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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
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Parkinson’s disease (PD) symptoms differ between women and men, a new study has found, with potential implications for treatment.
Presented at the 2026 International Congress of Parkinson’s Disease and Movement Disorders in Seoul, the study found that women experienced more severe motor complications and depression. Men, however, had greater cognitive impairment.
“Sex differences in movement disorders remain understudied and undervalued despite having an important impact on clinical outcomes in both real-life and clinical trial settings,” said Dr. Marina Picillo, assistant professor of neurology at AOU San Giovanni di Dio e Ruggi d’Aragona.
Researchers retrospectively analyzed 10 years of clinical data from more than 10,000 Parkinson’s patients examined at a movement disorders clinic in Germany.
The findings showed that women had a greater burden of motor complications and depression. Men were more likely to experience cognitive impairment, REM sleep behavior disorder (RBD) and loss of smell.
“By analyzing data for more than 10,000 PD patients, this study confirmed that depression is more common in women, while RBD, worse cognition, and poorer olfaction are more prevalent in men,” Picillo said. “With good representation of women (40%), it also confirmed a greater female burden of motor complications.”
The findings highlight the need to account for sex differences in Parkinson’s disease management and clinical trial design, particularly given the historical underrepresentation of women in neurological research. However, the factors underlying these differences remain unclear.
Picillo stressed that considering sex differences when tailoring treatment and designing clinical trials could be an important first step toward precision medicine in Parkinson’s disease.
“This would be the very first, basic step for boosting precision medicine in PD,” she said.
Parkinson’s disease is a progressive neurodegenerative disorder caused by the loss of dopamine-producing nerve cells in the brain.
Common symptoms include tremors, muscle stiffness, slowed movement and impaired balance. As the disease progresses, patients may have difficulty walking, speaking and performing everyday tasks.
The condition can also cause cognitive impairment, depression, anxiety, sleep disturbances, pain and swallowing difficulties, affecting patients’ independence and quality of life. Although it primarily affects older adults, younger people can also develop Parkinson’s disease.
Parkinson’s disease affected an estimated 11.9 million people worldwide in 2021. The number is projected to reach 25.2 million by 2050, a 112% increase.
There is currently no established way to prevent Parkinson’s disease. However, research suggests that certain lifestyle and environmental factors may influence disease risk.
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A US lawsuit has accused feminine hygiene brand Carefree of exposing women to perfluorooctanoic acid (PFOA), a chemical linked to certain cancers. The complaint alleges that users developed health problems ranging from yeast infections to liver disease.
The lawsuit, filed in Los Angeles County Superior Court, claims the panty liners contained PFOA, a member of the per- and polyfluoroalkyl substances (PFAS) group, New York Post reported.
The women in the suit claim they suffered health problems, including breast, ovarian and kidney cancer; thyroid disease; chronic inflammation; infections; high cholesterol and immune disorders.
Others allegedly suffered reduced fertility or infertility, while the lawsuit claims the women now live in fear of developing cancer because of their alleged exposure.
“Each plaintiff suffered physical, mental, and emotional pain and suffering, anxiety over her diagnosis and treatment, and loss of enjoyment of life,” the papers state.
But can chemicals in panty liners pose a health risk? Scientific research has detected potentially harmful substances in menstrual products, raising questions about repeated exposure.
Also read: 43% Of Women With Autoimmune Diseases Say They Were Told It Was ‘All In Their Head’: Lancet
PFOA is a synthetic chemical belonging to the PFAS family, commonly known as forever chemicals because some can persist in the environment and human body for years.
Research has linked PFOA exposure to an increased risk of kidney and testicular cancers. Studies have also associated exposure with health concerns involving cholesterol, thyroid function and the immune system.
However, the risks depend on the chemical, the level and duration of exposure, and how it enters the body. The allegations against Carefree do not, by themselves, establish the extent of exposure from panty liners or the resulting health risks.
A February study published in Science of the Total Environment detected endocrine-disrupting chemicals (EDCs), including phthalates, bisphenols and parabens, in sanitary pads and panty liners.
Detection frequencies ranged from 75% to 100% in panty liners and 50% to 100% in sanitary pads. Phthalates were more prevalent in liners, while bisphenols were detected more frequently in pads.
The researchers estimated daily exposure doses of 2–20 nanograms per kilogram of body weight under normal skin-absorption assumptions, rising to 8–80 nanograms per kilogram under alternative exposure assumptions.
