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.”

A visit to the emergency ward (ER) of a hospital can definitely feel scary, and you want every reason to avoid ending up there as a patient. From broken bones to life-threatening emergencies, it’s a place filled with urgency, uncertainty, and intense emotions. Imagine what doctors and other health workers face every day.

However, while many cases are unavoidable, there are several that can be completely prevented, said doctors, while sharing a few. These include:

• Symptoms ignored for long

However, ignoring symptoms like a persistent stomachache or a nagging cough can allow a condition to worsen over time, eventually leading to an emergency.

“People say, ‘It’s pretty mild. I’m not worried about it,’” Dr. Evelyn Huang, an emergency-room physician with Orlando Health, was quoted as saying to Time.

“Days become weeks, weeks become months, and months can even become years, and by the time they're seeing me, these things have progressed so far that they’re now something dangerous.”

Seeking timely medical advice and not delaying checkups can help prevent complications and avoid unnecessary ER visits, the expert said.

• Drowning

Dr. Cheyenne Falat, assistant medical director of the adult emergency department at University of Maryland Medical Center stated that every time a patient comes ER with a drowning case, he hears the same story.

“I would have been watching them, but I thought the babysitter was watching them. I thought my spouse was watching them. I thought their grandparents were watching them.”

The doctor recommended instead starting swimming lessons as early as possible. She also urged for fences with childproof gates near pools.

• Falling

• Frostbite and hypothermia

People often don’t realize how quickly conditions can turn.

“They think, ‘I won’t be at risk for hypothermia because it's a little warmer during the day,’” said Falat. “Then they sweat,” which can leave their clothing damp and their bodies more vulnerable once temperatures drop.

Heat-related illnesses include mild dehydration to heat exhaustion and, in the most extreme cases, heat stroke, which can be deadly.

• Choking during sex

Recently, for example, he treated a young woman who came to the ER with neck pain, a hoarse voice, and bruising; she assured Yoo that she had wanted her partner to choke her. “I’m not judging anyone who enjoys this, but it's way more dangerous than people think,” he said.

• Party drug

A harmless party drug -- gamma-hydroxybutyric acid, or GHB -- can also turn life-threatening. It is a clear, odorless substance sometimes called “liquid ecstasy.”

While in small amounts, it can make people feel relaxed or euphoric, but when taken in overdose, it can lead to unconscious and breathing difficulties. “It’s one of the most awful sights,” Yoo said , adding that in severe cases, some patients need to be put on a ventilator to survive.

In today’s hyper-connected world, access to health information has never been easier. Yet, ironically, the ability to understand and apply that information remains one of the biggest barriers to better health outcomes.

This is where health literacy comes in, not just the ability to read a pamphlet or follow a doctor’s prescription, but the broader skill of accessing, comprehending, and using health information to make informed decisions for oneself, one’s family, and one’s community.

While definitions vary, there is consensus that health literacy is multi-dimensional. It involves confidence, critical thinking, and practical skills, knowing when to seek care, how to evaluate health claims, and how to follow treatment correctly. In essence, health literacy is the foundation of preventive care and treatment adherence, and its absence can be devastating.

The Challenge of Low Health Literacy in India

The scale of the problem in India is stark: nearly 90 percent of Indians have low health literacy. This gap directly affects patient outcomes, from delayed diagnoses and poor compliance with treatment to preventable complications and higher healthcare costs.

Several factors explain this reality:

• Low literacy levels: A significant proportion of the population cannot read or interpret basic medical instructions, leading to mismanagement of conditions.

• Poverty and affordability: For millions living on less than INR 100 a day, awareness alone is not enough when healthy choices remain unaffordable.

• Gender and cultural barriers: Women often have lower access to information and autonomy in health decisions, particularly around reproductive and maternal health.

• Distrust in healthcare systems: Overcrowded facilities and inconsistent care erode confidence, driving many to informal or unverified sources.

Low health literacy doesn’t just harm individuals; it amplifies inequities and strains the entire healthcare ecosystem. It also worsens misinformation, as people turn to social media or word-of-mouth for guidance, often encountering unverified or unsafe advice.

Planning for pregnancy is an important step that requires proper health preparation for both partners. Preconception health screening helps couples understand fertility status and detect any underlying health issues. Doctors recommend that couples undergo certain medical tests before trying to conceive so that any health concerns can be identified and managed early. Here are some of the tests before pregnancy that can help couples identify potential risks early and improve the chances of a healthy pregnancy. Couples should opt for these tests without fail to ensure a smooth pregnancy.

While many people focus on health during pregnancy, preparing for pregnancy is also equally important. By opting for some crucial tests, couples can improve their chances of a smooth pregnancy and reduce the risk of complications.

Dr. Payal Narang, Consultant Obstetrician & Gynaecologist, Motherhood Hospital, Lullanagar, in an interview with Health and Me, listed some of the important health check-ups for men and women that must be considered before pregnancy.

Important tests for women

1. Infection screening: The expert can advise screening for infections such as rubella, hepatitis B, and HIV that can affect pregnancy or the baby’s health. Hormone tests help assess ovulation and reproductive health. These tests may help detect conditions such as polycystic ovary syndrome (PCOS) or hormonal imbalance. Tests such as anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH), and luteinizing hormone (LH) may be advised to evaluate ovarian reserve and fertility potential.
2. Pelvic ultrasound: Will be carried out to examine the uterus and ovaries to identify conditions such as fibroids, ovarian cysts, or structural abnormalities. It can also help in detecting abnormalities, endometriosis, or polycystic ovaries that may impact fertility.
3. Complete blood count: Complete blood count (CBC) will help to detect anemia, infections, and your body’s overall readiness. Low hemoglobin is common in Indian women and can lead to fatigue. Treating anemia before pregnancy is important, as low haemoglobin levels can increase the risk of complications during pregnancy and delivery.
4. Rubella IgG Antibody Test: Did you know? Rubella infection during pregnancy can raise the chances of serious birth defects. This test shows if you’re already immune or if you need a vaccine before trying to conceive and prevents any problems.
5. Blood Group and Rh Factor: Should be done to ensure safe pregnancy. If a woman is Rh-negative and her partner is Rh-positive, the expert will examine further to prevent immune-related issues during pregnancy. So, discuss this with the doctor.
6. Vitamin D and B12 screening: Vitamin D and B12 screening shouldn’t be missed: Vitamin D and B12 deficiencies are common in women and can impact fertility, egg health, and fetal development. The expert will suggest supplements to deal with these deficiencies and stay healthy.
7. Blood sugar and HbA1c testing: Screening for diabetes or prediabetes is important before pregnancy, as uncontrolled blood sugar levels can increase the risk of miscarriage, congenital abnormalities, and pregnancy complications.

Health check-ups for men

1. Semen analysis is necessary for men: Helps to know the sperm count, movement, and quality. It helps determine whether sperm health is adequate for successful conception. Men don’t hesitate and get the semen analysis done on a priority basis.
2. Hormone tests: Hormone levels such as testosterone may be checked if there are concerns about fertility or low sperm production. Tests for follicle-stimulating hormone (FSH), luteinizing hormone (LH), and prolactin may also be recommended in certain cases.
3. Genetic Testing: Can be done to pick up any genetic factors or chromosomal abnormalities that may affect sperm quality. Carrier screening can help detect inherited genetic conditions such as thalassemia or cystic fibrosis that may be passed on to the baby.

Couples should follow the advice given by the doctor and take these tests for a smooth pregnancy.