by 123.5% between 1990 and 2023.
The prevalence rose from 2,591.9 cases per lakh population in 1990 to 5,792.8 cases per lakh in 2023, driven largely by increasing rates of anxiety and depression.
Cannabidiol (CBD) is one of the naturally occurring compounds found in hemp and cannabis plants. Unlike THC, it does not produce intoxicating effects.
CBD has been studied for several potential therapeutic uses, including:
The newly approved product, however, uses synthetic CBD, which is produced entirely in a laboratory rather than extracted from the cannabis plant. Synthetic CBD offers a highly consistent and contaminant-free formulation, helping standardize dosing and quality.
CBD already has established medical use in certain seizure disorders in some countries and continues to be investigated for a range of other conditions, including anxiety, chronic pain, inflammation and schizophrenia.
CBD is generally well-tolerated, but some users may experience mild side effects like drowsiness, reduced appetite, or diarrhea. Side effects are often due to interactions with other medications.
Credit: iStock
For many women, the last day of treatment feels like crossing a finish line they have been running toward for months. There is relief, there is gratitude, and there is often a quiet sense of disbelief that it is actually behind them. But finishing treatment is not really the end of the journey. It is the start of a new chapter—one we call survivorship—and it deserves just as much care and attention as everything that came before. Understanding what lies ahead can make all the difference between living in fear and living well.
Recovery does not mean walking away from the hospital. In the first few years after treatment, survivors are usually asked to return for follow-ups. The reason behind this is simple: if cancer ever returns, catching it early gives the best chance of treating it successfully. Or in many cases it a good habit to keep a check and boost confidence to the survivors.
What often surprises many women is that the impact of cancer treatment may continue even after active treatment ends. Recovery is a gradual process, and experiences can vary significantly from one individual to another depending on the type of cancer, treatment approach, and overall health. In terms of breast cancer, some women may continue to face physical, emotional, or lifestyle-related challenges during survivorship, while others may require ongoing therapies or follow-up care to reduce the risk of recurrence. What must always be remembered is that these issues cannot be addressed in silence. Open communication between the woman and her treatment team may allow problems to be sorted out in time, with the proper support being provided.
Healing is not only physical. Many survivors carry a constant worry about whether the cancer will come back, while others feel strangely lost once the busy routine of treatment falls away. These emotions are completely natural and nothing to be ashamed of. Speaking to a counsellor, joining a support group, or simply being honest with the care team can lighten the burden enormously.
The choices made every day genuinely shape long-term health. Eating plenty of vegetables, fruits, and whole grains, and staying active with something as simple as a thirty-minute walk most days, makes a real difference. Keeping to a healthy weight is especially important, because carrying excess weight is linked to a higher chance of the cancer returningi. Cutting back on alcohol and staying away from tobacco add further protection.
The body changes after cancer and coming to terms with this takes time. Worries about appearance and intimacy are entirely understandable, and they are worth raising during clinic visits, because often there are practical ways to help.
No one understands a patient's body better than the patient herself, which is why every survivor should feel empowered to ask questions. Before treatment ends, it is wise to request a survivorship care plan. This is a summary of the treatment received, together with a clear schedule for future check-ups. Such a document becomes an invaluable guide, both for the survivor and for any doctor she may see in the years ahead.
Survivorship is rarely a straight line. There will be good days and harder ones, moments of confidence and moments of doubt. With regular check-ups, a few sensible habits, and the support of people who care, life after breast cancer can be every bit as rich and full as before—sometimes even more so. Because in the end, the goal of cancer treatment was never just to help women survive. It was always to help them truly live.
© 2024 Bennett, Coleman & Company Limited