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.”

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.

An Alzheimer’s patient may vividly remember their wedding day from 40 years ago, remember the house they grew up in or sing a song they learned in childhood, but still struggle to remember what they ate for breakfast or a question they were asked just an hour ago.

So if Alzheimer’s is a memory loss disease, why do some old memories appear to remain intact while recent ones disappear so quickly?

According to leading experts, the answer lies in the way different memories are formed, stored and retrieved in the brain. It is also in the fact that Alzheimer’s does not damage every memory system at the same speed. This means that the ability to form and retain new memories can become impaired before older memories are affected.

“In Alzheimer’s, memory loss does not always happen evenly. The brain regions responsible for forming and storing new memories, particularly the hippocampus and surrounding areas, are often affected early,” Dr K K Jindal, Director, Neurology, CK Birla Hospital, Delhi, told HealthandMe.

Recent Memories Disappear First

A person with Alzheimer's disease may remember a marriage, childhood home or an event from 40 years ago, but not remember a meal or conversation from an hour earlier. To understand this, it helps to look at what happens when a new memory is formed.

Dr Praveen Gupta, Chairman, Marengo Asia International Institute for Neuro and Spine, Marengo Asia Hospitals, Gurugram, told HealthandMe, “The memories that Alzheimer’s erodes do not deteriorate at equal rates. One of the first brain functions to be compromised is the creation of new memories. This is because the older memories have enough time to spread their representations in the brain while the newer memories rely on memory circuitry that is very vulnerable.”

Dr Saurav Aggarwal, Consultant, Neurology, Fortis Hospital, Ludhiana, explained the process to HealthandMe through the concept of memory consolidation. He said when a person experiences something new, the memory initially depends heavily on the hippocampal network.

Dr Aggarwal said, “Old memories go through consolidation, where the brain spreads a memory across the cortex, its outer layer, including the temporal and frontal lobes. Years of retelling strengthen those links.”

By contrast, new memories remain heavily dependent on the hippocampal network. “Alzheimer's damages the hippocampus first, so the brain fails to consolidate new information, such as a memory from the morning or a few hours ago, causing it to fade” Dr Aggarwal says.

Older memories have therefore had years, sometimes decades, to become more represented and strengthened through repetition and recall. New memories do not have that advantage.

Also read: Donald Trump Wants Childhood Vaccines Split Into 5 Shots To Prevent Autism: But Is There Evidence?

The Hippocampus Is More Than The Brain's Memory Bank

The hippocampus is not just a storage box for memories. It plays a crucial role in organising and absorbing new experiences. Dr Aggarwal describes it as a “sorting desk”.

He says, “The hippocampus works like a sorting desk. It takes in new experiences, a step called encoding, and passes them to the cortex for storage, meaning that proper memories cannot be formed if the hippocampus is damaged.”

The hippocampus is particularly vulnerable in Alzheimer’s disease. According to Dr Aggarwal, two abnormal proteins are central to the disease process.

“Two abnormal proteins drive this damage. Amyloid forms plaques between neurons, and tau twists into tangles inside them,” Dr Aggarwal says. “Tangles appear first in the entorhinal cortex, the hippocampus's gateway. They spread inward and, with amyloid plaques, damage the connections between neurons (synapses).”

Dr Steve Paul Manjaly, Geriatric Medicine, Apollo Hospitals, Bangalore, told HealthandMe that the hippocampus has a high level of synaptic transmission, which makes it particularly vulnerable to toxic processes linked with Alzheimer’s disease.

He explains, “The hippocampus is the seat of memory and has high synaptic transmissions, making it prone to toxicity,” he says. “Also the pathology is such that the affect the networking pathways that affect the hippocampus majorly.”

Also read: World Patient Safety Day: With 2800% Margin, Costly Hospital Consumables Can Threaten Patient Safety; Here’s How

All Memories Are Different

One important misconception about Alzheimer’s is that there is one single type of memory that simply gets weaker over time. In reality, the brain uses several memory systems, and they can be affected at different stages.

“There is no single memory system; the three different types of memory systems are episodic memory, semantic memory, and procedural memory,” says Dr Gupta.

