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.”

Doctors in Mumbai are reporting a simultaneous rise in Covid-19, H1N1, commonly known as swine flu, and other respiratory viral infections.

As per the doctors, there is up to a 30 per cent surge in cases of COVID-19 and H1N1 as well as viral infections in the city. The doctors attributed the surge in infectious diseases to seasonal changes.

“We are currently observing a 20-30 per cent surge in Covid-19 and H1N1 (swine flu) respiratory viral infections in the city, mainly due to seasonal changes, increased humidity, and exposure to crowded places,” Dr. Aniket Mule, Consultant Internal Medicine, KIMS Hospital Thane, told HealthandMe.

Dr. Amit Saraf, Director of the Department of Internal Medicine, Jupiter Hospital, Thane, reported a rise in influenza-like illness (ILI) in the hospital.

“There is a seasonal rise in respiratory infection cases in Mumbai. Most of the people have routine viral infections, and around 10-15% of the people who are coming to OPDs have been coming positive for influenza-like illness (ILI) due to the changing weather,” Dr. Amit told HealthandMe.

Dr. Rohit Deshpande, Consultant Internal Medicine, Lilavati Hospital and Research Centre in Mumbai, told HealthandMe that the hospital is seeing a rise in swine flu cases.

“On average, 7 to 8 cases are being detected in the OPD daily. Most patients present with symptoms such as fever, cough, body ache, and fatigue”.

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What Are The Symptoms?

The experts reported that the commonly seen symptoms include:

• persistent fever,
• dry or wet cough,
• sore throat,
• fatigue,
• body ache
• mild breathlessness

Who Is More Vulnerable?

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Dr. Amit noted that people with chronic illnesses, elderly people, pregnant women and young children are still more susceptible to complications.

Dr. Rohit noted that people with diabetes and those with conditions such as COPD, asthma and heart diseases are also at higher risk of infection.

How To Prevent?

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The experts noted that most of the cases now are mild and can be handled with timely consultation, rest and supporting care.

But older people, pregnant women, children, and those with pre-existing health conditions should take extra care. Those with an ongoing fever, cough, sore throat, breathlessness, or extreme tiredness should seek immediate medical advice, Dr. Aniket said.

“Simple preventive measures like hand hygiene, use of masks in crowded places, proper hydration and timely medical consultation can help a lot in reducing the risk of complications,” he told HealthandMe.

Preventive measures for the general population include:

• Avoid self-medication
• If you experience a persistent cough or breathing difficulties, consult a doctor regarding the need for anti-viral or anti-allergy medications.
• Get vaccinated every year to boost Immunity and reduce the risk of infection.
• Avoid crowded and dusty places, redevelopment areas, or places with pigeon droppings.
• Use hand sanitizer, wash your hands frequently and thoroughly, and wear a mask in crowded or dusty environments
• Do warm saline gargles with salt or betadine twice or thrice a day
• Take steam hydration if required too
• Maintain hydration to avoid weakness, fatigue, or headache
• To boost immunity - consume green leafy vegetables & Vitamin C-rich fruits along with Vitamin D supplements

The common perception about varicose veins is that they are merely an aesthetic or cosmetic problem. Varicose veins are indeed enlarged, twisted blood vessels that many people believe are not life-threatening. But the reality is that the condition may be a symptom of something more serious.

The disease manifests itself through insufficient blood supply in the body caused by faulty valves. As the blood vessels cannot effectively move the blood from the veins back to the heart, the blood tends to accumulate in the veins themselves. Other symptoms may include pain, heaviness, swelling, and skin sores in severe cases.

What Are The Causes Of Varicose Veins?

Varicose veins don’t develop overnight; they are usually the result of multiple underlying factors that gradually affect vein health and blood flow:

1. Valve dysfunction and poor circulation: Healthy veins rely on tiny valves to prevent backflow. When these valves weaken, blood starts collecting in the veins, leading to increased pressure and visible swelling.

2. Prolonged standing or sitting: These days, occupations require long hours of standing, which can hinder proper blood circulation and increase the risk.

3. Hormonal changes: Hormonal fluctuations during pregnancy, menopause, or while using hormonal therapies can relax vein walls, making them more prone to dysfunction.

4. Genetics: A family history of varicose veins significantly raises the likelihood of developing them, indicating a hereditary component in vein wall strength and valve efficiency.

5. Obesity and lack of physical activity: Excess body weight puts additional pressure on veins, while a sedentary lifestyle reduces the efficiency of blood circulation, leading to vein damage over time.

6. Ageing: As people age, veins lose elasticity, and valves may wear out, making older adults more susceptible to developing varicose veins.

