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.”

Heart attacks are often associated with severe chest pain, but health experts warned that many cases present with unusual symptoms such as jaw pain and nausea that are frequently ignored or mistaken for less serious conditions.

Ischemic Heart Disease (IHD) or heart attacks is the leading cause of death worldwide, responsible for roughly 9 million deaths annually

Speaking to HealthandMe, the experts highlighted unusual symptoms that may indicate a heart attack — particularly in women, elderly people, and individuals with diabetes. These include:

• Jaw pain
• Nausea
• Sweating
• Dizziness
• Unusual fatigue
• Breathlessness
• Discomfort in the neck, back, or arms

Ignoring Symptoms Can Worsen Outcomes

Dr. Prasanthi Ganji, HOD - Emergency Medicine at Manipal Hospital, Gurugram, called these “referred symptoms”, where pain from the heart travels through shared nerve pathways and is felt in other parts of the body, including the jaw, neck, shoulders, or back.

The expert explained that nausea may occur because reduced blood flow and stress on the heart can affect the nervous system and digestive response.

Also read: Can Extreme Heat Trigger Heart Palpitations? Expert Explains Risks

According to her, many patients mistake these symptoms for acidity, fatigue, or muscle strain, leading to dangerous delays in treatment.

“Recognizing these warning signs during the critical golden hour can significantly improve survival and reduce long-term heart damage,” Dr. Prasanthi told HealthandMe, adding that symptoms lasting more than a few minutes should never be ignored.

Heart Attack: Silent Symptoms Often Overlooked

Dr. Saifa M. Latheef, Associate Professor and Clinical Head – Emergency Medicine at ShardaCare-Healthcity, said public awareness about silent or unusual heart attack symptoms remains low.

“Many people believe that a heart attack always causes severe chest pain. However, this is not true in every case,” she said.

Dr. Saifa noted that some patients may experience heaviness in the jaw, vomiting sensation, breathlessness, or extreme weakness without chest pain, causing them to delay emergency care.

“A heart attack occurs when blood flow to the heart suddenly gets blocked, making immediate medical attention crucial to save heart muscle and prevent complications,” the doctor told HealthandMe.

Doctors Warn Against Delaying Treatment

The health experts also flagged the delaying attitude of patients, which increases the risk of poorer outcomes.

Dr. Nitin Jagasia, Regional Director Emergency, Western Region, Apollo Hospitals, said the biggest mistake patients make is waiting too long before seeking help.

“As an emergency doctor, I meet patients every day who say, ‘Doctor, I thought it would go away,’” he told HealthandMe.

Dr. Jagasia warned that heart attacks do not always begin with crushing chest pain and that unusual symptoms like nausea, sweating, stomach discomfort, or unexplained fatigue are often mistaken for acidity or stress.

“A simple rule to remember is this: if a symptom is sudden, severe, or frightening, do not wait for it to pass,” he said.

Read More: Early Exposure To Lead And Lithium Can Cause A Lifetime Of Mental Exhaustion

How To Prevent

The experts emphasized that timely treatment, CPR awareness, and rapid emergency response remain the strongest defences against sudden cardiac emergencies.

They also highlighted the importance of preventive measures such as regular exercise, healthy eating, stress management, quitting smoking, and controlling diabetes and blood pressure.

Obesity is a very significant modifiable risk factor for brain stroke, which is an extremely dangerous illness caused by an insufficient or lack of blood supply to the brain. Stroke leads to disability, memory impairment, paralysis, and sometimes death. As obesity is related to many illnesses, regulation of weight can considerably decrease the probability of suffering a brain stroke.

Dr Bhupesh Kumar Mansukhani, Director of Neurology at Neuromet Wellness Care & Diagnostics, in an interview with Health and Me, said, "Obesity is an excessive accumulation of fat in the body, which causes damage to health. Obesity is determined using the BMI index. Those who suffer from obesity are more prone to illnesses like hypertension, diabetes, and elevated cholesterol levels, all of which put people at a higher risk of suffering a brain stroke. Excessive fat, particularly abdominal fat, affects the arteries, leading to their constriction."

