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.”

White sugar is widely known for its harmful effects on health. As a result, many people—especially those with Type 2 diabetes—turn to low- and no-calorie sweeteners such as aspartame, saccharin, and erythritol, believing they are a healthier alternative.

However, a new study published in Neurology, the medical journal of the American Academy of Neurology, has again suggested that higher consumption of certain artificial sweeteners may be associated with faster declines in memory and thinking skills over time.

The researchers stressed that the findings do not prove these sweeteners cause cognitive decline. Instead, they show an association, meaning other factors could also contribute to the observed pattern.

"Low- and no-calorie sweeteners are often seen as a healthy alternative to sugar. However, our findings suggest certain sweeteners may have negative effects on brain health over time," said study author Claudia Kimie Suemoto from the University of São Paulo, Brazil.

What Did the Study Find?

The study followed 12,772 adults in Brazil, with an average age of 52 years, for approximately eight years. Researchers examined the intake of seven commonly used low- and no-calorie sweeteners:

• Aspartame
• Saccharin
• Acesulfame K
• Erythritol
• Xylitol
• Sorbitol
• Tagatose

These sweeteners are commonly found in ultra-processed foods and beverages, including flavored water, soft drinks, energy drinks, yoghurt, desserts, and products marketed as low-calorie. Many are also sold separately for use in coffee, tea, cooking, and baking.

The researchers found that people with the highest total intake of sweeteners experienced a 62% faster decline in overall thinking and memory abilities than those with the lowest intake. This difference was estimated to be comparable to about 1.6 additional years of brain ageing.

Participants in the middle consumption group also showed a 35% faster decline, equivalent to approximately 1.3 additional years of ageing.

The association was especially strong among people with diabetes, who are more likely to use artificial sweeteners as sugar substitutes.

Stronger Link in Adults Under 60

Age also appeared to influence the findings. Among participants younger than 60, those who consumed the highest amounts of sweeteners experienced faster declines in verbal fluency and overall cognitive performance than those with the lowest intake.

Researchers did not observe the same association among participants aged 60 years and older. The study found that aspartame, saccharin, acesulfame K, erythritol, sorbitol, and xylitol were associated with faster declines in overall cognition, particularly memory. Tagatose was the only sweetener not linked to cognitive decline.

"While we found links to cognitive decline for middle-aged people both with and without diabetes, people with diabetes are more likely to use artificial sweeteners as sugar substitutes," Suemoto said. "More research is needed to confirm our findings and to investigate if other refined sugar alternatives, such as applesauce, honey, maple syrup or coconut sugar, may be effective alternatives."

Are There Any Limitations?

The researchers also acknowledged several limitations in study :

• It did not evaluate every artificial sweetener currently used in foods and beverages, so the findings cannot be applied to all sugar substitutes.
• Dietary intake was self-reported, meaning participants may have inaccurately remembered or estimated what they consumed.
• The study was observational, meaning it identified an association but cannot establish that artificial sweeteners directly caused cognitive decline.

Brain disorders are becoming one of India's fastest-growing public health challenges, said health experts ahead of Brain Day on July 22.

The experts highlighted that an ageing population, rising lifestyle diseases and limited access to specialist care are contributing to an increasing burden of conditions such as stroke, epilepsy, Parkinson's disease, dementia and multiple sclerosis.

Access Gap Delays Diagnosis, Treatment

Dr. Madhukar Bhardwaj, Director & Head of Department, Neurology, Aakash Healthcare, said neurological disorders have become one of India's most urgent healthcare concerns.

"Neurological disorders are no longer a concern of a small section of the population—they are one of the most pressing emerging healthcare challenges of our time. In a country as vast and diverse as India, with a rapidly ageing population, this is a matter of urgency. What makes the situation even more worrying is the lack of equitable access to care," he said.

According to the World Health Organization's Global Status Report on Neurological Disorders (2025), India faces a severe shortage of neurologists, with the neurologist-to-patient ratio nearly 80 times worse than in high-income countries, leaving specialist care concentrated in major cities.

Stroke Increasingly Affects Younger Adults

Experts also highlighted a worrying shift in disease patterns, with strokes increasingly affecting younger people. Dr. Bhardwaj said strokes, once considered a disease of older adults, are now being seen more frequently among people in their 30s and 40s, underscoring the need for greater awareness and prevention.

Lifestyle Diseases Driving Brain Disorders

Doctors identified uncontrolled hypertension, diabetes, obesity, smoking, chronic stress, physical inactivity and poor sleep as major contributors to the rising burden of neurological diseases.

Dr. Rajas Deshpande, Consultant and Head of Neurology, Jupiter Hospital, Pune, said many neurological conditions share common lifestyle-related risk factors.

"Controlling hypertension, diabetes, obesity, smoking and physical inactivity can significantly reduce the risk of stroke and vascular dementia. Prevention deserves as much attention as treatment because many neurological disorders share common modifiable risk factors," he said.

