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.”

In a recent video, a neurosurgeon listed things he would start doing if he had to work on his brain health, ‘rebuilding it’, from scratch. Many people are focusing on health and bringing about a change in their life so that their health doesn’t suffer. If you wish to do the same but do not know where to start from, Dr Jay Jagannathan, MD, from Jay Jagannathan, MD, explains five easy steps with which you can start.

Your brain health is affected by many things around you, your habits, your diet, who you spend your time with etc. In the video Dr Jaggannath listed 5 things he would start doing if he had to start working on his brain health from the beginning.

In the caption he explained, “After years in neurosurgery, I’ve learned this: Your brain doesn’t need perfection — it needs consistency, balance, and protection. And the biggest changes often come from the simplest habits.”

5 Ways To Rebuild Your Brain Health

five key steps they would take to completely reset and improve their brain health. These strategies focus on combining strict discipline with intentional rest and mindful activities, recognizing the direct connection between physical habits and mental performance.

Sleep Schedule Discipline

The first and most critical step is maintaining strict sleep schedule discipline. This means committing to getting at least six to eight hours of quality sleep every single night without fail. If the individual has a very early start to their day, they must prioritize going to bed much earlier to ensure they meet this crucial rest quota. Prioritizing consistent sleep is essential for the brain to consolidate memories and perform necessary repairs.

Prioritize Strength Training

The second action involves incorporating regular, low-grade resistance (strength) training into the weekly routine. This exercise is especially important for people who spend long hours on their feet, like surgeons. Committing to low-grade resistance training for at least two to three days per week is considered extremely vital because physical strength and exercise directly support better circulation and overall body health, which feeds directly into improved brain function.

Embrace Regular Meditation and Mind-Body Connection

The neurosurgeon stressed the importance of dedicated time for regular meditation. They pointed out that a strong mind-body interface is crucial for endurance and clarity, particularly in demanding fields like surgery. Therefore, engaging in mindful practices such as yoga or meditation is necessary to establish and maintain that vital connection, allowing the brain and body to work together harmoniously and manage high stress levels.

Avoiding Burnout Cycles

The fourth piece of advice is to actively and consciously avoid burnout cycles. Burnout is a dangerous state of chronic stress that can severely damage both the brain's structure and its ability to function effectively. This strategy requires setting firm boundaries and intentionally managing one's workload and stress levels to prevent ever reaching a point of complete mental and physical exhaustion.

Skip the "Hero" Lifestyle

Finally, the fifth point is to firmly reject the "hero lifestyle" of skipping rest. This is the common, misguided habit of trying to power through intense work periods by constantly sacrificing necessary sleep and rest days. The neurosurgeon advises against this trend, asserting that continuous rest and consistent recovery are not optional but are absolutely non-negotiable for achieving and maintaining sustained high performance and long-term brain health.

With different careers come different work expectations. Some jobs have routine day shifts with regular working hours, popularly known as the ‘9-5’. While other jobs require round-the-clock service. However, did you know what shifts you chose to do have an effect on your health as well?

Ranking the best to worst shifts, Dr Sudhir Kumar, a Hyderabad-based neurologist, recently made a post on his social media platform. He explained that the way you schedule your work shifts can have a major impact on your long-term health. The ideal work schedule is one that matches your body's natural clock. Below is a ranking of three common shift types, based on their effects on your health.

Day Shifts: The Healthiest Option

Why Day Shifts are Best for Your Body

Working during the day perfectly matches your circadian rhythm, or internal clock. Your body is naturally built to be awake when it's light and rest when it's dark, allowing vital processes like hormone production and cell repair to function efficiently and keep your system stable.

Benefits of a Stable Schedule

Day shifts allow for quality, full sleep, which is crucial for long-term health. Workers face a lower risk of serious issues like obesity, diabetes, high blood pressure, and heart disease. This stable routine also lowers the risk of depression, anxiety, and certain cancers, making it the healthiest choice.

Fixed Night Shifts: Acceptable but Not Ideal

Partial Adaptation to Night Work

If night work is unavoidable, a consistent fixed night shift is superior to a constantly changing schedule. The benefit is that the body can establish a slightly more consistent sleep routine over time, allowing for a better partial adjustment to the reversed daytime sleep schedule than an erratic one.

