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.”

Breast cancer is the most common cancer among women in India. According to various estimates, it accounts for about 26% of all cancers diagnosed among women, with nearly 2,00,000 new cases estimated in India each year.

Family history is not the only risk

Family history is an important risk factor, as some women inherit genetic changes that can increase their risk of developing breast cancer. Hereditary breast cancers can result from inherited genetic susceptibility, including mutations in high- or moderate-penetrance genes. BRCA1 and BRCA2 are among the best-known genes associated with hereditary breast cancer. Therefore, knowing family history is important.

But the absence of a family history does not mean that women are free from risk. In fact, around 80-85% of breast cancer cases occur in women with no known family history. These are generally referred to as sporadic cases.

The risk factors

Breast cancer risk factors can broadly be divided into those that cannot be changed and those that can potentially be modified.

Among the non-modifiable factors are age and certain reproductive and hormonal factors. Longer lifetime exposure to hormones such as oestrogen and progesterone can increase breast cancer risk. Early menstruation, later menopause and having a first pregnancy at a later age are some factors associated with longer hormonal exposure.

Potentially modifiable risk factors are largely lifestyle-related and include alcohol consumption, physical inactivity, excess body weight (particularly after menopause) and tobacco exposure. Maintaining a healthy weight, staying physically active, avoiding tobacco and limiting alcohol can help reduce the risk.

Also read: Amanda Peet’s Breast Cancer Wasn’t A Lump: What Was Her First Sign?

Five signs that should never be ignored

The five important warning signs include:

• A new, hard lump in the breast or armpit, particularly if it is increasing in size.
• A change in the size or shape of one breast, especially when it creates a new difference in breast symmetry.
• Unusual nipple discharge, particularly spontaneous discharge that is clear or bloody.
• Changes involving the nipple, such as a newly inverted nipple.
• Changes in the breast skin, including thickening, dimpling, puckering or a change in its appearance or texture.

These signs do not automatically mean cancer. But they should not be ignored.

Also read: Mammogram May Spot Hidden Heart Risk That Doctors Miss In Women

Get checked if you notice a change

If you notice any of these signs, particularly a new or persistent change in your breast, do not ignore it or try to diagnose it yourself. Seek medical evaluation promptly. A doctor will assess the breast and, if necessary, recommend what is known as a triple assessment: a clinical examination, breast imaging such as ultrasound or mammography, and tissue diagnosis when required. In selected cases, an MRI may also be recommended.

Tissue sampling may involve Fine Needle Aspiration Cytology or a core/true-cut biopsy. Together, these assessments help determine whether a breast abnormality is benign or malignant. It is important to distinguish this from screening. Screening is done in women who do not have symptoms, with the aim of detecting breast cancer at an early stage. When a woman has a symptom or notices a new breast change, she needs diagnostic evaluation rather than simply screening.

Don't panic: most breast lumps are benign

Finding a lump can understandably cause anxiety. However, most breast lumps, particularly in younger women, are benign. Common causes include fibroadenomas, breast cysts and fibrocystic changes.

Fibrocystic changes are often influenced by hormonal fluctuations. A lump may become more prominent or painful one to two weeks before menstruation and become smaller or less uncomfortable after the period. Some women may also experience a feeling of heaviness or tenderness in the breast.

An injury to the breast can also result in tissue damage and inflammation, producing a lump-like area. Therefore, a lump should not be assumed to be cancer, but neither should it be dismissed without appropriate evaluation.

Early detection can make a significant difference in the successful management of breast cancer. Women should remember that having no family history does not mean they are not at risk. At the same time, a breast lump or other change does not necessarily indicate cancer. The key is to know your own breasts, be aware of the warning signs and seek timely medical evaluation whenever a new or persistent change is noticed.

By Dr Megha B - Surgical Oncologist in Trichy - Breast, GI & Cancer Surgery Specialist, Kauvery Hospital

ADHD may be less about an inability to pay attention and more about difficulties sustaining engagement with tasks, according to a US psychiatrist who has questioned whether the condition's name adequately captures its symptoms.

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition that affects attention, executive function, impulse control, and activity levels. It typically begins in childhood, with symptoms appearing before age 12, and frequently persists into adulthood.

What Are The Symptoms Of ADHD?

According to the National Institute of Mental Health, ADHD symptoms fall into two primary categories:

Inattention: Difficulty sustaining focus, missing details, making careless mistakes, forgetfulness in daily routines, and struggling to stay organized.

Hyperactivity and impulsivity: Fidgeting, excessive talking, restlessness (including internal restlessness in adults), interrupting others, and acting without thinking.

However, Dr. Awais Aftab, a psychiatrist in Cleveland, Ohio, and clinical associate professor of psychiatry at Case Western Reserve University, has questioned whether the term “attention deficit” adequately captures the condition.

“The condition’s name notwithstanding, ‘attention deficit’ may be the wrong conceptual framing for ADHD,” he wrote in an article in The New York Times.

Also read: ADHD: Your Pupils May Explain How The Brain Handles Attention, Says New Indian Study

ADHD May Be More About Sustained Engagement

Aftab argued that ADHD may involve difficulties with the brain's ability to assign importance to a task and sustain the effort needed to complete it, rather than simply an inability to filter out distractions.

People with ADHD can often concentrate on activities that interest them. The difficulty may arise when they need to maintain attention and effort over time, particularly when tasks are repetitive or offer little immediate reward.