Can hypertension trigger a stroke?

Hypertension, or high blood pressure, is yet another major connection between obesity and stroke. Obesity causes stress on the cardiovascular system and elevates blood pressure levels. Such a state poses a risk of injury to the blood vessels in the brain, causing their rupture or blockage. Obesity usually results in diabetes, and both conditions harm the walls of the blood vessels and increase the risk of blood clot formation. Besides, the increased concentration of cholesterol contributes to plaque accumulation in the arteries.

The presence of obesity in the body stimulates inflammatory reactions and reduces the rate of circulation, which may cause the formation of blood clots. As a result, these clots are delivered to the brain and prevent blood from delivering oxygen to it, and ischaemia becomes the trigger for an ischaemic stroke, which is the leading type of stroke.

Is obesity a modifiable risk factor?

The advantage here is that obesity is a modifiable risk factor, which can actually be avoided or managed. Proper nutrition, physical exercise, adequate sleep, and the absence of negative behaviours will enable an individual to maintain a healthy body weight. It is also important to take part in preventive measures, such as having regular medical examinations and testing one’s blood pressure, glucose levels, and cholesterol.

To conclude, it can be noted that obesity contributes significantly to increased risks of developing a brain stroke due to many reasons, including hypertension, diabetes mellitus, and vascular diseases. Being a modifiable risk factor, it can be easily avoided.

Cancer is, without a doubt, one of the most feared diseases known to man. According to the Indian Council of Medical Research - National Cancer Registry Programme (ICMR-NCRP), India gets 1.5 million new cases of the disease every year, with one in nine people likely to develop cancer in their lifetime. On the other hand, the American Cancer Society (ACS) and National Cancer Institute (NCI) expect about 2,114,850 new cases in the United States this year alone.

A new study claims that the weight loss drug, glucagon-like peptide-1 (GLP-1), may help slow the spread of some cancers. The research was done by the Cleveland Clinic and claimed that the medications may slow down the spread of several obesity-related cancers, including lung, breast, colorectal, and liver cancers.

The official press release by the Cleveland Clinic mentions their research being included 12,112 patients with the following types of obesity-related cancers, ranging from stage 1 to stage 3, and half of these participants started a GLP-1 medication after their cancer diagnosis. The others were taking a DPP-4 inhibitor comparator, "gliptins," a different class of diabetes medications.

The comparison between the two groups clearly shows that the patients who took GLP-1 have a much lower progression to stage 4 disease for four types of cancers.

The study author, Mark David Orland, MD, of the Taussig Cancer Institute at Cleveland Clinic, said, "Our study found that use of GLP-1 drugs, compared to DPP-4 inhibitors and other antidiabetic drugs, was associated with a meaningful reduction in cancer progression across four solid tumor types."

How To Reduce The Risk Of Cancer?

• Consuming a healthy and balanced diet rich in fruits, vegetables, whole grains, and lean proteins can reduce cancer risk.
• Regular physical activity keeps the body fit and reduces the risk of breast, colon, and endometrial cancers.
• Smoking and alcohol consumption should be avoided.
• Skin cancer is one of the most preventable types of cancer. Applying sunscreen with high SPF, finding shade, and avoiding tanning beds would save you from harmful ultraviolet rays.
• Long-term stress can weaken the immune system and may contribute to an increased risk of cancer. Incorporating stress-relief techniques such as mindfulness, practising deep-breathing exercises, and engaging in enjoyable hobbies can enhance overall well-being.
• Exposure to environmental elements like pesticides, pollutants, and workplace chemicals can increase the risk of cancer. To avoid this risk, wearing protective gear, opting for organic produce, and ensuring adequate ventilation in living or working areas can greatly assist.
• By vaccinating against Hepatitis B and HPV, individuals can protect themselves against infections closely linked to liver and cervical cancers; apart from vaccination, adopting proper hygiene practices and steering clear of high-risk activities can help prevent the risk of cancer-causing infections.