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.”

Do you know that congenital hypothyroidism, a rare disability, affects about 1 in 2,500–3,000 newborns globally, but in India, the incidence is higher -- approximately 1 in 1,000 births.

India records nearly 26 million births annually, with an estimated 10,000 babies born each year with Congenital Hypothyroidism.

This means 27 babies are born every day in India, with the condition that more than one is born every hour. Early treatment within the first 2 weeks of life can ensure normal brain development, while delayed treatment can reduce IQ by 30–50 points.

Congenital Hypothyroidism (CH) is a condition present at birth in which a baby’s thyroid gland does not produce enough thyroid hormone.

The thyroid is a small gland located in the neck. It produces a hormone called thyroxine (T4), which is essential for brain development, growth, and overall body metabolism. The thyroid hormone is especially important in the first few weeks of life.

The thyroid hormone helps in:

• Brain development
• Physical growth
• Bone development
• Muscle strength
• Energy regulation

If a baby does not receive enough thyroid hormones soon after birth, it can lead to permanent intellectual disability and growth problems.

The good news is that congenital hypothyroidism is easily detectable and completely treatable if identified early.

What Causes Congenital Hypothyroidism? What Are The Symptoms?

Congenital Hypothyroidism may occur because:

• The thyroid gland is completely absent
• The thyroid gland is underdeveloped
• The gland is present but does not function properly
• Rarely, the baby cannot produce or use the thyroid hormone correctly

One of the biggest challenges with Congenital Hypothyroidism is that most babies look completely normal at birth.

However, over time, some signs may appear:

• Excessive sleepiness
• Poor feeding
• Constipation
• Prolonged jaundice (yellowing of skin and eyes)
• Hoarse cry
• Large tongue
• Puffy face
• Cold or dry skin
• Slow growth

How Is Congenital Hypothyroidism Detected?

1. Newborn Screening Test (Heel-Prick Test)

• This is the most important test.
• A few drops of blood are taken from the baby’s heel.
• It is usually done 48–72 hours after birth, but can be done soon after birth on the cord blood, too.
• Test measures Thyroid Stimulating Hormone (TSH).
• If TSH levels are high, it suggests that the thyroid is not functioning properly.
• This test is simple, safe, quick, and affordable

2. Confirmatory Blood Tests

If the screening test is abnormal, the doctor will order:

• Serum TSH test
• Free T4 (thyroxine) level
• High TSH and low T4 confirm the diagnosis

3. Thyroid Scan

In some cases, imaging tests are needed. The ultrasound of the neck (less accurate) and Nuclear Medicine Thyroid scan (more accurate) may be done to check whether the gland is absent, small, or misplaced. However, treatment should not be delayed while waiting for imaging.

When Should Treatment Start?

Treatment should begin as early as possible -- ideally within the first 14 days of life. Starting treatment within the first two weeks allows normal brain development.

Delaying treatment increases the risk of permanent intellectual disability.

Doctors will monitor:

• TSH levels
• T4 levels
• Baby’s growth and development

Initially, blood tests are done every 2–4 weeks, then less frequently as the child grows. Proper follow-up ensures the dose remains correct. Some babies may need treatment for life.

In certain cases, doctors may reassess thyroid function after 3 years of age to see whether the condition is temporary or permanent. Most children who receive early and proper treatment grow up with completely normal intelligence and physical development.

Can Congenital Hypothyroidism Be Prevented? Why Early Screening Is So Important

Most cases cannot be prevented. However:

• Universal newborn screening can prevent intellectual disability
• Ensuring adequate iodine intake during pregnancy helps reduce risk
• The key is early detection—not prevention

A baby with Congenital Hypothyroidism may look perfectly healthy. Without screening, diagnosis may be delayed until symptoms appear—by then, brain development may already be affected.

With early testing the diagnosis is simple; treatment is affordable; and outcome is excellent. But without testing:

• Intellectual disability can occur
• Growth may be affected
• The child may require lifelong support

Congenital Hypothyroidism is one of the most preventable causes of intellectual disability in children. A small heel-prick test in the first few days of life can protect your baby’s brain forever.

If you are expecting a baby or have a newborn, speak to your doctor about newborn thyroid screening.

Early diagnosis. Simple treatment. Normal life.

Prime Minister Narendra Modi today launched the nationwide Human Papillomavirus (HPV) vaccination campaign for girls aged 14 years from Rajasthan's Ajmer.

The initiative marks a decisive step towards eliminating cervical cancer through timely HPV vaccination. Cervical cancer remains the second most common cancer among women in India. Nearly 80,000 new cases and over 42,000 deaths are reported annually in the country.

"Today, I have had the opportunity to launch the HPV vaccine campaign from Ajmer. This campaign is an important step towards empowering women and daughters of this country,” PM Modi said.

“For us, this was a sensitive issue tied to the insult of our sisters and daughters, one that made them ill. That is why we resolved it at a crucial turning point in their mission,” he added.

The World Health Organization has also lauded India's mission to launch the HPV vaccine and prevent the risk of cervical cancer.

“We are leaving no stone unturned to ensure that the daughters of the country are healthy and prosperous. The objective of this initiative is the prevention of cervical cancer," the Prime Minister, earlier wrote in a post on social media platform X.

The HPV Vaccination Campaign

The nationwide program, based on expert recommendations of the National Technical Advisory Group on Immunization (NTAGI), will target girls aged 14 years.

At 14, the HPV vaccine offers maximum preventive benefit, well before potential exposure to the virus.

"By prioritizing prevention at the right age, the program is expected to provide lifelong protection and significantly reduce the future burden of cervical cancer in the country," the government said.

