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.”

Women can play a major role in preventing as well as eliminating Chagas Disease, a potentially life-threatening neglected tropical disease that affects 8 million people globally and causes 10,000 deaths every year, according to UN agencies.

World Chagas Disease Day is observed every year on April 14 to raise awareness around the disease, and the impact it has on lives.

In a statement, the Pan American Health Organization (PAHO) and the Global Chagas Coalition urged health authorities to make women central to the fight against the disease and to empower them to make early detection, prevention, and care.

“Eliminating Chagas disease as a public health problem requires placing women at the center of diagnosis, treatment, and care strategies,” said Dr. Jarbas Barbosa, PAHO Director.

“Ensuring timely access to quality health services, particularly for women of reproductive age, is essential to prevent new infections and advance toward the elimination of congenital Chagas disease in the Region of the Americas,” he added.

What Is Chagas Disease?

Chagas disease, also known as American trypanosomiasis, is a illness caused by the parasite Trypanosoma cruzi, and is primarily transmitted by triatomine insect vectors.

It gets spread through

• oral transmission,
• blood transfusion,
• mother-to-child.
• through transplants of some organs (such as heart or kidney)
• through laboratory accidents.

If left untreated, one third of infected people—including women and the children they carry—will develop life-altering heart, digestive, and even neurological conditions, and may even become fatal.

Once endemic to 21 countries in Latin America, the disease has now spread globally due to migration. It is now a global health concern with cases found in 44 countries including the US, Canada, Europe, Australia, and Japan.

World Chagas Disease Day 2026: Theme

World Chagas Disease Day was celebrated for the first time in 2020.

The theme this year is “Women at the heart of care, protecting the next generation” and underscores the key role women play in family and community caregiving, as well as their greater interaction with health services, particularly during pregnancy.

Chagas Disease: Role Of Women

According to the World Health Organization (WHO), about 2 million women aged 15-44 years are living with Trypanosoma cruzi infection worldwide.

Congenital transmission or mother-to-child transmission remains a major challenge, occurring in about 3–5 percent of pregnancies. However, it also provides a key opportunity for effective intervention.

The transmission cycle of the disease can be effectively broken by

• Treating infected girls and women before pregnancy
• Strengthening screening in maternal and child health services
• Eaccess to diagnosis and treatment.
• Newborn screening can help diagnose and treat, with a cure rate exceeding 90 percent.
• Increase awareness at community and family levels.
• Avoid foodborne transmission

“On the contrary, it represents a strategic opportunity to strengthen more equitable, accessible, and responsive health systems that recognize and respect women’s needs.”

The BBC Breakfast host Naga Munchetty has opened up about her experience of suffering from a painful womb condition, known as the "evil twin sister of endometriosis".

The 51-year-old Naga Munchetty explained her condition as adenomyosis, which can cause extreme pain at any time. Munchetty added that she has faced the condition even while presenting her show, The Independent reported.

Naga Munchetty said that adenomyosis has caused her severe pain since she was in her teens, and she has “become conditioned to accept” it.

“If you’re curled up on the floor screaming, sweating, flooding, passing out, vomiting, that is debilitating. But you end up normalizing that pain.”

What Is Adenomyosis

Adenomyosis is an extremely painful condition, which affects the womb and causes the uterus to enlarge. Although it affects an estimated one in 10 women, it remains undiagnosed in most women.

It is a lesser-known but significantly debilitating gynecological disorder that is commonly mistaken for endometriosis.

Adenomyosis leads to debilitating symptoms such as

• intense pain
• heavy menstrual bleeding,
• cramps,
• abdominal bloating
• fertility issues.

Differences Between Endometriosis And Adenomyosis

Adenomyosis occurs when endometrial cells—typically restricted to the lining of the uterus—break through the myometrium, the muscular wall of the uterus.

Endometriosis, on the other hand, happens when tissue similar to the lining of the uterus grows outside the uterus. These tissues commonly develop on the ovaries, fallopian tubes, or the pelvic lining.

