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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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Fasting for three hours before bed can significantly improve heart health and reduce the risk of coronary artery disease (CAD) as well as other chronic conditions, an Arteriosclerosis, Thrombosis, and Vascular Biology study suggests.
While many believe that diet plans such as intermittent fasting or time-restricted eating can help reduce their weight, researchers at Northwestern University have found that not eating three hours before going to sleep can reduce overnight blood pressure by nearly four percent, heart rate by five percent and strengthen overall heart rhythms.
This can help reduce overall strain on the heart which lowers risks for conditions like hypertension and CAD. Additionally, the scientists also discovered a drop in blood sugar levels, improved glucose tolerance and insulin sensitivity.
Participants who underwent glucose tests also showed better insulin release which tend to stabilize during the day. Additionally, an improved heart rate also lowered nighttime cortisol, which helped in metabolic balance.
Dr. Phyllis Zee, director of the Center for Circadian and Sleep Medicine and chief of sleep medicine in the department of neurology at Feinberg and corresponding author said of the results: "It's not only how much and what you eat, but also when you eat relative to sleep that is important for the physiological benefits of time-restricted eating."
The study authors also noted: "Extending overnight fasting duration by three hours in alignment with sleep improved cardiometabolic health in middle-aged/older adults by strengthening coordination between circadian- and sleep-regulated autonomic and metabolic activity.
"This sleep-aligned time-restricted eating approach represents a novel, accessible lifestyle intervention with promising potential for improving cardiometabolic function."
Despite being as a common heart disease, coronary artery disease (CAD) develops over years and has no clear signs and symptoms apart from a heart attack. The illness begins due to a buildup of fats, cholesterol and other substances known as plaque in and on the artery walls.
Over time, this can cause narrowing or blockage of the coronary arteries and block the supply of oxygen-rich blood to heart which can lead chest pain (angina), shortness of breath and ultimately, heart attacks.
Typically, those above the age of 45, having a biological family member with heart disease, lack of sleep, smoking, consuming saturated fats along with other autoimmune diseases such as lupus and rheumatoid arthritis can increase the risk of developing CAD.
Treatment options may include medicines and surgery. Eating a nutritious diet, getting regular exercise and not smoking can help also prevent CAD and the conditions that can cause it.
Nearly one in 10 Indian adults suffer from CAD and about two million people die from the disease annually. Apart from this, about 18 to 20 million American adults aged 20 and older are also affected about the disease.
One in seven stroke patients in India are young adults aged below 45 years, with hypertension leading as the major risk factor, according to a study by the Indian Council of Medical Research (ICMR).
The Global Burden of Disease Study 2021 identified hypertension, air pollution, tobacco smoking, high cholesterol, increased salt intake, and diabetes as the leading risk factors of stroke.
Incidence of stroke is increasing significantly in low- and middle-income countries (LMICs), especially in India, due to population growth, aging, and greater exposure to risk factors.
Quitting smoking is one of the most important steps a person can take to improve their health. But research suggests that women face unique challenges that make it harder to stop smoking and remain nicotine-free as compared with men.
According to the Centers for Disease Control and Prevention, about 10 percent of women in the US currently smoke cigarettes. Each year, while many attempt to quit, maintaining long term abstinence remains difficult for a large number of smokers.
Scientists say these differences are not about motivation and women are usually just as willing to quit smoking as men. In many cases they are even more likely to seek help through smoking cessation programs, counseling or medical treatment.
However, the challenge lies in a combination of biological, psychological and social factors that can make nicotine addiction behave differently in women.
One of the biggest reasons for the difference is biological as women process nicotine differently than men.
Research shows that women tend to metabolize nicotine faster. This means nicotine leaves the body more quickly, which can lead to stronger withdrawal symptoms and more frequent cravings. Jean Perriot, MD, an addiction specialist at the Émile Roux Dispensary in France, says this biological difference can affect treatment.
Even though doctors sometimes worry about giving women too much nicotine replacement therapy, such as patches or gum, biological measurements often show that many women actually receive too little nicotine replacement, which can make treatment less effective.
Hormones also play a role in smoking behavior. Studies suggest that cravings may increase when estrogen levels are high and decrease when progesterone levels rise. These hormonal shifts occur naturally during the menstrual cycle and may influence when quitting attempts are most successful.
Dr Nancy Rigotti, director of the Tobacco Research and Treatment Center at Massachusetts General Hospital who specializes in smoking cessation for many years notes that emotional triggers such as stress or depression can strongly influence smoking behavior among women.
Social and economic pressures may also increase vulnerability to tobacco use. Historically, the tobacco industry has targeted women with marketing campaigns that connect smoking with weight control, independence or attractiveness. Public health experts say these messages can shape attitudes about smoking and reinforce addictive behaviors.
Behavioral research suggests these cues may have a stronger influence for some women, which can make quitting harder even when nicotine dependence is treated.
Furthermore, nicotine can suppress appetite, leading may to pick up smoking to manage body weight. Studies show that women are more likely than men to experience increased cravings for high sugar or high fat foods after quitting smoking. They also tend to gain slightly more weight on average which can make some women hesitant to quit or more likely to relapse.
Research suggests nicotine replacement therapy may need to be carefully adjusted because of faster nicotine metabolism in women. Some medications used to help people quit smoking may also have different effects.
For example, studies suggest the medication varenicline may cause more side effects in women, while the drug bupropion may be somewhat less effective for female smokers.
On the other hand, behavioral treatments appear to work well for many women. Cognitive behavioral therapy, which helps people understand and change unhealthy habits, may be slightly more effective for women than men. Women are also more likely to try complementary approaches such as meditation, yoga or hypnosis when attempting to quit smoking.
Exposure to secondhand smoke is another concern. Studies show women are often more likely to be exposed to tobacco smoke at home or in shared environments. Some research also suggests women may face higher risks of certain tobacco related diseases even at lower levels of smoking.
Understanding these differences can help doctors design better quitting strategies. Scientists say the goal is not simply to encourage people to quit smoking, but to provide the right tools so that quitting becomes more achievable for everyone.
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Often called the stress hormone, cortisol is produced by your adrenal glands, located on top of the kidneys. The hormone plays a critical role in keeping you healthy and maintaining your energy as well cardiovascular health.
Cortisol is a necessary tool for survival and naturally peaks in the morning to help you wake up and drop at night to help you sleep. While the body has a system in place to maintain hormone levels, issues arise when cortisol levels stay chronically high, meaning your body is constantly in "fight-or-flight" mode.
This can happen due to long-term stress, certain medical conditions (like Cushing’s Syndrome), or the prolonged use of steroid medications.
However, Dr Suman Agrawal, a renowned Oxford University certified nutritionist and qualified fitness expert has shared how "Shin-Kokyu”, a technique used by Japanese samurais before a battle exercise can help reduce cortisol by 80 percent
Step One: Box breathing method:
Place three fingers below the navel with medium force & hold throughout the breathing. There’s a cluster of vagus nerve endings there. It’s like a button in the body.
Step Three: Gaze into nowhere
Look straight ahead and defocus your gaze as if you are looking through a wall for three minutes. This time span is equal to 12 breathing cycles which is the minimum time needed to reboot the nervous system.
If high cortisol levels are left un-addressed for an extended period, they can lead to serious health complications, including:
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