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.”

Alzheimer’s disease and dementia are often viewed as diseases of old age, with memory loss considered one of their most recognizable symptoms. However, emerging research increasingly points to factors such as diabetes, blood pressure, hormonal changes and lifestyle during midlife, particularly from the 40s onward, that may influence the risk of cognitive decline later in life.

As ageing populations worldwide face a growing dementia burden, doctors are emphasizing the importance of identifying and addressing these risks in midlife. Alzheimer’s disease is a progressive brain disorder that affects memory, thinking and the ability to manage everyday life.

HealthandMe spoke to doctors about the disproportionate burden of Alzheimer’s among women, the link between diabetes and accelerated brain ageing, and how disease-modifying treatments such as lecanemab are changing the treatment landscape. They also highlighted the importance of early assessment to identify cognitive problems that families may otherwise dismiss as normal ageing.

Diabetes And The Ageing Brain: The Quiet Connection

Also read: Alzheimer's Day: Why Can A Patient Remember An Event From Decades Ago But Forget What Happened This Morning?

Type 2 diabetes is an important modifiable factor associated with accelerated brain ageing, making cognitive health an important part of diabetes care.

Dr. V. Mohan, Managing Director, Dr Mohan’s Diabetes Specialities Centre and President, Madras Diabetes Research Foundation, told HealthandMe that every diabetes appointment follows a familiar rhythm: check blood sugar, examine the feet, check the eyes, review the heart and kidneys, and renew the prescription. But the brain, more often than not, receives little attention.

Research suggests that type 2 diabetes is associated with accelerated brain ageing, while vascular damage linked to high blood sugar, blood pressure and cholesterol can affect the brain as well as the heart, kidneys and eyes.

The 2024 Lancet Commission on dementia prevention, intervention and care identified diabetes as one of 14 modifiable risk factors associated with nearly half of dementia cases worldwide.

“The message is simple: just as people routinely check their blood pressure, blood sugar, eyes, feet and kidneys, cognitive health deserves attention too,” he said, while suggesting ABCD for Protecting Brain Health in Diabetes:

A – Aim for HbA1c Control

B – Blood Pressure Control

C – Control Cholesterol

D – Diet Management

Why Menopause Matters For Women’s Brain Health

Read More: Hormone Replacement Therapy May Lower Dementia Risk In Women, Shows Study

Women carry a disproportionate burden of Alzheimer’s disease. According to Stanford, roughly three women are diagnosed with Alzheimer’s for every two men, while data from the Framingham Heart Study cited by the

Alzheimer’s Association estimated that at age 45, the lifetime risk of developing clinical Alzheimer’s dementia was about 20% for women compared with 10% for men.

Dr. Anmol Singh Rai, Consultant Neurology, Fortis Hospital Jalandhar, pointed out several factors that may contribute to this difference. He noted:

• APOE4 is one important factor. In women, the gene variant has been associated with a greater increase in dementia risk than in men.
• Age is another major factor, with dementia risk rising sharply in older age groups. Since women generally live longer, more women reach the ages when dementia becomes increasingly common.
• Hormonal changes may also play a role. Declining estrogen during menopause can affect brain metabolism and neuronal health, making the menopausal transition an important period for paying attention to cognitive and overall health.

“Managing blood pressure, blood sugar and cholesterol, addressing hearing loss, identifying sleep apnea, staying physically active and addressing depression and social isolation can all form part of a broader approach to brain health,” he told HealthandMe.

Alzheimer’s: Why Early Detection Matters As Treatment Advances

More than 55 million people worldwide live with dementia today, with a new case developing every three seconds. This number is projected to rise to 139 million by 2050.

With the arrival of disease-modifying treatments such as Leqembi (lecanemab), the importance of identifying cognitive decline early has become even greater.

"For three decades, Alzheimer's treatment has leaned on drugs that modestly improve cognition, function and behavior, buying patients and caregivers meaningful time. But none of them alter the underlying biology of the disease," Dr. Praveen Gupta, Chairman, Marengo Asia International Institute for Neuro and Spine (MAIINS), Marengo Asia Hospitals, Gurugram, told HealthandMe.

The disease-modifying therapy for Alzheimer’s, Leqembi, was cleared in the US in 2023, followed by Japan the same year, China in June 2024, the European Union in 2025, and India in August 2026.

"Unlike everything that came before it, lecanemab is designed to act on the pathological process itself, not merely its downstream consequences," Dr. Praveen Gupta said.

However, the treatment is not meant for everyone with Alzheimer’s. It is approved for early Alzheimer’s disease, including mild cognitive impairment and mild dementia, rather than moderate or advanced disease.

That makes timely diagnosis particularly important.

"Patient selection now hinges on confirming amyloid pathology, through cerebrospinal fluid analysis or blood-based biomarkers, before treatment even begins," Dr. Praveen Gupta explained.

Brain Health Should Begin Before Memory Loss

The experts noted that brain health is not something that needs attention only after memory loss begins.

Midlife is an important window to control blood pressure, blood sugar and cholesterol, remain physically active, address hearing and sleep problems, and pay attention to changes in memory or thinking.

For people already showing cognitive symptoms, early medical assessment can help distinguish normal ageing from mild cognitive impairment, dementia or potentially treatable conditions.

Cardiac arrest is considered one of the most urgent medical situations. It can occur unpredictably, at home, at work, while traveling, or anywhere. It is characterized by a blockage in the heart's arteries, and it differs from a heart attack, which is a situation when the heart stops pumping blood into the body. After a few minutes, oxygen deficiency happens and affects the brain and other organs. Therefore, it is important to know how to perform cardiopulmonary resuscitation (CPR).