What Are The Tips To Take Care Of?

People can manage or reverse varicose veins by:

• Making sure blood is circulating well in the body: An inactive lifestyle or standing for long periods can lead to increased risks of vein disease. Exercise and movement, along with raising the legs, will ensure that blood continues circulating well.

• Maintaining a healthy weight: Obesity can lead to increased pressure on the veins of the legs. Maintaining a healthy body weight is important to avoid and treat varicose veins.

• Wear compression stockings: Compression stockings apply gentle pressure to the veins, which enables them to circulate blood effectively and avoid swelling and other conditions.

• See a vein specialist if necessary: In cases of persistent pain, discoloration of skin, severe itching, or sores that don't heal, it is advised to see a vein specialist, as these symptoms could signal something worse.

How Can It Be Treated?

Varicose vein treatment procedures have become much easier in the modern world. Varicose veins can now be treated with minimally invasive procedures that address the problem at its root cause. These minimally invasive treatments include EVLT (Endovenous Laser Treatment), Radiofrequency Ablation (RFA), and glue ablation. A laser fibre is inserted into the varicose vein during this operation, where it effectively closes it off.

Blood is automatically redirected through other veins after this treatment, which is relatively quick and involves local anesthesia. Patients generally recover within one day. However, EVLT is much less painful, safer, and does not involve leaving scars behind.

Varicose veins are often a symptom of vein disease and thus not just a cosmetic problem. They can be a visible sign of an underlying circulatory issue. Paying attention to early symptoms and seeking medical advice can help prevent complications and improve overall vascular health. Preventing further problems is easy when one knows what to do.

Knee problems were once considered an issue associated with old age. However, an increasing number of Indians in their 30s are experiencing knee pain, stiffness, and cartilage damage similar to arthritis. Doctors are reporting more cases of young adults seeking treatment for knee-related issues that can affect mobility and quality of life.

Sedentary Lifestyle And Lack of Physical Activity

One of the biggest reasons behind early knee damage is a sedentary lifestyle. Many young professionals spend long hours sitting at desks, working on computers, or using mobile devices. Lack of regular movement weakens the muscles around the knees, reducing the support they provide to the joint.

At the same time, some individuals suddenly engage in intense workouts without proper conditioning. This puts excessive stress on the knees, increasing the risk of injuries and long-term wear and tear. Maintaining a balanced exercise routine with strength training and stretching can help protect knee health.

Rising Obesity And Excess Weight

India has witnessed a rise in obesity among young adults. Excess body weight places additional pressure on the knee joints, which are responsible for supporting most of the body’s weight. Even a small increase in weight can significantly increase stress on the knees during activities such as walking, climbing stairs, or running.

Over time, this extra pressure can lead to cartilage deterioration, inflammation, and chronic pain. Maintaining a healthy weight through proper nutrition and regular exercise can reduce the risk of developing arthritis-like symptoms at an early age.

Poor Posture And Nutritional Deficiencies

Poor posture while sitting, standing, or exercising can also contribute to knee problems. Improper movement patterns may cause uneven stress on the joints, leading to gradual damage. Additionally, untreated sports injuries or ligament tears can accelerate knee degeneration if not managed properly.

Nutritional deficiencies, particularly low levels of vitamin D and calcium, are another concern. These nutrients play a vital role in maintaining strong bones and joint health. Deficiencies can weaken the musculoskeletal system and make individuals more susceptible to knee-related issues.

Steps to Protect Knee Health

Preventing early knee damage requires a combination of healthy habits. Individuals should engage in regular low-impact exercises such as walking, swimming, or cycling to strengthen the muscles around the knee. Maintaining a healthy body weight can significantly reduce pressure on the joints.

It is also important to follow an ergonomic posture while working, take frequent breaks from prolonged sitting, and avoid sudden high-intensity workouts without proper preparation. A balanced diet rich in calcium, vitamin D, protein, and anti-inflammatory foods can support bone and joint health. Most importantly, persistent knee pain should not be ignored, and timely consultation with a healthcare professional can prevent minor issues from becoming serious conditions.

Conclusion

The growing incidence of arthritis-like knee damage among Indians in their 30s is a result of multiple lifestyle factors, including inactivity, obesity, poor posture, injuries, and nutritional deficiencies. While the problem is becoming more common, it is largely preventable. Regular exercise, maintaining a healthy weight, following a balanced diet, and seeking timely medical attention can help preserve knee health and reduce the risk of long-term joint damage.

(By Dr. Sanjeev Kapoor, Senior Consultant, Rheumatology, ISIC Multi-Speciality Hospital)