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 study of more than 700 individuals found distinct differences in the mix of bacteria in the mouths and lungs of those with severe long COVID.

Published in the European Respiratory Journal, the study found that differences in the lung microbiome were linked to respiratory problems, cognitive difficulties and digestive symptoms associated with long COVID.

The findings may help researchers understand why some people develop long COVID and identify potential treatments, according to the team from the University of Dundee, UK.

"The microbiome is important to maintain health throughout the body, so it is a strong candidate for something that may contribute to long COVID,” said lead author Dr. Daniela Alferes de Lima Headley.

What Did The Study Find?

The observational study included 771 adults who had been hospitalized for COVID-19 between February 2020 and March 2021. Researchers grouped participants according to the severity of their ongoing health problems and symptoms.

The participants had an average age of 57.5 years, and 38.5% were women.

Six months after hospital discharge, researchers collected saliva samples to examine microbes in the mouth and sputum samples to study the lung microbiome. They used DNA sequencing to identify the microbes and analyze their diversity. Participants also completed questionnaires about their symptoms.

The results showed that people with very severe long COVID had distinct differences in their oral and lung microbiomes compared with those who had fewer ongoing symptoms.

Microbiome differences were also associated with:

• • Respiratory problems: Reduced lung function.
  • Cognitive symptoms: Brain fog, memory problems, and difficulty with attention and concentration.
  • Digestive issues: Abdominal pain, nausea, diarrhea and loss of appetite.

Bacterial Changes Linked To Inflammation

Further, the changes associated with long COVID symptoms also included an increased abundance of bacteria that produce lactic acid. These changes were also linked to signs of inflammation in participants' blood samples.

James Chalmers, chair of respiratory research at the University of Dundee, said the greatest microbiome changes were found in people with the most severe symptoms five to six months after COVID-19.

"We also found that changes in the airway microbiome were linked not just to lung problems, but also to symptoms like brain fog and gut symptoms, suggesting the lung microbiome could have effects on health more broadly," he added.

However, the researchers do not yet know whether these microbiome differences existed before COVID-19 or developed after infection. The long-term effects of these changes also remain unknown.

Could The Findings Lead To New Treatments?

Chalmers said more research is needed to understand what causes long COVID, which continues to affect many people worldwide.

Because the microbiome can be altered through interventions such as antibiotics and probiotics, understanding its role could help researchers explore potential treatment options.

What Is Long COVID?

Long COVID refers to new, returning or ongoing health problems that persist four or more weeks after the initial COVID-19 infection. Symptoms can last for months or even years.

Common symptoms include fatigue, brain fog, memory problems, difficulty concentrating and slowed thinking.

Research has also suggested that brain inflammation may persist even after the virus is no longer detectable.

For some women with endometriosis, getting a diagnosis is only the beginning of a long struggle to access treatment and navigate management.

In Canada, long waitlists for specialist appointments are pushing patients to consider expensive surgery abroad, highlighting how delays in care can prolong pain and disrupt everyday life.

Noelle Menu, 37, from Calgary, said her symptoms intensified after she stopped taking birth control while trying to conceive at 26.

Years of pain, emergency room visits, surgery and delays in specialist care eventually led her and her husband to seek private treatment in Tijuana, Mexico.

After being told that waiting several years to see a specialist in Canada was possible, Menu said: “We can’t deal with it in Canada.”

The couple used their savings and went into debt to pay for treatment at EndoGlobal in Mexico. The total cost was approximately $35,000, including travel, accommodation and other expenses, according to CBC News.

Her experience highlights the delay in addressing endometriosis that can intensify debilitating symptoms.

What Is Endometriosis And Why Can It Be Difficult To Diagnose?

Endometriosis is a chronic condition in which tissue similar to the lining of the uterus grows outside it, potentially affecting the ovaries, bowel, bladder and other areas. The resulting inflammation and scar tissue can cause severe menstrual cramps, persistent pelvic pain, painful sex, bowel or urinary symptoms and difficulties conceiving.

The World Health Organization estimates that endometriosis affects around 10% of reproductive-age women worldwide, or approximately 190 million people.

Diagnosis can be challenging because symptoms vary and may overlap with other conditions. There is no single definitive test that identifies every case. Doctors may use a detailed medical history, pelvic examination, ultrasound or MRI, with surgery sometimes needed to investigate or treat suspected disease.

The WHO estimates that diagnosis commonly takes between four and 12 years, leaving many patients managing symptoms without a clear explanation for prolonged periods.