Early Diagnosis Can Improve Outcomes

Dr. Bhardwaj stressed that many neurological disorders progress silently, making early diagnosis critical.

"Whether it is stroke, epilepsy, Parkinson's disease or memory disorders, early diagnosis can significantly improve outcomes. Unfortunately, many patients seek specialist care only after the disease has advanced, either because symptoms are ignored or because neurological services are not easily accessible. Greater public awareness and timely referrals are essential," he said.

Brain Health Linked to Women's Reproductive Health

Experts also emphasized that brain health extends beyond cognition. Dr. Hrishikesh Pai, Consultant Gynecologist & IVF Specialist, Lilavati Hospital Mumbai and Fortis Hospitals Delhi & Chandigarh, said the brain plays a central role in regulating women's reproductive health.

"Brain health plays a critical role in women's reproductive health. The hypothalamus and pituitary gland in the brain regulate the hormonal signals that control menstruation, ovulation, and pregnancy," he said.

He added that chronic stress, neurological disorders, pituitary diseases and certain medications can disrupt hormonal balance, leading to irregular menstrual cycles, infertility and pregnancy-related complications.

As wildfire smoke continues to affect communities across North America and Europe, fertility experts are recommending people undergoing vitro fertilization (IVF) to pay attention to an overlooked factor before embryo implant: air quality.

A new study suggests that exposure to unhealthy levels of air pollution, particularly from wildfire smoke, could significantly reduce the chances of a successful pregnancy after IVF.

Researchers, therefore, recommend discussing the timing of embryo transfer with a fertility specialist when air quality deteriorates.

Wildfire Smoke May Interfere With Embryo Implantation

The study, published in the journal Human Fertility, indicates that air pollution may affect reproductive health.

Between June and July 2023, researchers from Northwell Fertility in New York examined 190 fresh and frozen embryo transfers, when smoke from massive Canadian wildfires caused hazardous air quality across the northeastern United States.

They then compared the rate of successful pregnancies based on the Air Quality Index (AQI) on the day of embryo transfer.

Clinical pregnancy rates were approximately 62% on days with good air quality and 65% on days with moderate air quality.

But when the AQI rose above 100, a level considered unhealthy for sensitive groups; the pregnancy rate dropped to just 27%.

Although only 11 embryo transfers took place on days with unhealthy air quality, the researchers say the findings raise concerns about whether temporary exposure to wildfire smoke could affect one of the most critical stages of IVF.

Also read: Miles Apart, But Planning A Family Together: The Fertility Reality Of Long-Distance Marriages In India

How Can Air Pollution Affect Fertility And IVF Success Chances?

IVF embryos are created and stored in strictly controlled laboratories, meaning they are protected from polluted air and other contaminants in the environment.

Instead of damaging the embryo, researchers believe that wildfire smoke can affect the woman's body by increasing inflammation and oxidative stress. This could create a less favourable environment for the embryo to implant in the uterus.

Air pollution contaminant, PM2.5, a fine particulate matter, is one of the main pollutants in wildfire smoke. It is minute enough to enter the lungs, bloodstream, and trigger inflammatory responses throughout the body.

Previous studies have already indicated that PM2.5 exposure could cause pregnancy complications and harm fertility.

Dr. Randi Goldman, Program Director at Northwell Fertility and co-author of the study, said the research suggests patients and physicians should consider environmental conditions when planning embryo transfer.

Also read: Global Female Infertility Could Affect 80 Million Women Aged 35+ by 2036: Lancet Study

"The embryo is safely protected inside the laboratory. The effect we're seeing is more likely related to how air pollution influences the body before and after embryo transfer rather than the embryo itself," Goldman said.

She opines that patients experiencing severe wildfire smoke or hazardous air quality should discuss whether delaying embryo transfer by a few days could improve the chances of success.

"Patients invest enormous emotional, physical and financial resources into IVF. Delaying treatment is difficult, but when air quality reaches unhealthy levels, it may be worth discussing timing with your fertility specialist," Goldman said.

Expert-Recommended Tips To Improve IVF Success

Adopt a Fertility-Boosting Lifestyle: Eat a balanced diet, exercise daily, and enjoy a healthy BMI. Reduce alcohol intake, do not smoke, and avoid recreational drugs.

Take Key Supplements: Folic acid, CoQ10, and vitamin D can improve egg quality and overall fertility.

Stress Management Is Key: Elevated cortisol levels can affect reproductive hormones. Practice mindfulness, yoga, or acupuncture.

Sleep Well: Aim for at least 7–8 hours of restful sleep to support hormonal balance.

Address Underlying Health Conditions: Conditions such as PCOS, thyroid issues, and endometriosis can interfere with fertility outcomes if left unmanaged.

Start Early, If Possible: The earlier IVF is initiated—especially for women over 35—the better the chances.