The findings highlight menstrual products as a potential source of chemical exposure, particularly when use is repeated over long periods and exposure occurs alongside other sources.
Some endocrine-disrupting chemicals have been investigated for their potential effects on hormonal and reproductive health. However, detecting these substances in menstrual products does not establish that using the products causes cancer.
More research is needed to determine how much of these substances is absorbed during normal use and whether the resulting exposure poses a measurable health risk.
Read More: More Women Buying Testosterone Without Prescription: Can It Help With Menopause?
Chemical exposure is not the only concern associated with panty liner use. Fragrances and other ingredients may trigger allergic reactions or contact dermatitis in people with sensitive skin.
Prolonged moisture and friction can also aggravate irritation around the vulva. Although liners do not necessarily cause bacterial or yeast infections, continuous use may cause discomfort in some people.
Persistent itching, unusual discharge or recurring irritation should be assessed by a healthcare professional.
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Auto antibodies that target the body’s DNA-repair process may provide researchers with some clues about why some children develop cancer. It has opened new avenues for early detection and appropriate treatment, according to a study published in Frontiers in Immunology recently.
A team of researchers from Norway, through the study, identified that children with cancer were more likely to have antibodies that target proteins tasked with repairing damaged DNA.
In a separate group of children whose blood samples had been collected years before they developed cancer, those who were later diagnosed were about eight times more likely to carry these antibodies than their peers who remained free of cancer.
The findings suggest that these antibodies could be an important marker of early indicator of cancer risk. However, the researchers state that further studies are needed to prove whether the antibodies contribute to cancer development and whether they can reliably predict the disease years before.
Also read: Pope Leo XIV’s Lung Cancer Diagnosis: When Should You Worry About Lung Nodules?
Antibodies are proteins that are generated by the immune system. They help recognise and neutralise foreign bodies, like viruses and bacteria.
Sometimes, however, the immune system produces autoantibodies, which mistakenly target the body’s own proteins.
The study found that some children with cancer had elevated levels of autoantibodies against six proteins involved in DNA repair. They are RAD52, NUMA1, ALKBH7, APBB1, UNG and MGMT.
DNA repair is essential because cells constantly go through damage that can lead to errors into their genetic material. When these errors are not corrected, mutations may accumulate and gradually contribute to cancer.
The researchers proposed an unproven theory that the antibodies might enter cells and bind to protein responsible for DNA repair, interfering with their normal function.
Their laboratory experiments provided evidence that these antibodies can enter living cells and localise to a cellular compartment called the TIGER domain.
“We showed that many children with various types of cancer have antibodies against some of their own DNA repair proteins. We also demonstrated that such ‘auto-antibodies’ can enter live cells and bind to – and probably inhibit – the activity of these essential proteins,” said corresponding author Dr Ola Myklebost, emeritus professor of molecular oncology at the University of Bergen.
If the antibodies do impair DNA repair, they could contribute to the accumulation of genetic damage. However, this mechanism has not yet been conclusively observed in humans.
To investigate whether the antibodies appeared before cancer diagnosis, the researchers examined blood samples from 59 children who participated in two British long-term studies: the Avon Longitudinal Study of Parents and Children and Born in Bradford.
Half of the children were subsequently diagnosed with cancer before the age of 30, while the other half had not developed the disease. On average, the blood samples from those who later developed cancer had been collected approximately six years before diagnosis.
“Although this cohort is small, it was the best we could find internationally,” Myklebost said.
He added that children who later developed cancer were about eight times more likely to have antibodies against at least one key DNA-repair protein.
The researchers analysed samples from a broader group of 375 healthy individuals and patients, alongside cancer samples from adults and children with sarcoma or acute lymphoblastic leukaemia.
Childhood cancers are often biologically different from adult cancers. Unlike many adult malignancies, which can accumulate mutations over decades, paediatric cancers may arise in developing cells with fewer accumulated genetic changes. The researchers believe the immune system could play an important role in some cases.
However, the findings do not establish that the antibodies cause cancer. The study also cannot determine how accurately an antibody test would predict future disease in the general population.
The researchers are now investigating whether these antibodies affect DNA repair in laboratory-grown cells and plan to study their potential cancer-causing effects in animal models.
“At present we are investigating the effect of patient antibodies on the repair of induced mutations in cultured cells. Ultimately, we hope to clone white blood cells that secrete such auto-antibodies, and test for any cancer causing effects in mice to definitively prove our hypothesis,” Myklebost said.
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