Also read: Endometriosis: Repurposed Anti-Parasite Drug Shows Promise In Mouse Study

How Do Delays Affect Patients?

For patients with severe disease, waiting for specialist care can mean continuing to live with pain that interferes with work, relationships, sleep and fertility plans.

Another Canadian patient, identified in CBC's report as Papiernik, described discovering that endometriosis had infiltrated her colon after a colonoscopy detected a mass. She was referred for specialist care but faced further waits for an appointment and surgery.

“Living like this for two years was just not an option for me,” she said.

Canada's House of Commons health committee has identified gaps in endometriosis care, while the condition's economic impact includes lost productivity and healthcare costs. The issue is not simply whether treatment exists, but whether patients can access appropriate care before symptoms and complications become harder to manage.

Also read: Urine & Vaginal Samples May Help Detect Womb Cancer: Lancet Study Suggests Less Invasive Way To Triage Patients

Does Surgery Cure Endometriosis?

Surgery can remove endometriosis lesions, adhesions and scar tissue, reducing pain and treating complications. However, it is not a guaranteed cure. Symptoms may persist or return, and treatment decisions depend on disease severity, the organs involved, fertility goals and previous treatment.

Hormonal medicines and pain management can also help control symptoms. Some patients benefit from a combination of medical treatment, surgery and ongoing follow-up.

Travelling abroad may offer faster access to specialist treatment, but it comes with financial costs and other challenges. Patients should consider the surgeon's experience, the facility's standards, the possibility of complications and arrangements for follow-up after returning home.

A routine heart scan helped doctors detect pancreatic cancer in a 72-year-old US woman before it was too late. Vicky Titcomb, a Cape Cod bookstore owner and great-grandmother, underwent the scan at Mass General Brigham in March 2025, before traveling to New York City to visit her son.

Although she felt healthy, the scan revealed an abnormality on her pancreas. Further testing confirmed pancreatic cancer, one of the deadliest forms of cancer, CBS News reported.

“I felt like my life just switched in that moment,” Titcomb said. “It was a very weird feeling.”

Titcomb had undergone treatment for breast cancer in 2012.

In 2025, she was diagnosed with stage 1 breast cancer as well as pancreatic cancer. Doctors also found a mass on her ovary, which proved benign after the ovary was removed.

Why Early Detection Matters In Pancreatic Cancer

Pancreatic cancer is often diagnosed after it has spread to other organs. Its five-year overall survival rate is 13%.

The American Association for Cancer Research noted in its 2026 Cancer Progress Report that pancreatic cancer survival rates have shown little improvement despite advances in cancer care.

Doctors at Mass General Brigham planned chemotherapy and radiation to shrink Titcomb’s pancreatic tumor before surgery.

“I was told the size of the (pancreatic) cancer was about the size of a grape. The goal, to me, was trying to make this cancer a raisin,” she said. “That's the way I visualized it.”

The plan was to perform a Whipple procedure, a complex operation that removes the head of the pancreas, part of the small intestine, the gallbladder and the bile duct. Only about one in five pancreatic cancer patients is eligible for this surgery.

Titcomb’s early diagnosis made the operation possible.

“If I had not had that scan when I did, the outcome would have been bad,” she said.

Chemotherapy, Radiation And Surgery

Titcomb began chemotherapy in June 2025, receiving eight doses over four months. She then underwent three weeks of radiation and additional chemotherapy.

Surgical oncologist Dr. Thomas Clancy said she tolerated the treatment “very well.” The therapy shrank the pancreatic tumor enough for surgery.

On November 4, Titcomb underwent surgery to treat her breast cancer. Just over two weeks later, Clancy performed a robotic Whipple procedure to remove the affected part of her pancreas and other structures.

The operation was successful, and Titcomb said she was walking that night. She returned home after several days in the hospital.

Although she was recovering well, Clancy recommended two more months of chemotherapy because pancreatic cancer can be aggressive.

“There was a lot going on,” Titcomb said. “I just tried to cope with the day-to-day.”

No Evidence Of Cancer After Treatment

In March 2026, after further treatment, Clancy told Titcomb she had no evidence of cancer. She will continue to undergo scans every three months.

“She’s living her life. I generally tell patients at this point, ‘You’re done with therapy ... you go about your days,’” Clancy said. “The goal is to not be thinking about it all the time.”

Titcomb is returning to running her bookstore, which family members helped manage during her treatment. She is also spending time with her children, grandchildren and great-grandchildren, keeping in touch with those who live far away through photos, videos and phone calls.