Credits: Canva
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.”
Credit: AI
Most women who've had preeclampsia remember it as something that happened during pregnancy. The blood pressure spiked, doctors kept a close watch, the baby arrived, and everything went back to normal.
Case closed, or so it seems. But there's a quieter part of this story that doesn't get told nearly enough - what preeclampsia might mean for a woman's heart years down the line.
It's a condition that can happen after the 20th week of pregnancy, when blood pressure rises sharply and starts putting pressure on organs like the kidneys or liver. During preeclampsia, the lining of blood vessels - the endothelium - becomes inflamed and doesn't relax and dilate the way it normally should.
This is the same vessel dysfunction we see in the early stages of coronary artery disease, just decades ahead of schedule. Doctors usually catch it through routine checks - protein in the urine, sudden swelling, or blood pressure readings that don't sit right.
Once the baby is delivered, blood pressure almost always comes back down. That "return to normal," though, doesn't mean the story is over.
Also read: Vitamin D & Pregnancy: Could Vitamin D Deficiency Increase Risk Of Premature Birth?
Think of preeclampsia as an early stress test that the heart didn't quite pass. It is associated with increased risk of hypertension in future and also increase the risk of heart failure, stroke and cardiovascular diseases. And this isn’t a risk that shows up only in old age, in some cases, death happens within the first 10 years after pregnancy.
The risk of heart failure also increases by four-fold and the risk of coronary heart disease by two folds in patients with preeclampsia. The risk of ischemic heart disease and hypertension is elevated too. The risk increases further if preeclampsia occurred early in pregnancy, during multiple pregnancies, or alongside other factors like obesity or a family history of heart disease.
It highlights the importance of life law monitoring of cardiovascular rest factors in a woman who has history of preeclampsia.
Also read: PMOS Isn't Just About Periods Or Pregnancy: Why Women Need To Think Beyond Fertility
Once the baby is here, attention naturally shifts entirely toward the newborn - and a new mother's own follow-ups tend to fall away quietly, usually right after that standard six-week check. That's the gap, we need to close in postpartum care. Women with a preeclampsia history should regularly monitor their blood pressure, cholesterol and blood sugar, and actually bring these numbers up during the consultation.
None of this means preeclampsia guarantees heart disease down the road. It just means the risk picture has shifted, and that's worth knowing. Staying active, eating well, keeping weight in check, and staying away from smoking helps reduce the risk.
More obstetricians and cardiologists are starting to treat preeclampsia as something to track for life, not just for nine months. That shift in thinking could end up protecting a lot of hearts long after the pregnancy itself is over.
By Dr Waseem Farooqui, Consultant, Interventional Cardiology, Cardiac Care, Medanta Hospitals, Noida
Credit: AI Generated Image
After a brain bleed, controlling blood pressure is crucial—but is it enough to prevent another stroke? Neurologists explain why consistent BP monitoring, regular medicines, lifestyle changes, and follow-ups matter after discharge. They also share warning signs families should never ignore and when sudden BP rises require urgent medical attention.
Dr Shubha Subramanian - Senior Consultant - Neurology - Kauvery Hospital, Vadapalani, Chennai told Health and Me, "After a brain bleed, controlling BP is extremely important, but this is only for spontaneous intracerebral haemorrhage, not in cases of an AV malformation, an aneurysm-related bleed, or a traumatic bleed, where the aetiology is different." He added, "In case of idiopathic spontaneous intracerebral haemorrhage, probably because of BP fluctuations or high BP, in that case, for secondary prevention, there will be a reduced number of bleeds if the BP is well controlled. Consistent control is very, very important."
Also Read: CagriSema Beats Lilly’s Mounjaro & Zepbound In New Trial: All About Novo’s Next-Gen Obesity Drug
After a brain bleed, patients should regularly monitor blood pressure and pulse, with diabetics also checking blood sugar at home. Periodic blood tests and ECGs may be advised. Families should watch for confusion, seizures, weakness, changes in speech, or facial drooping. Recognising these warning signs early and maintaining consistent BP control can help prevent another bleed.
