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.”

Even as heatwave conditions continue to intensify across parts of the country, cases of heat-related illnesses are on the rise, leaving many confused between heat stroke and heat exhaustion.

While both are caused by prolonged exposure to high temperatures, their severity, warning signs, and management can differ significantly.

Speaking to HealthandMe, Dr. Naval Vikram, Professor, Department of Medicine, at the AII India Institute of Medical Sciences (AIIMS), explained the key symptoms to watch out for, how to tell the difference between the two conditions, and the simple yet crucial steps individuals can take to protect themselves during extreme heat.

“The general features of a patient with heat stroke are: first, his or her body temperature will be very high. It will not be around normal levels like 104, 105, or 106—it will be significantly elevated. Second, the person may be delirious, confused, or even in a state of unconsciousness or coma. The breathing will also be labored. These are the features of heat stroke,” Dr Vikram said.

On the other hand, a person with heat exhaustion remains conscious, but looks and feels very tired. The individual is also likely to experience

• body ache,
• muscle pain,
• headache,
• muscle cramp,
• body pain or fatigue.

"If this has happened after exposure to heat, it is similar to the feeling one gets after jogging, running, or playing for about half an hour and then feeling exhausted. If that same feeling occurs without doing any such activity, then it is a stage of heat exhaustion, because it is happening due to the heat,” Dr Vikram told HealthandMe.

Who Is More At Risk With Heat-related Problems?

The most vulnerable category for heat-related problems is the extremes of age—the younger children and older adults.

The expert noted that younger children may not be able to express their symptoms completely. They may not be able to tell you exactly what they are feeling.

At the other end, older adults often have multiple health issues—neurological conditions, diabetes, hypertension, and kidney problems.

"So multiple organs may already be affected to some extent. In such situations, if heat-related illness occurs, it becomes difficult to diagnose, especially if they already have neurological problems like confusion or altered behavior," Dr Vikram said.

With existing comorbidities, other organs may already be compromised, so the tipping point towards severity happens very quickly. In contrast, younger individuals generally have greater body reserves.

Therefore, people at the extremes of age are more vulnerable, also because it can sometimes be difficult to recognize and diagnose the condition in them.

How Can One Prevent?

While it may be impossible to avoid rising temperatures, the focus should be on how much you can protect yourself. The expert suggested measures such as:

• Try to avoid exposure to extreme heat as much as possible.

• In case of being exposed, make sure to cover yourself—cover your head and upper body, use an umbrella, stay hydrated, and take breaks in between.

• If you have to work in a hot environment for a couple of hours, take a break in a cooler or temperature-controlled environment for at least half an hour before resuming, rather than continuously working in the heat. These steps can help prevent heat-related problems.

• If symptoms do occur, and it is heat exhaustion, take rest and avoid further activity for some time.

• In more severe cases—if someone shows symptoms like loss of consciousness or very high body temperature—they should be taken to a hospital immediately. Do not try to manage such cases at home.”

Complex pesticides can be now be found in food, water and the surrounding environment and while previous research has noted that they can cause damage to vital organs, a new Nature Health study has revealed that high-exposure to such chemicals can increase a person's risk of certain cancers by over 100 percent.

The researchers analyzed 31 pesticides across Peru and compared the health data from more than 150,000 cancer patients recorded between 2007 and 2020 with areas to discover that people living in regions with higher environmental pesticide exposure were 150 percent more at risk of developing cancer. It remains unclear which kind of cancers they are most prone to.

Stéphane Bertani, a researcher in molecular biology at the French National Research Institute for Sustainable Development (IRD), at the PHARMA-DEV laboratory (IRD/University of Toulouse) said of the results: "This is the first time we have been able to link pesticide exposure, on a national scale, to biological changes suggesting an increased risk of cancer."

The study also highlights how pesticide exposure may affect the body long before cancer is diagnosed. Although tumors can develop in different organs, some share underlying biological weaknesses tied to their cellular origins and vulnerabilities which may be influenced by pesticide exposure.

