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.”

Sleep is a very crucial part of one's life, and it can affect one's life as a whole. The sleep cycle and duration can determine a lot about one's physical and emotional well-being. Even biological aging is also immensely affected by the right amount of sleep, according to a recent study. The aforementioned research was published in Nature, and as per it, getting too little or too much sleep may speed aging in the brain and other body organs as well.

There were several studies that have been done on the same topic, and many of them concluded that getting less sleep can cause the speeding of one's biological age. Although this new study has come up with a new finding, and it went further than the previous studies on the same topic, the research shows that getting more sleep can also lead you to the same situation, and your biological aging speed can go higher due to it.

The lead study author, Junhao Wen, PhD, assistant professor of radiological sciences at Columbia University, said, “Sleep is fundamental for healthy aging and longevity. More importantly, it is potentially modifiable." He added, “In this study, we measure biological aging clocks across organs to link these clocks with sleep duration.”

The biological age is inherently different from chronological age, which is measured by the number of years one is alive, but on the other hand, biological age measures how quickly your cells and tissues are aging. Researcher Junhao Wen has done his research with different aging clocks, and these clocks are scientific, computational models that estimate a person’s biological age and how they are aging faster or slower than their chronological age.

Wen and his colleagues assessed the relationship between a person’s self-reported sleep duration and their biological age, using 23 aging clocks across 17 organs. The research defined too little sleep as less than 6 hours and too much sleep as more than 8 hours. The study concludes that, in general, people who slept too little or too much showed signs of faster biological aging than those who reported sleeping between 6.4 and 7.8 hours each day.

The same study also sheds light on the relationship between sleep and chronic diseases. The research suggests that a connection exists beyond brain influence. Notably, less sleep causes disorders like depression and anxiety disorders. Other possible conditions related to it are obesity, type 2 diabetes, hypertension, ischemic heart disease, and heart arrhythmias. On the other hand, longer sleep is associated with depression and illness.

Magic mushroom, a fascinating name, but the reason behind this naming is solely due to an active compound in that fungus called psilocybin. Notably, a single dose of it can easily reduce the nerve pain for months, thus has wide and effective use in painkillers according to a study recently done by the researchers from the University of Reading. This crucial study was published in Communications Biology.

The researchers used rats as test subjects to find this information. They injected psilocybin into mice with nerve damage. But within two hours, researchers found that the pain-relieving effect of psilocybin starts to relieve the pain in mice that had excruciating pain due to nerve damage. Though this was by no means the biggest finding of the study, it was also seen that the effect of the compound lasted for several weeks.

How Does Psilocybin Work As A Pain Reliever?

There is a very interesting explanation behind the long-lasting effect of Psilocybin. The active compound does not block the pain signal to the brain like other common pain relievers; instead, Psilocybin is likely to restructure the way the brain's pain-processing networks operate, which in turn ensures long-lasting effects of the compound even long after it exits the body.

What Is The Most Significant Finding Of The Study?

The study finds a great connection of mutual compatibility between psilocybin and gabapentin. Notably, gabapentin is a well-known drug commonly prescribed for nerve pain. In the aforementioned study, the researchers noticed that when gabapentin was given along with psilocybin, it produced pain relief lasting up to four days, but the effect when gabapentin was given alone was far weaker.

Dr Maria Maiarú, senior author from the University of Reading, said, "Millions of people live with nerve pain that their medication simply does not control well enough, and the medicines we do have can cause serious side effects or lead to addiction. What is exciting here is that psilocybin does not just reduce pain on its own. It appears to reset the brain's pain networks in a way that makes existing treatments significantly more effective. For patients who have run out of options, that could be genuinely transformative."

What Are The Other Crucial Findings In The Research?

Although initially the tests were done on the male mice, later on, the same compound was also injected into the bodies of female mice, and in both cases, the effect was complete success in achieving pain relief. The whole study was done with the aim of minimizing distress by using the 3Rs principles of Replacement, Reduction, and Refinement.

Why Is It called A Magic Mushroom?

The name is the direct result of its active compound, Psilocybin, which, when injected, can cause dream-like hallucinations, euphoria, and profound shifts in perception, mood, and consciousness.

Thyroid disorders don’t just affect women — it also affects men and raise fertility risks, said experts today on World Thyroid Day.

