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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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Dehydration is a serious concern for people fasting during the month-long Ramadan period, and can severely impact kidney and prostate health. Experts suggested that avoiding excess salt and caffeine can help.
While Ramadan fasting is generally safe for people with early-stage chronic kidney disease (CKD), maintaining adequate hydration between iftar and sehri -- the two important meals each day for faithful observing the fasting -- is of significant importance.
Dehydration can lead to acute kidney injury and electrolyte imbalances for individuals with advanced CKD. As prolonged fasting hours -- more than 12 hours a day -- urine becomes concentrated, increasing the risk for kidney stones and Urinary Tract infections (UTIs).
For men with prostate problems, fasting during Ramadan can pose challenges, such as Benign Prostatic Hyperplasia (BPH) or an enlarged prostate, primarily due to dehydration.
“As a practicing urologist and kidney transplant surgeon in India, I often notice a rise in kidney stone pain and urinary infections during Ramzan. When patients fast for long hours -- especially in our warm climate -- urine becomes highly concentrated. That increases the risk of stones and UTIs. Men with prostate enlargement sometimes report worsening urinary flow because they consciously reduce fluid intake,” Dr. Pankaj Panwar, Additional Director, Urology, Fortis Escorts Okhla, New Delhi, told HealthandMe.
The doctor advised people “to hydrate strategically between Iftar and Sehri, avoid excess salt and caffeine”.
Consuming high-sodium foods such as processed meats, pickles, salty snacks, and fast food during iftar or sehri can increase thirst and dehydration.
High salt intake forces the body to pull water from cells to dilute the sodium, leading to severe thirst. It can also lead to bloating.
Similarly, caffeine in coffee, tea, chocolate, and energy drinks can be diuretic and cause the body to lose fluids and salts through increased urination. Particularly, drinking coffee or tea at sehri -- the pre-dawn meal -- can lead to faster dehydration during the day.
Caffeine consumption, especially late in the evening, can also interfere with sleep, making it harder to wake up for sehri.
“Ramzan is a sacred month of fasting, but prolonged abstinence from water, especially in hot climates, can increase dehydration risk. Concentrated urine puts stress on the kidneys and may worsen kidney stones or trigger urinary tract infections,” Dr. Mangesh Patil, Urologist at Saifee Hospital, Mumbai, told HealthandMe.
Dehydration during Ramadan fasting can lead to symptoms like headaches, extreme thirst, fatigue, and dizziness. But in case of severe dizziness, fever, confusion, or blurred vision, the experts warned of immediate medical help.
“Do not ignore warning signs like flank pain, fever, or difficulty passing urine. A little planning can prevent an emergency hospital visit,” Panwar said.
Patil said warning signs include severe flank pain, burning urination, fever, vomiting, blood in urine, or reduced urine output. Men with Benign Prostatic Hyperplasia may notice worsening urinary symptoms.
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Colon (colorectal) cancer begins when small growths called polyps form on the inner lining of the colon or rectum. Over time, changes in the DNA of these cells can cause the polyps to become cancerous.
As abnormal cells multiply, they replace healthy cells and eventually form a mass known as a tumor. This process develops slowly, often taking up to ten years for a precancerous polyp to turn into cancer and begin showing symptoms.
Colon cancer poses serious health risks because cancerous cells can invade healthy tissues. Over time, they may break away and spread to other parts of the body, making detection more difficult since the symptoms can resemble other conditions.
Colon cancer can be difficult to detect because it often develops without obvious symptoms. However, doctors emphasize that the number one warning sign is rectal bleeding or blood in your stool.
"Colon cancer can be hard to diagnose because it can develop asymptomatically,” said Dr. John Nathanson, a gastroenterologist at New York-Presbyterian Allen Hospital.
Dr. Pratima Dibba adds that this symptom should not be misdiagnosed as hemorrhoids, infection, or constipation, since early signs of colon cancer can look similar.