"Common mistakes include missing medications, not monitoring blood pressure regularly, stopping follow-up visits when they are feeling better, smoking and consuming too much alcohol, and returning too soon to strenuous activity," said Dr. Soniya Tambe, Consultant, Neurology, Fortis Hospital, Bannarghetta Road, Bengaluru. She added, "Patients also may ignore symptoms such as severe headache, weakness, speech difficulty, or vision changes. These signs should never be dismissed."
Recovery after a brain bleed doesn’t stop when a patient leaves the hospital. The steps taken at home are equally important in reducing the risk of another stroke. Along with taking medicines as prescribed and keeping blood pressure under control, patients should focus on making healthy, long-term lifestyle changes rather than following temporary restrictions.
A balanced, low-salt diet can support recovery, while smoking and alcohol should be avoided. Patients should ease back into physical activity gradually and only with their doctor’s advice, especially in the early recovery period. Getting enough sleep, maintaining a healthy weight, and managing stress are also important. Regular follow-ups help monitor blood pressure and other heart-related risk factors.
Dr. Praveen Chander, Senior Consultant Neurology, Gleneagles Chennai, told Health and Me, "Families should also recognise sudden weakness or numbness, difficulty speaking, confusion, loss of balance, severe headache, or sudden vision changes as possible warning signs. These symptoms require immediate medical attention rather than waiting for them to settle."
Credit: iStock
Alcohol use among US adults has declined for the first time since the COVID-19 pandemic began, driven largely by Gen Z and millennials, a new study found.
However, alcohol use remains above pre-pandemic levels, according to the findings published in the Annals of Internal Medicine.
"It’s encouraging to see alcohol use decline for the first time since the start of the pandemic,” said Brian P. Lee, a hepatologist and liver transplant specialist with Keck Medicine at the University of Southern California and principal investigator of the study.
“However, use remains above pre-pandemic levels and certain groups continue to have concerning trends," he added.
Also read: BORG Drinking Trend: Why These Viral Alcohol Jugs Can Be Dangerous
Researchers analyzed National Health Interview Survey data from 114,352 US adults between 2018 and 2024.
Heavy drinking was defined as five or more drinks per day or 15 or more drinks per week for men, and four or more drinks per day or eight or more per week for women, in the 12 months before the survey.
From 2022 to 2024, any alcohol use fell by nearly 2%, while heavy drinking declined by more than 8%.
Researchers said this was the first confirmed reduction in alcohol consumption since the pandemic began, following increases in drinking reported in previous studies.
The biggest decline in any alcohol use was among Gen Z adults, whose consumption fell by more than 5%.
Millennials recorded the largest drop in heavy drinking, at 17% between 2022 and 2024.
The study did not examine why younger adults reduced their drinking, though researchers noted that changing social attitudes toward alcohol may be one explanation.
In contrast, alcohol use increased among adults aged 50-64. From 2018 to 2024, any alcohol use in this group rose by nearly 4%, while heavy drinking increased by more than 36%.
According to Lee, the increase is particularly concerning because older adults face higher risks of alcohol-related conditions, including liver disease, certain cancers and cardiovascular disease.
"Heavy drinking among ages 50-64 is up by more than a third since 2018, a concerning trend because this age group faces some of the greatest risks of harm from alcohol, including cirrhosis and alcohol-related cancers,” Lee said.
Men saw a larger decline in any alcohol use than women, 2.4% versus 1.1%. However, heavy alcohol use fell more among women than men, 9% versus 7.7%.
Lee noted that understanding differences in drinking patterns could help develop more effective prevention and treatment strategies.
Read More: Heart Diseases, Mental Disorders And Cancer Among 62 Health Risks Linked To Alcohol Use: Study
Excessive alcohol consumption is one of the leading preventable causes of illness and death in the US, according to the Centers for Disease Control and Prevention.
Alcohol accounts for approximately half of all liver-related deaths, while alcohol-associated cirrhosis has become the leading cause of liver transplants, according to Lee.
The World Health Organization says health risks begin with the first drop of alcohol, meaning no level of consumption is completely safe or risk-free.
Although the decline in alcohol use is a positive development, "we cannot assume alcohol-related harms will decline automatically,” said Lee. “Continued attention to screening, prevention and treatment will be critical, particularly among groups where alcohol use remains elevated.”
© $2026 Times Horizon Private Limited