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.”

Many working women who are pregnant tend to dismiss signs such as headaches, swelling, or vision changes, thinking that they are common during pregnancy. However, these issues can be caused by preeclampsia, a serious condition that requires timely attention, especially among busy working women.

What is preeclampsia?

Dr Prachi Sarin Sethi, Senior Consultant – Obstetrician, Gynaecologist & Laparoscopic Surgeon, Motherhood Hospitals, Gurgaon, said, "Pregnancy comes with many physical changes, and it is common for women to experience discomfort such as swelling, fatigue, or headaches. However, sometimes these symptoms may point to something more serious, namely preeclampsia, a pregnancy-related condition that can affect both the mother and baby. Working women tend to ignore the signs of this condition and struggle in silence. Preeclampsia is a condition that usually develops after the 20th week of pregnancy. It is mainly characterised by high blood pressure and can affect organs such as the liver and kidneys. If not managed in time, it can lead to serious complications for both mother and baby."

What are the causes of preeclampsia?

The exact cause of preeclampsia is not known. Certain factors increase the risk, including:

1. High blood pressure before pregnancy
2. First pregnancy
3. Multiple pregnancies (twins or more)
4. Obesity or diabetes
5. High stress levels and lack of rest

What are the symptoms of preeclampsia?

Many symptoms of preeclampsia are mistaken for normal pregnancy changes. These include:

1. Persistent headaches
2. Swelling in the face, hands, or feet
3. Blurred vision or light sensitivity
4. Sudden weight gain
5. Pain in the upper abdomen

Consequences of untreated preeclampsia

Working women may ignore these signs due to work pressure, long hours, or frequent travel, assuming they are just tired or stressed. If left untreated, preeclampsia can lead to serious complications such as:

1. Preterm delivery
2. Low birth weight of the baby
3. Organ damage in the mother
4. Seizures (a severe condition called eclampsia)

Early detection and proper care can help manage the condition and reduce risks.

This is why working women miss the signs

In today’s fast-paced lifestyle, many women continue working through pregnancy without slowing down. Long working hours, stress, irregular meals, and lack of rest tend to worsen symptoms. Many women delay check-ups or ignore warning signs, thinking they are minor issues.

What can women do?

Report any signs and symptoms, such as headaches and vision changes, to a doctor. De-stress by practising yoga and meditation. Monitor blood pressure regularly, avoid overexertion, and maintain a balanced diet consisting of fresh fruits, vegetables, whole grains, and pulses. Avoid junk, oily, and canned foods. It is also necessary to stay hydrated, attend regular health check-ups, and follow-up appointments.

Osteoarthritis (OA), long considered a “wear-and-tear” disease of old age, is increasingly being diagnosed in people as young as 30, according to new research.

The review by researchers at Indraprastha Apollo Hospitals suggests OA should be viewed as a heterogeneous syndrome rather than a single disease. The condition is driven by a combination of biological, biomechanical, metabolic, genetic, and molecular factors, but in youth obesity and poor lifestyle is surging the cases.

“Osteoarthritis is no longer confined to the elderly — we are now seeing patients as young as 30, often driven by obesity and sedentary lifestyles. This research makes clear that osteoarthritis is not a single disease but a spectrum of conditions,” said Dr. (Prof.) Raju Vaishya, Senior Consultant Orthopaedic and Joint Replacement Surgeon, Indraprastha Apollo Hospitals.

Noting that a one-size-fits-all approach may not help, the expert stressed the need for personalized treatment that recognizes the specific phenotype in each patient.

Also read: Can Running Marathons Or Ultramarathons Raise Colon Cancer Risk? Study Sparks Concern

Six Disease Subtypes Identified

The review, published in International Orthopaedics, identifies six disease subtypes, including inflammatory, metabolic, and pain-sensitization variants. Researchers recommend MRI-based tools and biomarker panels to guide treatment decisions.

Emerging technologies such as AI-assisted MRI scoring and PET-MRI with 18F-NaF may also enable earlier detection and better patient classification, although wider clinical adoption will require standardized protocols and large-scale validation studies.

Osteoarthritis Burden Rising Worldwide

More than 500 million people worldwide live with osteoarthritis, accounting for 7.6 per cent of the global population. According to Global Burden of Disease estimates, prevalence has increased by 132 per cent over the past 30 years and is projected to rise by another 60 per cent by 2050.