“The HPV vaccine works best at 9-14 years, before exposure, and when the immune response is strongest. Studies show effectiveness is highest in younger age groups and decreases with age,” Dr. Parmod Kumar, Associate Professor in Medical Oncology, AIIMS Jodhpur, shared on X.

Vaccination under the national program will be voluntary and free of cost.

The HPV vaccination will be conducted exclusively at designated government health facilities, including Ayushman Arogya Mandirs (Primary Health Centers), Community Health Centers, Sub-District and District Hospitals, and Government Medical Colleges.

Cervical Cancer Burden In South East Asia

Despite being preventable, cervical cancer continues to claim the life of a woman every two minutes globally, and the WHO South-East Asia Region bears nearly one-quarter of the global burden.

Dr. Catharina Boehme, Officer-in-Charge, WHO South-East Asia, stated that the introduction of HPV vaccination at a national scale in India "will have a far-reaching impact". It will accelerate progress not only for the country, but for the region and the world, she said.

“This landmark step, led at the highest level of government, reflects India’s strong commitment to protecting adolescent girls from cervical cancer," said Dr. Boehme.

With today’s milestone, nine of the 10 countries in the Region now include HPV vaccination in their national immunization programs.

The WHO global targets for 2030 include vaccinating 90 percent of girls by age 15, screening 70 percent of women by ages 35 and 45, and ensuring 90 percent of women with pre-cancer and invasive cancer receive appropriate treatment.

As we grow older, it is almost expected that memory will fade. Names slip. Dates blur. Thoughts take longer to form. Inside the aging brain, proteins can misfold and clump together, damaging cells and gradually eroding cognition. But not everyone follows this script.

Some people reach their 80s with memory and mental sharpness that rival those decades younger. Scientists call them “super-agers.” Now, new research published in Nature offers a possible explanation for why some brains hold up so remarkably well.

At the heart of the findings lies one of neuroscience’s most contested questions: can adult human brains grow new neurons?

Read: A Longevity Expert Who Studies 'Super Agers' Eats All THIS In A Day

Can The Aging Brain Grow New Cells?

For years, scientists have debated whether neurogenesis, the birth of new neurons, continues into adulthood. While it is well established in babies and young children, and in many animal species, evidence in adult humans has been mixed.

This new study adds weight to the idea that it does continue, even into advanced age.

Researchers examined brain tissue donated after death from several groups: younger adults with normal cognition, older adults with typical memory for their age, people with mild cognitive impairment, individuals with Alzheimer’s disease, and super-agers over 80 whose memory functioned like someone about 30 years younger.

They focused on the hippocampus, the brain’s memory hub and a region long suspected to be a birthplace for new neurons.

To detect neurogenesis, scientists looked for three types of cells: neural stem cells, neuroblasts, and immature neurons. In simple terms, stem cells are like infants, neuroblasts are adolescents, and immature neurons are on the brink of adulthood.

“We identified genetic markers for three key types of cells,” the researchers explained, tracing the pathway from stem cell to developing neuron.

What Makes Super-Agers Different

All groups showed signs of these cell types. The difference lay in the numbers.

Super-agers had roughly twice as many new neurons as older adults with typical memory, and about two and a half times more than those with Alzheimer’s disease. In fact, their hippocampi contained even more immature neurons than the brains of younger adults.

“This paper shows biological proof that the aging brain is plastic,” Tamar Gefen told The New York Times. She added that this adaptability appears to persist “even into a person’s 80s.”

The immature neurons in super-agers also carried distinctive genetic and epigenetic signatures. According to Gefen, as quoted by The New York Times, “Super-aging happens not only because there’s more of these young cells, but because there is a type of genetic programming” that allows them to survive and resist age-related decline.

In other words, it is not just about quantity. It may also be about resilience.

A Clue For Alzheimer’s Disease?

The Alzheimer’s findings were equally intriguing.

People with Alzheimer’s actually had more neural stem cells than other older adults. But they had far fewer neuroblasts and immature neurons. This suggests that while the starting material was present, the developmental process stalled.

One interpretation is that neurogenesis becomes disrupted in Alzheimer’s. Stem cells may remain dormant, unable to mature into functioning neurons.

“If that’s true, that’s really opened up a new direction for the field,” Hongjun Song told The New York Times, suggesting that reactivating these dormant cells could one day become a therapeutic strategy.

It is an exciting possibility. Instead of only trying to prevent damage, scientists might be able to encourage regeneration.

Not Everyone Is Convinced

The neurogenesis debate is far from settled.

Some researchers argue that methodological differences have led to conflicting conclusions over the years. Shawn Sorrells, who studies neurogenesis, told The New York Times that mapping how the hippocampus changes in people who age differently is “fantastically interesting and important,” but he cautioned that the findings should be validated using additional techniques.

Skepticism remains because detecting new neurons in adult human brains is technically difficult. Results often hinge on the markers and imaging tools used.

What This Means For The Future

Even if this study does not end the debate, it opens new doors. If certain people naturally maintain robust neurogenesis into their 80s, researchers want to understand why. Is it genetics? Lifestyle? A combination of both?

Scientists are now exploring whether the special properties seen in super-agers’ immature neurons can be replicated or supported through medication or other interventions.

The bigger takeaway is hopeful. Aging does not necessarily mean inevitable cognitive collapse. The brain may retain more capacity for renewal than once believed.

If neurogenesis truly persists across the lifespan, the story of brain aging may need rewriting. Instead of focusing only on decline, researchers may increasingly look toward regeneration and resilience.

And for anyone worried about forgetting where they left their keys, that possibility feels quietly revolutionary.