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 team of researchers in the US has developed a nanoparticle-based technique that could make laser surgeries for kidney stones faster, safer, and potentially reduce the chances of recurrence.

Engineers from the University of Chicago and doctors from Duke University added dark nanoparticles to a common saline solution used in kidney stone laser surgeries. Their method also promised less recurrence of disease.

The research focused on laser lithotripsy, a widely used surgical method in which lasers are used to break kidney or urinary tract stones into tiny fragments that can then be removed by suctioning or pass naturally.

How Nanofluid Boosts Lasery Surgery

Traditionally, surgeons use a small video-guided laser to fragment the stones. However, achieving effective fragmentation often requires higher laser power, which generates additional heat and causes damage to the surrounding tissues.

Thus the new method “is a way to better utilize the laser energy that is already being employed,” said Po-Chun Hsu, assistant professor at the University of Chicago Pritzker School of Molecular Engineering (UChicago PME).

Hsu noted that their nanoparticle-based “nanofluid” also has the potential to enhance the performance of lasers without increasing power levels. This will effectively fragment the stones and remove the dust particles.

The study, published in the journal Advanced Science, describes an innovative saline solution that enhances the performance of existing laser systems without requiring modifications to the equipment.

By adding dark nanoparticles that absorb laser wavelengths, the solution ensures that more of the laser energy is directed at the kidney stone rather than being reflected or dispersed.

“This improves the amount of laser energy that is transmitted to and absorbed by the stones,” said corresponding author Pei Zhong, a professor of engineering at Duke University.

“Nanofluid introduces a new dimension that can influence this complex physical process, independent of the stone composition or the laser being used,” Zhong said.

Kidney Stone Laser Surgery In 10 Minutes

Laboratory tests using artificial kidney stones showed that the nanofluid increased stone ablation efficiency by between 38 and 727 percent in spot treatments and by 26 to 75 percent in scanning treatments.

The researchers also tested the nanoparticle solution on living cells for up to 24 hours and found it to be non-toxic and safe.

In clinical settings, however, exposure would be much shorter. Laser lithotripsy is typically an outpatient procedure lasting about 30 minutes. The researchers believe that improved laser absorption could reduce the procedure time to around 10 minutes.

“If surgeries take too long, waste heat from the laser can accumulate and cause more harm than the stone removal itself,” Hsu said.

Kidney Stones: Symptoms And Prevention

Kidney stones are hard mineral or acid salt deposits formed in the kidneys. It occurs due to concentrated urine, and causes intense, radiating back/side pain, nausea, and blood in urine.

Common causes include

• dehydration,
• diet,
• obesity,
• family history
• metabolic issues

• staying well-hydrated
• reducing sodium levels
• eating fewer oxalate-rich foods
• consuming sufficient calcium-rich foods
• increasing citrus intake.

Former youth player of England, Amy Carr dies at the age of 35. England women's football team too paid tribute on her death. Carr was a former goalkeeper who played for England Under-17s and Under-19s. She was diagnosed with a brain tumor for a second time.

She was diagnosed in 2015 and raised more than £2,000 for charity by running the Dublin Marathon in 2024.

"We are heartbroken to hear that former England youth player Amy Carr has passed away aged 35," read a statement on the Lionesses' X account. "Amy, who was diagnosed with a second brain tumour in 2024, devoted her time to raising money for vital brain tumour research that could help others. She remains an inspiration to all."

Carr also played for Arsenal, Chelsea and Reading before she gained a football scholarship in the USA. Chelsea added on X: "We are saddened to learn of the passing of former Chelsea goalkeeper, Amy Carr. Our condolences are with Amy's friends and family at this time."

What Is Brain Tumor?

Before diving into the concept of a brain tumor, it is important to first understand what a tumor is. A tumor refers to an abnormal lump or mass that forms due to the uncontrolled growth of cells in the body.

tumors are broadly classified into two main categories:

• Benign
• Malignant

A benign tumor consists of normal cells that have grown excessively to form a lump. This overgrowth may result from something going wrong in the body, but the cells themselves are not cancerous. On the other hand, a malignant tumor is made up of abnormal cells that grow uncontrollably. These are cancerous cells, and their aggressive nature can lead to serious health issues.

A brain tumor is a condition in which abnormal cells develop within any part of the brain. Similar to tumors elsewhere in the body, brain tumors can also be benign (non-cancerous) or malignant (cancerous). The presence of a tumor in the brain can interfere with normal brain function, depending on its size, type, and location.

Our bodies possess a natural healing mechanism that is crucial for survival. This repair system is activated whenever there is damage from injury, radiation from the sun, or harmful chemicals in the environment. However, this process can occasionally go wrong. When it does, small clusters of cancerous cells may begin to form. In most cases, the immune system successfully detects and destroys these abnormal cells before they grow. But in rare instances, these cancerous cells evade immune detection and continue to grow, leading to the formation of tumors or cancers.

Such abnormal growths can occur anywhere in the body. When these growths are located in the brain or spinal cord, they are referred to as Central Nervous System (CNS) tumors.

India is home to 25 per cent of the world's annual count of cervical cancer fatalities. According to the World Health Organization GLOBOCAN report of 2022, India reports over 120,000 new cases with nearly 80,000 fatalities. This is the highest death-toll worldwide from cervical cancer each year.

In India, a new case is diagnosed every four minutes, and another woman dies approximately every seven minutes. Persistent infection with high-risk HPV strains, especially types 16 and 18, is the leading cause of cervical cancer. Meanwhile, studies show that even a single dose of the HPV vaccine can provide long-lasting, potentially lifelong protection.

To combat this, India launched a nationwide campaign to vaccinate young girl against the human papillomavirus (HPV). This is also the second most common cancer among women in the country. India kicked off the nationwide campaign on 28 February. Prime Minister Narendra Modi at Ajmer city in the western state of Rajasthan inaugurated this campaign. Vaccines were made available free-of-cost at government facilities to approximately 11.5 million girls aged 14 years across the country.

Currently, approximately one in every 50 girls born in India is expected to develop cervical cancer during her lifetime, and widespread vaccination is likely to reduce this risk significantly," said Partha Basu, Head, Early Detection, Prevention & Infections Branch at the International Agency for Research on Cancer.

What Is Cervical Cancer?

Cervical cancer develops in a women's cervix (uterus opening) due to abnormal cell growth, primarily caused by persistent HPV infection, a common infection that's passed through sexual contact.

When exposed to HPV, the body's immune system typically prevents the virus from causing damage however, in a small percentage of people, the virus can survive for years and pave the way for some cervical cells to become cancerous.

Treatment involves surgery, radiation, and chemotherapy, with early detection significantly improving outcomes, though it remains a major cancer in low-income countries Cervical cancer can also be prevented through vaccination and regular screening (Pap/HPV tests).

Symptoms Of Cervical Cancer

Cervical cancer has no symptoms in the early days and therefore, is hard to detect until it has spread. However, the early-stage symptoms include:

• Vaginal bleeding after sex
• Vaginal bleeding post-menopause
• Vaginal bleeding between periods or unusually heavy/long periods
• Watery vaginal discharge with a strong odor or containing blood
• Pelvic pain or pain during intercourse
• Advanced Cervical Cancer Symptoms (when cancer has spread beyond the cervix)
• Painful or difficult bowel movements or rectal bleeding
• Painful or difficult urination or blood in the urine
• Persistent dull backache
• Swelling of the legs
• Pain in the pelvis or lower abdomen