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.”

There are many components of weather that are reported to affect migraine, such as barometric pressure, humidity, temperature, and seasons. A drop in pressure (often before a storm) can create a pressure imbalance between the environment and the sinuses/inner ear, stimulating nerves and causing headaches.

Rapid shifts in temperature or intense cold/heat can trigger migraine attacks. Both high humidity and very dry air can trigger migraine symptoms. Bright Sunlight or Intense sun exposure, especially reflecting off snow or water, is a significant trigger for migraine.

Weather Changes: Brain Imbalances

Weather changes can cause chemical imbalances in the brain, specifically affecting serotonin levels, which are involved in migraine development. They can also cause inflammation or a "pressure difference" in the sinuses.

Both spring/summer (due to heat and allergens) and winter (due to cold/dry air) can trigger migraines and sinus problems. While many studies report weather as a trigger, some studies suggest that our perception of the trigger can exceed the actual statistical impact.

Often, it is a combination of factors, such as allergies in the spring or the flu in autumn, that triggers the headache, rather than just the air pressure.

Maintaining a migraine diary for at least 90 days helps identify specific weather patterns that trigger your attacks.

Seasonal Allergies And Sinus

Seasonal allergies do not cause migraine attacks, but migraine is commonly misdiagnosed as a sinus headache, because some symptoms can overlap. It is common for migraine to be associated with forehead and facial pressure over the sinuses, as well as a blocked or runny nose.

However, sinus issues may be accompanied by a fever rather than a migraine. Migraines can cause activation of the nerves in the face (referred to as cranial autonomic activation), which can lead to the blocked, congested feeling.

How To Stay Safe

If weather changes are a trigger for you, this can be difficult to avoid, and beyond your control, but it can be useful to keep an eye on the weather forecast. A preventive treatment may be needed to reduce the overall sensitivity to such changes, allowing you more freedom to plan your daily activities. When you think the weather might increase the risk, it is useful to treat early to shorten and completely stop the migraine attack.

Attacks that are treated early will have fewer debilitating symptoms by not becoming fully developed and severe. Drink enough water to make up for extra fluid loss on warmer days and during physical activities.

Consider taking water with you when out to remain well hydrated and to compensate for excessive sweating. Consider staying indoors during the peak hours of brightness if that is an option.

If going out, be prepared by wearing protective sunglasses or a hat to minimize glare and light. Use a humidifier to maintain indoor humidity between 40-50% to prevent nasal passages from drying out, especially in winter.

Psilocybin is the active ingredient found in magic mushrooms, and a new study shows that just one high dose (25 mg) is enough to cause alterations in the brain’s structures and help improve mental health.

The changes could explain why some people report psychological benefits from the experience, revealed the study published in the journal Nature Communications. The study found that the effect may last for up to a month after the experience.

In the study, researchers from the University of California, San Francisco, and Imperial College London argue that the effect may lead to “subsequent improvements in mental health”.

"Psychedelic means 'psyche-revealing,' or making the psyche visible," said senior author Robin Carhart-Harris, Professor of Neurology at UCSF.

"Our data shows that such experiences of psychological insight relate to an entropic quality of brain activity and how both are involved in causing subsequent improvements in mental health. It suggests that the trip—and its correlates in the brain—is a key component of how psychedelic therapy works," Carhart-Harris added.

How A Psychedelic Trip Improved Brain Health

Psilocybin has been the subject of several studies in people that have found it appears to alleviate symptoms of depression and anxiety. It has also shown promise in addiction medicine.

In the latest study on 28 people, none had a diagnosed mental health condition. The team gave the participants a 1 mg dose of psilocybin, which the researchers regarded as a placebo, and then monitored them with electroencephalography (EEG), which records brain activity from electrodes on the scalp.

One month after the placebo, the subjects were given 25 mg of psilocybin, a dose capable of eliciting a strong psychedelic trip.

After each experiment, the researchers measured the participants’ psychological insight, well-being, and cognitive ability. They also examined brain activity with functional MRI (fMRI) and brain connectivity with diffusion tensor imaging (DTI).