Women, people with obesity, and those with previous joint injuries are disproportionately affected.

What Is Osteoarthritis And Its Symptoms?

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Osteoarthritis occurs when the cartilage that cushions the ends of bones gradually wears down, causing joints to become stiff, painful, and less mobile.

The disease commonly affects the knees, hips, and small joints of the hands, although it can occur in almost any joint.

Common symptoms include:

• Joint pain
• Joint stiffness
• Difficulty moving affected joints
• Swelling
• Joint tenderness
• A grating or crackling sensation during movement
• Pain and stiffness after periods of inactivity
• Enlarged or knobbly joints
• Reduced range of movement
• Muscle weakness or muscle loss

How To Prevent Osteoarthritis

Experts say maintaining a healthy weight, staying physically active, avoiding prolonged sedentary behaviour, and preventing joint injuries can help lower the risk of osteoarthritis.

One of the biggest challenges in osteoarthritis treatment is the “care gap.” Many patients are too young or not yet severe enough for surgery but may spend years relying on medications that relieve symptoms without addressing the underlying mechanics of joint stress.

Research suggest gait retraining — adjusting the way a person walks — could help bridge this gap. Unlike medication or surgery, gait retraining is non-invasive and may offer a sustainable long-term solution.

Currently, gait retraining often requires specialized tools such as motion-capture systems and pressure-sensitive treadmills. However, newer approaches, including smartphone-based video analysis and sensor-equipped “smart shoes,” are being developed to make the technique more accessible.

Experts caution against making major changes to walking patterns without professional guidance, as improper adjustments may place additional strain on other parts of the body.

After the COVID-19 pandemic, a large number of young adults returned to social life with unhealthy coping habits such as smoking, vaping, alcohol consumption, late-night eating, and excessive spicy or junk food intake. These are now causing a worrisome surge in cases of mouth cancer in people below 40. Youngsters fail to pay attention to the early warning signs, such as unhealed mouth ulcers, a burning sensation, white patches, difficulty swallowing, or persistent mouth pain, leading to delayed diagnosis. Hence, it is the need of the hour to seek timely treatment, which can save lives.

What is mouth cancer?

Mouth cancer, also known as oral cancer, refers to the abnormal growth of malignant cells in the gums, lips, tongue, or the inner lining of the cheeks and floor of the mouth. Early detection of this disease can help improve survival rates. The symptoms of mouth cancer are:

1. Sore or blister inside the mouth that lasts for two to three weeks
2. Bleeding
3. Numbness
4. Lump or swelling or thickening of the mouth, lip or neck
5. Persistent pain in the mouth
6. Persistent white or red patches in the mouth
7. Difficulty in swallowing or speaking

What are the risk factors for mouth cancer?

According to doctors, mouth cancer can happen to anyone. But there are some risk factors that can make you more prone to developing the tumour:

1. Smoking
2. Tobacco use or chewing tobacco
3. Using betel nut or paan
4. HPV
5. Frequent or heavy alcohol use
6. Excessive exposure to the sun
7. Poor oral hygiene

For timely detection, it is important to go for regular check-ups. If any of the symptoms appear, a biopsy can help with cancer detection.

Why are mouth cancer cases rising among people in their 40s?

Dr Prathamesh Pai, Senior Consultant Head and Neck Surgical Oncologist, Gleneagles Hospital, Parel, Mumbai, said, “There is a spike in cases of mouth cancer among younger individuals aged 25–40. The causes can be smoking, vaping, alcohol intake, poor dietary habits, and spicy junk food. Many youngsters believe mouth ulcers are common and harmless, but any ulcer that does not heal within two weeks should never be ignored. Early symptoms may include mouth pain, white or red patches, bleeding, difficulty chewing, bad breath, or swelling inside the mouth. Also, there is a lack of dental hygiene, and almost no one visits the dentist on a regular basis. In a week, three out of five patients visiting our clinic come with signs of unhealed mouth ulcers, white and red patches, difficulty opening the mouth, or altered speech and swallowing, and are often diagnosed with mouth cancer.”

Tobacco in any form, including vaping, can damage the body from the oral cavity to the lungs, as well as the heart, urinary bladder, and brain. Combined with alcohol, the incidence of cancer rises threefold. Maintaining good oral hygiene, avoiding tobacco and alcohol, reducing spicy processed food intake, and undergoing regular dental or oral check-ups are key to preventing mouth cancer, and early detection can lead to a cure.