CPR is an emergency lifesaving technique that uses chest compressions and, in some situations, blowing mouth-to-mouth air into the person who has suffered a cardiac arrest, to help maintain blood circulation and oxygen delivery to vital organs when a person's heart has stopped beating effectively. It does not restart the heart by itself, but it can keep blood flowing until an automated external defibrillator (AED) is available or emergency medical professionals arrive.

Importantly, CPR is not a skill limited to doctors or healthcare professionals. It can be administered by ordinary people for whom learning the basic CPR techniques is easy.

The Importance of Rapid and Efficient Actions in Case of Cardiac Arrest

If someone faces cardiac arrest, rapid actions may save this person's life. If CPR is performed directly and immediately after a cardiac arrest, it will be possible to keep the flow of blood to the brain and other organs before the arrival of medical experts. The use of CPR can improve the chances of survival for patients who have experienced cardiac arrest.

Besides, in combination with early defibrillation through an AED, it can be even more effective. AED is a portable medical device that checks the heart rhythm of the person experiencing cardiac arrest and delivers an electric shock to restart a normal heartbeat.

However, sometimes people prefer to do nothing for fear of mistakes. But it is much more dangerous not to act at all.

Recognizing Cardiac Arrest

It begins with identifying the presence of a possible cardiac arrest in the patient. The patient will generally fall, become unconscious, and will not breathe properly. They can occasionally breathe abnormally with strange sounds, which should not be considered breathing properly.

If you see anyone fall and become unresponsive, check whether they respond to your questions and breathe normally. Tell any passerby to call the emergency services and bring an AED device, if one is present. If the patient is not breathing normally, initiate CPR on them.

What To Do?

If the patient is an adult, hands-only CPR can be done easily by everyone. For this, you need to keep the heel of one of your hands in the center of the person’s chest, keep your other hand over it, and press down with a rapid rhythm. The compression must be continued at a pace of around 100-120 beats per minute.

Also, you can use the AED device if one is available. Turn on the AED and follow the steps according to the voice prompts from it. The AED device will analyze the rhythm of the heart and give a shock.

CPR is a Practical Skill, not Just Medical Knowledge

Another reason for reluctance to administer CPR is the notion that it should be administered only by doctors, nurses, and other professionals. However, even basic CPR can be taught to regular citizens using special courses. It takes only a couple of hours of practice for someone to gain enough confidence to use CPR in emergencies.

CPR training should be more accessible in schools, offices, and residential communities, as it would help people know what to do in those critical first few minutes.

Cardiac arrest will not wait for doctors to show up. When cardiac arrest occurs, the first person on the scene might be either a relative, co-worker, friend, or a total stranger. Knowing CPR will prepare you for these moments of life or death. A simple skill learned today may help save someone’s life tomorrow.

(Dr. Lalit Kapoor, Senior Consultant - Cardiac Surgery and Robotic Surgery – Narayana RN Tagore Hospital, Mukundapur, Kolkata)

Worried about your graying hair? It may reflect a natural cellular response to DNA damage, according to a study by Japanese researchers.

Hair color comes from melanocyte stem cells (McSCs), which live inside hair follicles and produce melanin, the pigment responsible for hair and skin color. These cells are especially sensitive to DNA damage from environmental and internal factors.

While DNA damage is linked to both aging and cancer, researchers at the University of Tokyo found that McSCs can take different paths after being damaged — including one that leads to hair graying and another associated with melanoma, a type of skin cancer.

How Does Gray Hair Act As A Defense?

When McSCs suffer certain types of DNA damage, they can undergo a process called senescence-coupled differentiation, or seno-differentiation. The damaged stem cells permanently differentiate and are eventually lost, leading to hair graying.

This response is driven by the p53–p21 pathway and may help eliminate damaged cells before they can become cancerous.

Also read: Unusually High Cancer-Fighting Immune Cells Could Explain Why Some People Live Beyond 100: Study

What Did The Study Find?

Published in Nature Cell Biology, the study examined how McSCs respond to different types of DNA damage.

Professor Emi Nishimura and Assistant Professor Yasuaki Mohri used long-term in vivo lineage tracing and gene-expression profiling in mice to study the fate of these stem cells.

The researchers found that DNA double-strand breaks triggered seno-differentiation. In this process, damaged McSCs irreversibly differentiate and are lost, resulting in hair graying.

However, the response was different when the cells were exposed to certain carcinogens, including 7,12-dimethylbenz(a)anthracene, or ultraviolet B. In these situations, McSCs could bypass the protective differentiation process, retain their ability to self-renew and expand clonally.

This process was supported by KIT ligand signals from the surrounding tissue and epidermis, which suppressed seno-differentiation and pushed the cells toward a tumor-prone state.

“These findings reveal that the same stem cell population can follow antagonistic fates—exhaustion or expansion—depending on the type of stress and microenvironmental signals,” Nishimura said.

“It reframes hair graying and melanoma not as unrelated events, but as divergent outcomes of stem cell stress responses,” she added.

Does Gray Hair Prevent Cancer?

Read More: Ferritin Face: Can Pale Skin Signal Iron Deficiency?

Not necessarily. The study does not show that people with gray hair have a lower risk of cancer.

Instead, the findings suggest that hair graying can be the result of a protective cellular response in which damaged stem cells are eliminated. When that response is bypassed, damaged McSCs may persist and contribute to melanoma development.

The researchers say the findings offer a framework for understanding how the same stem-cell population can contribute to either tissue aging or cancer depending on the type of damage and signals from the surrounding environment.

Can You Prevent Premature Graying?

Genetics plays a major role in when hair turns gray. There are also some lifestyle changes that can prevent graying, support hair and overall health. These include:

• Managing stress
• Eating a nutrient-rich diet
• Protecting your hair and scalp from excessive UV exposure
• Avoiding excessive heat and harsh chemical treatments
• Avoiding smoking.