Significant Remaining Health Risks

However, stable night shifts still cause chronic misalignment with the natural day-night cycle. This leads to higher long-term risks of metabolic disorders, insulin resistance, and mood problems. Additionally, it disrupts social and family life, contributing to ongoing sleep deprivation and substantial health risks.

Rotating Shifts: The Worst for Health

Maximum Disruption to the Body Clock

Constantly changing shifts are the most harmful because the internal clock cannot adapt to the varying schedule. This causes the maximum possible circadian rhythm disruption, confusing the body about when it should be awake, resting, or performing essential processes.

Increased Risk of Serious Illness

This chaotic schedule is linked to severe sleep issues and unhealthy fluctuations in stress hormones. This increases the risk of serious illnesses, including cardiovascular disease, diabetes, and mood disorders. Rapid shifts, like moving from night to morning duty, dangerously increase fatigue, raising the risk of accidents.

Final Ranking for Long-Term Health

At the end of the post Dr Kumar reiterated that the best to worst working hours for your body.

• Day Shift (Best)
• Fixed Night Shifts (Moderate Risk)
• Rotating Shifts (Worst Risk)

While there are ways to manage your health around your working hours, it is important to make sure you give your body as much stability as possible. Make sure you speak to a healthcare professional and build a routine that will help your body maintain its level of functioning while also keeping your health in check.

Have you or someone around you experienced nightly leg cramps that disrupt their sleep? While you may think of it as harmless, it is more dangerous than you realize. Warning people about the same, in a recent video on social media, Dr. Rema Malik Board-Certified Vascular Surgeon in Houston, reveals that this persistent, painful nighttime leg cramps are often a distress signal from your blood vessels, not just a simple mineral imbalance.

The doctor explains that this is not just a simple case of ‘charley horse’, which are muscle cramps that occur in the body, often legs. It is a phenomenon where the muscles in the body go through a spasm, meaning it contracts without your control and does not relax. While these may be the cause behind your leg cramps at night, there could be more to it than you realize.

What Causes Night Leg Cramps?

The most common reason for nighttime cramping is Venous Insufficiency. This condition occurs when the tiny one-way valves inside the leg veins weaken or become damaged. After spending hours sitting or standing throughout the day, these faulty valves allow blood to flow backward and pool in the lower legs due to gravity.

At night, this buildup of stagnant blood and fluid, which is full of metabolic waste products, irritates the local nerves and muscles. This irritation then triggers the intense, involuntary muscle contractions known as cramps, and it is also often associated with that uncomfortable, crawling sensation known as "restless legs."

Why Are Night Leg Cramps Dangerous?

A more serious cause of these cramps is Peripheral Artery Disease (PAD), particularly in its advanced stages, which is sometimes referred to as "rest pain." PAD develops when the arteries supplying blood to the legs become narrow or blocked by plaque buildup (atherosclerosis).

When the leg muscles are not receiving enough oxygen-rich blood—a state called ischemia—they begin to signal distress. If the blockage is severe, the muscles can be starved of oxygen even when the body is completely at rest, leading to crippling pain that serves as a critical, limb-threatening warning sign that requires urgent medical investigation.

Why You Should Not Ignore Random Aches And Pains

It is important to understand that persistent nighttime leg cramps should not be dismissed as simply a "normal part of aging."

While the risk of vascular issues like Venous Insufficiency increases after age 40 and PAD after age 50, the pain is a clear message from the body that something is structurally wrong with the blood vessels.

Ignoring this persistent pain can lead to serious health complications down the line. Therefore, if these cramps are a regular occurrence, seeking a consultation with a specialist, like a vascular surgeon, is necessary to correctly diagnose the underlying cause and begin appropriate treatment.

When Should You Get Your Muscle Cramps Checked?

According to MedlinePlus, most muscle cramps are harmless and disappear quickly, usually within a few minutes. However, you should call your doctor or healthcare provider if your cramps become severe or happen frequently. It's also important to seek medical attention if the cramps don't improve after stretching or drinking enough water, last a long time, or if they occur along with other concerning symptoms such as swelling, redness, a warm feeling in the area, or if you also experience muscle weakness.