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.”

A recent research published in the Nature Medicine journal reveals that a new drug can help people on obesity shots to avoid unwanted muscle loss linked to flat bums or "Ozempic butt". The US research suggests that about a third of the weight loss from GLP-1 obesity jabs like Wegovy and Mounjaro can come from muscle rather than fat. The medication is apitegromab.

The trial with 102 adults, mostly women, who took apitegromab with their obesity medication, maintained more muscle while still losing fat, body scans showed.

But How Does Ozempic Function?

The first thing to remember here is that Ozempic is a brand-name medicine that contains semaglutide as its active ingredient. Semglutide is the synthetic version of GLP-1, a natural hormone produced in the intestines that regulates blood sugar, appetite, and digestion. Now, every time you eat, your body produces various hormones, including GLP-1. These are called post-nutrition hormones, and they help you absorb the energy you just consumed.

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GLP-1 travels to your pancreas, prompting it to produce insulin. It also travels to the hypothalamus in your brain, which gives you the feeling of being full or satiated. Ozempic imitates this hormone, thereby silencing the food chatter in the brain. Interestingly, for some people, this food chatter is really quiet ( people with low appetite), and for others it is an outburst (people who generally binge eat). So with Ozempic, silencing this self-talk in the brain, people tend to lose their appetite and eventually weight.

However, it is important to note that losing weight includes not just fat but muscle as well. Losing too much muscle can lead to reduced strength and a shorter life span. Notably, records show that most people who start taking them stop them at 12 weeks; therefore, it is important for some but not for others.

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What Are The Side Effects?

Ozempic is a drug that is tasked to help diabetic patients manage their blood sugar levels and weight. However, recent research has shown its effectiveness in mitigating various addictions like alcohol and drugs by inhibiting hormones. But what people ignore are its side effects, which include:

• Nausea is a frequent side effect, especially when starting Ozempic or increasing the dose, and vomiting may occur along with nausea.
• Diarrhoea and abdominal discomfort also show up in people using Ozempic, but they generally resolve as your body adjusts.
• Ozempic can reduce appetite but may also lead to unintended weight loss or reduced food intake, causing discomfort for some people.
• There are certain less common, but serious side effects, like Pancreatitis, or inflammation of the pancreas.
• This drug may also cause severe kidney issues, particularly if dehydration occurs from side effects like vomiting or diarrhoea.

Although brain tumours are more commonly associated with older adults, they can occur at any age, including during adolescence and young adulthood. Recognising the warning signs early can help ensure timely diagnosis and treatment. Here, an expert explains the symptoms and highlights when medical attention should be sought.

What is a brain tumour?

In an interview with Health and Me, Dr Rakesh Patil, Consultant Medical Oncologist, AIMS Hospital, Dombivli, spoke about brain tumours and their rising incidence among younger Indians.

Brain tumours occur when abnormal cells grow uncontrollably within the brain or surrounding tissues. These tumours may be benign (non-cancerous) or malignant (cancerous). While brain tumours are not among the most common cancers affecting young adults, cases do occur in this age group. The exact cause of most brain tumours remains unknown. However, certain genetic conditions, a family history of brain tumours, previous exposure to radiation therapy, and rare inherited disorders may increase the risk. In many cases, affected individuals have no identifiable risk factors. Early diagnosis and appropriate treatment remain crucial for achieving the best possible outcomes.

Why are brain tumour symptoms missed?

One of the major challenges is that the early symptoms of a brain tumour can be mistaken for stress, migraines, sleep deprivation, or eye strain. Persistent headaches, especially those that worsen over time; nausea; vomiting; blurred or double vision; balance problems; unexplained seizures; weakness in an arm or leg; personality changes; memory difficulties; and problems with speech or concentration should not be ignored and warrant prompt medical evaluation.

Why are brain tumour cases rising among young Indians?

Many young adults are occupied with studies, careers, and social commitments, which may lead them to overlook symptoms or delay seeking medical attention. If left untreated, a brain tumour can affect important brain functions, including movement, speech, vision, memory, and behaviour. In some cases, it can become life-threatening.

What are the best treatment options for brain tumour?

Advances in imaging technology, neurosurgery, radiation therapy, and targeted treatments have significantly improved outcomes for many patients. Following a thorough evaluation and diagnosis, the treating physician will determine the most appropriate treatment plan based on the type, size, and location of the tumour. Some patients may also benefit from neurorehabilitation as part of their recovery.

Young adults should seek medical evaluation if they experience persistent headaches, develop neurological symptoms, or have seizures without an obvious cause. Greater awareness and timely medical attention can help improve outcomes and, in some cases, save lives.

Air pollution is one of the most impactful issues for the people of Delhi, as the city is known for having heavy air pollution, and the whole NCR faces this particular health hazard due to very high PM2.5 concentrations.

Though until now there was a public perception that the effect of this situation on babies was not massive, but that hopeful thinking has been shattered by a new study done by the All India Institute of Medical Sciences (AIIMS), Delhi.

The study by AIIMS has revealed that when fine particulate matter is found in the air, it can damage the placenta, restrict fetal growth, and increase the risk of low birth weight.

It was published in EMBO Molecular Medicine and focused on the effect of fine particulate matter in the air on pregnancy through laboratory study, animal models, and human data.

The research team observed that the presence of fine particulate matter in the air causes harm to placental function, including blood vessel formation, nutrient transport, and fetal growth.

In animal trials, the team has observed that the rats exposed to pollution have smaller litters, abnormal placentas, and babies with reduced birth weight and growth.

The research was supported by an analysis of 994 pregnancies from regions with different pollution levels. The team of AIIMS also stated that they have seen PM2.5 exposure was associated with a greater risk of low birth weight and preeclampsia.

How To Reduce Climate-related Health Risks

To reduce climate-related health risks, the experts recommend staying informed about weather conditions, remaining hydrated, limiting outdoor exposure during extreme heat, and taking precautions against mosquito bites.

People with chronic conditions such as hypertension, diabetes, heart disease, and kidney disease are advised to maintain adequate medication supplies and consult healthcare providers during periods of extreme heat.

Also Read: Meningitis Alert at UK University: Preventive Antibiotics and Vaccination Offered to Students

According to the experts, awareness and early action remain critical to protecting public health as climate change continues to reshape disease patterns around the world.

To reduce the risk of mosquito-borne diseases, people should make sure that water does not get collected in buckets, coolers, flower pots, or other containers around the home. Additional precautions include the use of mosquito repellents, sleeping under nets when necessary, and wearing clothing that covers the arms and legs.

Dr Sabine said food and water safety are particularly important after heavy rain or flooding. Proper food storage, clean drinking water, and good hygiene practices can go a long way in preventing many infections. Those with pre-existing medical conditions should also have essential medicines within easy reach during extreme weather.