Previous studies conducted at the Institut Pasteur, led by Pascal Pineau, also show that pesticides can slowly interfere with processes that maintain normal cell function and identity.

Over time, these disruptions accumulate without obvious symptoms and make tissues more susceptible to other harmful influences, including infections, inflammation and environmental stress, paving the way for cancer development.

Pesticides Can Also Increase Risk Of Lung Cancer

The research from the University of Southern California, presented at the annual meeting of the American Association for Cancer Research, found that patients under 50 diagnosed with lung cancer often had better-than-average diets. The experts zeroed in on the culprit, pesticide exposure from conventionally grown produce.

"Our research shows that younger non-smokers who eat a higher quantity of healthy foods than the general population are more likely to develop lung cancer," said lead investigator Jorge Nieva, a medical oncologist and lung cancer specialist with USC.

"These counter-intuitive findings raise important questions about an unknown environmental risk factor for lung cancer related to otherwise beneficial food that needs to be addressed," Nieva added.

Pesticides In Healthy Foods — A Hidden Risk

According to the researchers, the reason may lie in environmental exposure, particularly pesticides used in agriculture. Nieva noted that commercially produced (non-organic) fruits, vegetables, and whole grains are more likely to carry higher levels of pesticide residue compared to dairy, meat, and many processed foods.

He also pointed out that agricultural workers who are regularly exposed to pesticides tend to have higher rates of lung cancer, which supports the possibility of a connection.

The study also found that young women who do not smoke are diagnosed with lung cancer more often than men in the same age group. Women in the study also tended to consume more fruits, vegetables, and whole grains than men.

Kidney stone incidences increase significantly in the summer months; the main reason for this increase is the effect of summer on people's hydration levels. As we get hotter, we sweat a lot, and when we sweat, we lose fluids. If we don't drink enough fluids to replace what we have lost through sweating, our urine will become more concentrated.

Concentrated urine provides a good environment to crystallize minerals, calcium, oxalate, uric acid, and eventually create stones.

In hot weather, it is easy for people to think that they don't need to drink as much water as they really do. The effects of mild dehydration can have a major impact on how many liters of urine a person produces, which is one of the most significant contributors to protecting against developing kidney stones.

When urine production decreases, waste products in the urine become less diluted, so the chances of forming crystals are increased. People who do not exercise much or who don't pay attention to their hydration habits can be at greater risk than others for developing kidney stones.

Poor eating habits in the summertime can add to the problem. Increasing your consumption of salty and processed foods can raise your calcium excretion in the urine, leading to more stones. A high intake of animal protein can increase your uric acid level and decrease your citrate level, a natural inhibitor of stones. Many people will also reduce the amount of fluids and water-rich foods they consume when travelling or working, which further increases the risk of developing stones.

Another factor that isn’t frequently considered is delaying urination. Holding urine for long periods will cause the minerals to settle in the urinary tract and may crystallize, which increases the likelihood of developing stones. Delaying urination in combination with dehydration provides the ideal environment for the formation of stones.

It is important to know and recognize the early symptoms of kidney stones so that you can seek help in a timely manner. Symptoms to watch for are:

• Severe flank pain (back or side),
• burning sensation when urinating,
• nausea and vomiting,
• blood in urine.

Failure to seek treatment for these symptoms can result in complications, such as urinary tract infection or obstruction due to kidney stones.

There are several commonly used methods of preventing kidney stones during the summer months, and they involve very basic lifestyle changes. Consistently drinking enough water so that your urine is clear or light in color is the single most important thing you can do to avoid a kidney stone.

Limiting your intake of additional salt and moderating your animal protein consumption will help as well. Including citrus fruits (lemons and oranges) in your diet may also prevent kidney stones, because they contain citrates, which help to inhibit the formation of kidney stones.

By using proper hydration, good nutrition, and an awareness of the early warning signs of kidney stones, your kidney stone risk will be considerably lowered throughout the summer months.