In contrast, adenomyosis is inside the uterus but produces serious complications. These out-of-place endometrial cells continue to act as they would in a regular menstrual cycle, becoming thick and shedding, which leads to internal bleeding, inflammation, and intense pain.

Adenomyosis: The Condition Without Treatment

Despite going to the doctors several times, Naga Munchetty was not diagnosed until recently, as she was led to believe the pain she was experiencing was “normal”.

No absolute cure for adenomyosis exists except for a hysterectomy, which involves the removal of the uterus. Nevertheless, several treatment options can alleviate symptoms and enhance quality of life. These include:

1. Pain Relief

Ibuprofen and naproxen, over-the-counter pain medications, are usually prescribed to relieve menstrual cramps and pain.

2. Hormonal treatment such as

• Birth control pills
• Hormonal IUD (Intrauterine Device)
• Progesterone therapy

GnRH agonists, such as Lupron, induce temporary menopause by suppressing estrogen production, thereby reducing adenomyosis symptoms. However, these injections can cause severe side effects, including mood swings, hot flashes, and bone density loss, making them unsuitable for long-term use.

4. Surgical Intervention

• Endometrial Ablation: This involves the removal of the uterine lining to manage heavy bleeding, but it is not a permanent solution and is not suitable for women who want to become pregnant.
• Uterine Artery Embolization (UAE): A non-surgical procedure that cuts off the blood supply to the affected areas, reducing the size of the adenomyotic tissue.
• Hysterectomy: The only permanent solution for adenomyosis, a hysterectomy is usually considered as a last option for women who have finished their childbearing years.

Hypertension, or high blood pressure, is caused by excessive salt intake; however, according to scientists, there are more reasons. Experts also blame a brain glitch. A part of the brain that makes us breathe while laughing or coughing could also cause a blood pressure spike, as per researchers from New Zealand and Brazil. This could explain why medication is not enough for controlling BP in some people. According to experts at the University of Auckland, there is a part of the brain that could cause high BP, thereby suggesting that the brain is responsible for hypertension.

Is the brain responsible for high BP?

Experts say that the lateral parafacial region is located in the brainstem. It is the oldest part of the brain and regulates heart rate, digestion, and breathing. Its action causes one to exhale during a cough, laugh, or workout. These actions are driven by abdominal muscles. Researchers also found that this area could connect to the nerves that tighten blood vessels and raise blood pressure. However, it is possible to reverse this action by inactivating this region.

What is hypertension?

Hypertension, or high blood pressure, is a condition wherein blood pushes against the walls of the blood vessels with too much force. Initially, it has no symptoms, but it is a silent killer. Over time, untreated high BP can lead to a stroke or a heart attack. While it is mostly believed to be a consequence of smoking, drinking alcohol, eating salty foods, and not exercising, experts have found other causes as well. As per research by the University of São Paulo in Brazil and the University of Auckland in New Zealand, published in the journal Circulation Research, rat brains had their brain cells in the lateral parafacial region switched off.

How is high BP triggered by the brain?

Researchers in the study successfully reactivated neurons in some rats and found that brain circuits ultimately raised BP. Experts mapped out what happened and compared it with rats that did not have hypertension. In the hypertensive group, lateral parafacial region neurons were helping with breathing but were also raising BP. This suggests that changes in breathing, which involve abdominal muscle contractions, can also trigger high BP. This is why patients with sleep apnoea experience interrupted breathing while sleeping and high blood pressure.

Apart from normal breathing, lateral parafacial region neurons are activated when oxygen levels are low. Experts also checked whether they could trigger the brainstem with medication. They noted that it was tricky because drugs would work on the entire brain and not a specific region. It could be activated by signals from the neck cells near the carotid artery. These can be safely targeted with medication.

How to control persistent high BP?

To control persistent high BP, medication every day is a must. But to intensify the benefits, try the following simple tricks:

1. Reduce salt intake
2. Meditation
3. Quit smoking
4. Lose weight
5. Limit alcohol intake