She urges patients to get checked promptly to rule out serious conditions.
Research from the Cleveland Clinic also shows that blood in stool can originate anywhere in the gastrointestinal tract, including the colon.
Detecting colon cancer early is critical, as survival rates can be as high as 90 percent when caught in its initial stages.
Persistent changes in bowel habits (diarrhea, constipation, or narrowing of stool). Other signs include:
Colorectal cancer (CRC) is a major health concern worldwide. In India, it is the fourth most common cancer among both men and women. In 2022, there were 64,863 new cases and 38,367 deaths.
Projections suggest that incidence will continue to rise by 2026, reflecting both lifestyle changes and improved detection.
Compared to developed countries, survival rates in India remain lower, largely due to late-stage diagnosis and limited access to screening programs.
The American Cancer Society notes that colorectal cancer is a cancer that starts in the colon or the rectum. Colorectal cancer impacts around 1.9 million people every year, noted the World Health Organization (WHO) as per its 2022 data.
Some of the risk factors include risk factors involve being over the age 50, family history, certain genetic syndromes (like Lynch syndrome), inflammatory bowel diseases, and lifestyle factors (diet high in red meat, alcohol, smoking, inactivity).
The most effective way to prevent colorectal cancer is through annual colonoscopies, screening and stool tests.
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Ever wondered how your body generates antibodies in the face of a virus attack? A new study by French researchers showed that our age, biological sex, and human genetic factors can determine our immunity levels.
The human body, when exposed to a virus, defends itself by producing molecules called antibodies. Their main function is to identify pathogens and kill them.
Scientists from the Institut Pasteur, the CNRS, and the Collège de France noted that these factors not only boost the quantity of antibodies produced in the body but also determine the specific viral regions to target.
The February 2026 study, published in the journal Nature Immunology, can pave the way for the development of personalized treatments, especially for individuals who are most vulnerable to infection.
"This study provides a detailed, integrated view of how age, sex, and human genetics shape the antibody response," said Lluis Quintana-Murci, Head of the Human Evolutionary Genetics laboratory at the Institut Pasteur.
"It shows that these factors even determine which specific regions of a given virus are targeted by antibodies, with important implications for vaccine and therapeutic design," Quintana-Murci added.
How Age And Sex Influence Immunity
The findings revealed that individuals produce antibodies that target different parts of the virus when attacked by the same virus. Age was identified as the dominant factor influencing antibody production. The team noted that more than half of the antibody repertoire varies depending on age.
Further, some antibodies were found to increase with age, while others decreased. This was seen particularly in the case of influenza H1N1 and H3N2 viruses.
In young adults, the antibodies mainly targeted a part of the viral surface protein known as hemagglutinin (HA), which evolves rapidly. In older individuals, it focused on a more stable region of the same protein known as the stalk domain.
Women were also found to produce more antibodies against HA. On the other hand, men tended to target other viral proteins (NP and M1), despite comparable vaccination rates between the two sexes.
How Human Genetics Shape Antibody Production
The team identified mutations in genomic regions known to encode the immunoglobulin repertoire. These variants determine which genes are used to produce antibodies.
Using an African cohort, the study revealed population disparities in terms of the molecular targets of their antibody repertoires.
In the case of Epstein-Barr virus (EBV), antibodies were found to recognize different viral proteins depending on the geographical and epidemiological context.
This difference can be explained by the level of exposure -- Africans are more exposed to a particular strain of EBV in which the protein EBNA-4 is the primary antibody target.
How Was The Study Conducted?
The research is based on data from the Milieu Intérieur cohort, launched 15 years ago to study variations in the immune response in 1,000 healthy individuals.
Using an innovative sequencing technology, the scientists analyzed blood plasma samples to measure antibody responses against more than 90,000 fragments of viral proteins, covering a large number of viruses responsible for infections such as influenza, respiratory infections, gastroenteritis, and herpesvirus infections.
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