“If attention is about the mind homing in on what’s relevant in a given moment, engagement is about keeping that spotlight pointed at the same target over time,” Aftab wrote.

His argument offers a different way of thinking about some of the everyday challenges associated with ADHD, including starting tasks, staying organized, and following through on activities that require sustained mental effort.

What Do ADHD Medications Do?

ADHD is often treated with stimulant medications, such as Adderall, which can help reduce symptoms and improve attention and impulse control.

Aftab argued that the effects of these medications may extend beyond attention itself.

“Stimulants create what looks like improved attention and focus, but they really do so by enhancing the salience of mundane activities – tricking the brain into assigning greater worth and significance to things like math homework and laundry,” he said.

Citing a study published in Cell that examined the effects of stimulants on the brain, Aftab suggested that the medications' effects on brain networks could support a broader understanding of ADHD. However, findings about how stimulants affect the brain do not, by themselves, establish that ADHD is primarily a problem of motivation or task engagement rather than attention.

Aftab also suggested that some patients may rely on medication to keep up with lifestyles that are not suited to their needs. This raises broader questions about how treatment, daily demands, and individual needs intersect, rather than suggesting that medication is unnecessary.

He also emphasized evidence linking ADHD medication use with lower risks of adverse outcomes, including death, self-harm, transport accidents, criminality, and addiction-related problems.

Joint pain in your 30s and 40s can stem from sports injuries, obesity, a sedentary lifestyle, muscle weakness, or repetitive strain. It can also signal arthritis, including rheumatoid arthritis and osteoarthritis, which can affect younger adults.

On World Arthritis Day, experts warned that joint pain that persists, keeps returning, or occurs with swelling, prolonged morning stiffness, or restricted movement should not be ignored. Sudden, severe pain in a hot, swollen joint—especially with fever—requires urgent medical evaluation.

Dr. Atul Shrivastava, Consultant, Orthopedics and Joint Replacement Surgery, Narayana Hospital, Howrah, told HealthandMe that chronic joint pain should not be dismissed as fatigue or the result of a sedentary lifestyle.

“Prolonged sitting, a sedentary lifestyle, weakened muscle tone, and sudden leaps in physical activity can all contribute to musculoskeletal pain without necessarily indicating the presence of arthritis.”

Dr. Rakesh Rajput, Head of Orthopedics, CK Birla Hospitals, CMRI, Kolkata, said, “Sedentary lifestyles, obesity, poor posture, sports injuries, nutritional deficiencies, and repetitive strain from daily activities can contribute to joint problems.”

Morning Stiffness Or Arthritis? Signs To Watch For

Also read: From Better Sleep To Stronger Bones: Here’s How Magnesium Can Help Boost Your Health

Occasional stiffness after waking up or sitting for long periods may result from inactivity or muscle strain. However, recurring morning stiffness accompanied by swelling, tenderness, or restricted movement warrants medical attention.

“Occasional stiffness after waking up or remaining in one position for a long time may result from inactivity or muscle and joint strain. However, recurring morning stiffness, especially when accompanied by joint swelling, tenderness or restricted movement, deserves attention,” Dr. Shrivastava said.

Morning stiffness lasting 30–60 minutes or longer may be associated with inflammatory conditions such as rheumatoid arthritis. Osteoarthritis can also cause stiffness after rest, which often improves with gentle movement. However, these patterns alone cannot confirm a diagnosis.

Other warning signs include:

• Persistent joint swelling or warmth
• Difficulty performing routine activities
• Pain or stiffness affecting multiple joints
• Reduced joint movement or persistent tenderness

Rheumatoid arthritis can affect the same joints on both sides of the body, particularly the hands and wrists, although symptoms vary. Persistent symptoms warrant medical assessment rather than reliance on painkillers or home remedies.

A suddenly hot, swollen, and severely painful joint, particularly when accompanied by fever, requires urgent medical evaluation to rule out a serious condition such as a joint infection.

Knee Pain In Your 30s And 40s: What's Behind It?

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Knee pain can result from sports injuries, ligament or meniscal problems, kneecap-related conditions, muscle weakness, overuse, or early osteoarthritis.

Dr. Shrivastava said, “Knee pain in the 30s and 40s can have several causes, and arthritis is only one possibility. Pain may arise from sports injuries, meniscal or ligament problems, kneecap-related conditions, muscle weakness, overuse or early osteoarthritis. Identifying the cause is essential because treatment differs depending on the underlying problem.”

Excess body weight increases stress on the knees, while weak supporting muscles and sudden increases in exercise intensity can aggravate symptoms. However, appropriately selected, progressive exercise can improve muscle strength and joint function.

Persistent pain, recurrent swelling, locking, or instability should be assessed by an orthopedic specialist. Sudden severe pain, an inability to bear weight, or a hot, swollen knee requires prompt medical attention.

Treatment depends on the underlying cause and may include physical therapy, activity modification, weight management, and medication when appropriate.

Can You Prevent Joint Problems?

Maintaining a healthy weight, strengthening the muscles that support the joints, staying physically active, and preventing injuries can help maintain joint health. Gradually increasing exercise intensity and avoiding prolonged inactivity may also help reduce strain on the joints.

Not all forms of arthritis are preventable. Persistent pain, swelling, or stiffness should prompt medical evaluation rather than self-diagnosis.