While thyroid disorders are commonly linked to symptoms such as weight gain, fatigue, mood swings, and hair loss, experts highlighted a lesser-known impact of thyroid imbalance — its effect on male fertility and reproductive health.

Dr. Piyush Lodha, Endocrinologist at Ruby Hall Clinic, Pune, told HealthandMe that both hypothyroidism (underactive thyroid) and hyperthyroidism (overactive thyroid) can negatively affect sperm health and reproductive function in men.

“The thyroid regulates several important body functions, including metabolism and hormone balance. Even slight thyroid dysfunction can influence fertility because thyroid hormones are closely connected to reproductive hormones,” he explained.

How Thyroid Imbalance Affects Male Fertility

The doctors noted that thyroid hormones play an important role in sperm production, sperm maturation, libido, and sexual performance.

In hypothyroidism, reproductive processes may slow down significantly. Men may experience low testosterone levels, reduced libido, erectile dysfunction, and poor sperm quality.

Dr. Lodha noted that hypothyroidism can negatively affect sperm count, sperm motility, and sperm morphology, lowering the chances of successful conception. Fatigue, depression, and weight gain associated with thyroid disorders may further impact sexual health and self-esteem.

Hyperthyroidism can also affect fertility. Excess thyroid hormone may disturb the hormonal balance required for normal sperm production.

“In men, hyperthyroidism can lead to premature ejaculation, increased oxidative stress, and damage to sperm cells. In some cases, sperm concentration and semen volume may also decrease,” he said.

The expert warned that thyroid-related fertility issues often remain undiagnosed because symptoms develop gradually or are mistaken for stress and lifestyle-related problems.

Early Diagnosis Can Improve Outcomes

The expert stressed that timely diagnosis and treatment can significantly improve reproductive health.

“With hormonal therapy, dietary modifications, and regular monitoring, sperm health and reproductive function can improve over time,” Dr. Lodha explained.

He advised men experiencing unexplained infertility, sexual dysfunction, or persistent fatigue to undergo comprehensive reproductive health evaluations, including thyroid function tests.

Lifestyle Reasons Behind Surging Thyroid Disorders

Dr. Anu Mathew, Consultant Endocrinology, Fortis Hospital, Manesar, told HealthandMe that while women are more at risk, thyroid disorders can also affect men and children, and a lack of awareness often delays diagnosis.

She added that thyroid disorders are increasingly being linked to lifestyle-related factors, despite autoimmune disease remaining the most common cause.

Also read: Heatwaves And Toxic Air Create A Growing Health Crisis In Delhi

Dr. Anu pointed out that subclinical hypothyroidism (SCH) — characterized by elevated thyroid-stimulating hormone (TSH) with normal T3 and T4 levels — has shown strong associations with lifestyle factors in several studies.

“Both iodine deficiency and iodine excess have been associated with thyroid disorders. Lack of sleep, poor sleep quality, chronic stress, smoking, and sedentary lifestyles may also contribute to thyroid dysfunction,” she said.

According to experts, subclinical hypothyroidism has also been associated with increased risks of cardiovascular disease, insulin resistance, and metabolic syndrome.

The doctors, thus, stressed the importance of healthy lifestyle changes to prevent thyroid dysfunction and related complications.

When Thyroid Disorders Become Cancerous

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Dr. Manjunath NML, Senior Consultant – Surgical Oncology and Robotic & Laparoscopic Surgeon at HCG Cancer Hospital, Bengaluru, told HealthandMe thyroid cancer is often difficult to detect early because it grows slowly and may initially cause painless or nonspecific symptoms.

“Small thyroid nodules may go unnoticed because they are not always visible or palpable during routine examinations,” he explained.

Detection may become even more challenging in obese patients, where larger nodules can remain hidden.

Doctors also highlighted that cancerous nodules may sometimes be concealed within multinodular goitre, a condition commonly associated with iodine deficiency and more frequently seen among women in endemic regions.

Other reasons for delayed diagnosis include lack of awareness, socioeconomic barriers, and limited access to specialists and diagnostic technologies such as ultrasound and FNAC (fine needle aspiration cytology).

Experts noted that imaging tools like the TIRADS (Thyroid Imaging Reporting and Data System) scoring system play an important role in classifying thyroid nodules as benign, suspicious, or malignant, helping guide appropriate treatment decisions.