The results showed that within 60 minutes of taking the 25 mg dose of psilocybin, the EEG revealed higher entropy — which means that the brain was processing a richer body of information under the psychedelic.

A month later, the researchers looked at their subjects' brains with DTI, which measures the diffusion of water along neural tracts in the brain, and found that they were denser and had more integrity. This is the opposite of what happens in aging, which makes these tracts more diffuse.

Also Read: Ibogaine: Why Donald Trump Is Pushing US FDA To Fast-track This Psychedelic

While the result is a never-before-seen sign of how psychedelics can change the brain, the researchers cautioned that more work needs to be done to better understand the meaning of this change.

The participants noted that they had experienced more psychological insight after taking the 25 mg of psilocybin than they had after the 1 mg placebo, and noted "feeling optimistic about the future".

A month after the study, they also did better on a test of cognitive flexibility.

"Psilocybin seems to loosen up stereotyped patterns of brain activity and give people the ability to revise entrenched patterns of thought," said Taylor Lyons, a research associate at Imperial College London and the first author of the paper. "The fact that these changes track with insight and improved well-being is especially exciting."

The findings could improve treatment for people with mental illness with psilocybin, for example, by ensuring that the right dosage is used to produce the right amount of brain entropy to promote insight.

Every year on May 5, World Asthma Day is observed, an event that aims at spreading awareness about the respiratory disorders. While asthma is becoming a common occurrence in India, citing excessive pollution and unhealthy lifestyle choices. But in a shocking revelation on the occasion, Dr. Gitika Sanodia, Consultant Dermatologist at Dr L H Hiranandani Hospital, Powai, revealed that leaving eczema untreated could lead to chronic asthma. Talking about it, Dr Sanodia answered some common FAQs about eczema and asthma.

Can untreated eczema cause asthma?

Yes, especially for those suffering from early childhood onset of moderate/severe atopic dermatitis. Eczema is not always limited to being solely a skin condition. In many cases, patients who suffer from eczema actually have one part of the atopic triad, which means the patient's skin barrier is dysfunctional, allowing for allergens to enter and sensitize the immune system. With time, the same tendency can impact other organs, causing allergic rhinitis or asthma. However, it must be noted that not all children with eczema develop asthma.

Why does everybody treat eczema as merely a skin problem?

Because of symptoms including itching, dryness, redness, scaling, and oozing from the skin. The families take care to control the acute phase of eczema while ignoring the patient's predisposition to allergies. Furthermore, atopic dermatitis is an inflammatory skin condition that is accompanied by impaired skin barrier function, immune dysfunction, and environmental factors. Moreover, according to DermNet, atopy is a term used for conditions where eczema, rhinitis, and asthma happen together.

Early signs for which parents and adults should be vigilant

Parents should worry if their children with eczema exhibit recurrent coughs, wheezing, noisy breathing, difficulties breathing during playtime, nighttime coughing, chest tightness, frequent sneezing, nasal blockage, allergic rhinitis, or exacerbation of symptoms following exposure to dust, animal dander, pollens, airborne particles, or fluctuating environmental conditions.

Is eczema therapy sufficient to prevent the development of asthma?

Successful treatment of eczema can help minimize the chances of allergens penetrating the skin barrier and allergic inflammation. Nonetheless, it would not be accurate to predict with certainty that eczema therapy will effectively prevent the onset of asthma. Literature recommends the prompt restoration of the skin barrier function, regular application of moisturizing agents, avoiding triggers such as fragrances and harsh soaps, managing flare-ups with prescription corticosteroid creams, controlling infections, and referring patients with severe eczema cases.

Is it a significant public health concern?

Yes. This condition is becoming more common, especially among children. If not controlled effectively, eczema will result in poor sleeping habits, difficulties with academic performance, reduced quality of life, greater susceptibility to infections, and potentially even links to other allergies. People lack sufficient information regarding the condition because they normally medicate themselves by applying whatever ointment or steroid to their skin.