Episodic memory refers to personal experiences. For example, what happened yesterday, where a person went, or what they discussed during a particular conversation. This is affected earlier.

Semantic memory involves facts, information, words and their meanings. “Semantic memory is about names. E.g Delhi is the capital of India. This is affected much later in Alz,” Dr Manjaly explains.

Procedural memory is the memory of how to perform learned skills. “Procedural memory is about how something was learned. E. G driving a cycle etc. This is affected later in the disease,” he says. This is why someone with Alzheimer’s may forget what they had for lunch but still be able to tie their shoelaces or perform a familiar skill.

Also read: Scientists Grow Human Brain Tissue Inside Mice: Could This Help Cerebral Palsy, Epilepsy & Autism Research?

Why Can A Patient Sing An Old Song But Forget A Person's Name?

One of the most striking and fascinating examples of preserved memory in Alzheimer’s is music. Families of people with dementia often notice that a loved one who struggles to remember names or recent conversations may still be able to sing an old song almost perfectly.

Songs are encoded through more than their words. Rhythm, melody, repetition, emotion and long-established associations all contribute to how they are represented in the brain.

“The various types of memories involve different neural networks,” says Dr Gupta. “Songs we know are not just about words; songs have associations with rhythm, emotions, repetition, and neural links that have been created since ages.”

Dr Aggarwal notes that procedural skills involve structures such as the basal ganglia and cerebellum, which tend to be affected later in Alzheimer’s disease.

Musical processing also involves several networks beyond the hippocampus, some of which may remain relatively preserved. This helps explain why familiar routines, songs and well-practised skills can sometimes survive long after the ability to form new memories has deteriorated.

Also read: 1 In 4 Doctors Near Retirement Age By 2036: WHO Warns Of Global Health Workforce Crisis

When Is Forgetfulness More Than Normal Ageing?

Forgetting sometimes is not, by itself, evidence of Alzheimer’s disease. With normal ageing, people may take longer to retrieve a name, need more time to learn something new or occasionally forget something, and remember it later. The more important warning signs are progression, frequency and impact on everyday functioning.

Dr. Gupta explains, “What matters most is not that they are forgetting but the frequency with which it occurs, that it is becoming progressively more problematic, and that it starts to interfere with daily functioning.”

According to the experts, warning signs may include:

• Repeatedly asking the same question within a short period
• Forgetting conversations or events that happened recently
• Getting disoriented in familiar places
• Misplacing objects and not being able to retrace one's steps
• Struggling with familiar recipes
• Having difficulty managing finances or medications
• Developing problems with words or understanding conversations
• Showing poorer judgement or decision-making
• Becoming increasingly dependent on family members for tasks previously handled independently

How Do Doctors Determine Whether Memory Loss Is Due To Alzheimer’s?

According to the doctors, Alzheimer’s diagnosis begins with a detailed history, including when the symptoms started, how they have progressed and how they affect daily functioning.

Information from family members can be particularly important because a person experiencing memory impairment may not recognise the extent of the changes.

“Now, the diagnosis of Alzheimer's is not just about memory tests,” says Dr Gupta. “We utilize a comprehensive assessment along with high-tech investigation methods like serum markers and PET scanning to find out the presence of biological markers of Alzheimer's disease.”

Besides memory loss, several medical conditions can produce symptoms that resemble dementia. Vitamin B12 deficiency and thyroid disorders can contribute to cognitive problems and need to be considered.

Experts say that blood tests can help identify such reversible contributors, while an MRI can look for strokes and patterns of brain shrinkage.

“MRI scans and pet scans can help narrow it down further and help sometimes in ruling out other causes of cognitive impairment,” Dr Manjaly says. “Thyroid and vitamin b12 deficiencies are also conditions that may mimic dementia.”

Modern diagnosis can also go beyond symptoms and structural imaging. Dr Aggarwal says amyloid PET imaging and cerebrospinal fluid testing can provide additional evidence of Alzheimer’s pathology by detecting abnormal protein changes associated with the disease. The exact combination of tests depends on the individual patient and overall clinical situation.