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.”

When it comes to heatwave-like conditions, most people worry about the risk of dehydration and sunburn. But it turns out that the scorching heat could also take a toll on your skin—according to experts, extreme summer heat can increase the risk of skin infections. Heatwave-related skin infections can be triggered by high humidity, sweat, and bacteria trapped on the skin. Some of the other issues associated with heatwaves are folliculitis, heat rash, impetigo, and yeast infections.

What makes heatwaves conducive to increased skin infections?

Talking about it, Dr. Gitika Sanodia, Consultant Dermatologist at Dr. L H Hiranandani Hospital, Powai, answered some FAQs associated with heatwaves and consequent skin infections.

The expert said that when there is an increase in temperature, there is an increase in sweating, dehydration, and breakdown of the skin barrier, which creates an environment suitable for infection development, mainly in children, the elderly, diabetics, and obese individuals. Heatwaves also cause friction, which leads to skin infections. As a result, rashes can develop and cause a great deal of discomfort.

Can sweating too much increase the risk of infection?

During summer, because of the heat, one ends up sweating far more than normal, and if you are someone who often wears tight clothes, it can be even worse. Overproduction of sweat keeps the skin constantly wet. Such an environment provides perfect conditions for bacteria and fungi to multiply. Being trapped under breast tissue, between the thighs, and in folds around the neck and armpits causes conditions such as yeast infections or folliculitis.

What are the infections associated with heat?

During a heatwave, some skin infections are likely to develop silently. These include:

1. Fungal infections such as tinea and candidiasis
2. Bacterial infections such as folliculitis and boils
3. Heat rash resulting in miliaria

Who is at risk of skin infections during a heatwave?

At a time when temperatures are rising constantly, heatwave-related infections are likely to affect certain groups more than others. These high-risk groups are:

1. Children
2. The elderly
3. Overweight people
4. People with diabetes
5. People who wear tight or non-porous clothes during summer

How to prevent heatwave-related skin infections?

In order to prevent heatwave-related skin infections, you need not make major changes to your lifestyle or wardrobe. Rather, some simple, cost-free methods can also do the trick. Here are some expert-recommended tips to beat the heat:

1. Keep your skin dry, especially skin folds
2. Wear loose-fitting cotton clothes
3. Bathe after sweating
4. Do not share towels or undergarments with anyone
5. Use an antifungal dusting powder on susceptible areas
6. Keep yourself hydrated

With the increasing number of heatwaves, these problems have become more than just seasonal. However, with the right choices in terms of diet, lifestyle, and clothing, you may be able to avoid skin infections during a heatwave.

Persistent back pain in young adults is often dismissed as poor posture, long hours at a desk, or muscle strain. But doctors are warning that in some cases, it could be a sign of ankylosing spondylitis — a chronic inflammatory autoimmune disease that affects the spine and can silently progress for years before diagnosis.

In India, 16.5 lakh people suffer from the condition, with an average diagnostic gap of nearly seven years from the time symptoms first appear. During that window, the disease continues to silently progress, and the burden is far from small.

“Ankylosing Spondylitis is one of the most underdiagnosed conditions we encounter in clinical practice, and the consequences of that delay are real,” Dr. Arvind Mehra, Senior Director and HOD - Orthopaedics at Paras Health Gurugram, told HealthandMe.

Moreover, “It takes several years of pain and stiffness before people seek treatment, and by then, the diagnosis comes too late, and there has already been damage to the spine,” added Dr. Ashish Tomar, Director - Orthopaedics & Minimally Invasive Spine Surgery at Sarvodaya Hospital, Faridabad.

What Is Ankylosing Spondylitis?

Ankylosing spondylitis, also known as axial spondyloarthritis, is a type of arthritis that primarily targets the spine but can also affect other joints. The term “ankylosing” means stiff or rigid, “spondyl” refers to the spine, and “itis” indicates inflammation.

The inflammatory disease causes some of the bones in the spine to fuse over time. This fusing not only makes the spine less flexible but can also cause issues while breathing.

Ankylosing spondylitis leads to inflammation in the spine and large joints, causing stiffness and pain. It can also impact the joint between the spine and the hipbone, potentially resulting in additional symptoms such as digestive issues, rashes, and weight loss.

Not Your Typical Back Pain

What makes ankylosing spondylitis difficult to spot is that it often feels like ordinary back pain — but there are warning signs that set it apart.

According to experts, ankylosing spondylitis-related pain typically:

• Causes maximum stiffness early in the morning
• Gets worse after long periods of rest
• Improves with physical activity or exercise
• Persists for months rather than days or weeks
• Often begins in young adults, especially in their 20s and 30s

This pattern is very different from mechanical back pain, which usually worsens with movement and improves with rest.

Pain Beyond The Spine

Dr. Tomar told HealthandMe that ankylosing spondylitis is not simply a musculoskeletal problem — it is an autoimmune disease, where the body’s immune system mistakenly attacks healthy tissues, particularly around the spine and joints.

“Ankylosing spondylitis is not just another musculoskeletal disease. It requires the attention given to autoimmune disorders because it may affect the chest, hips, shoulders, and even the eyes, while also causing severe posture problems in advanced stages,” he said.

Beyond the spine, the disease may affect:

• Chest joints
• Hip joints
• Shoulders
• Eyes
• Posture, causing severe problems in the advanced stages

Who Is At Most Risk? How To Treat?

Young adults, typically in their twenties, are more likely to experience this condition because people often overlook its existence or mistakenly identify it as something else.

The combination of early diagnosis, structured physiotherapy, and suitable medications allows for effective disease progression control.

“When a young adult presents with inflammatory back pain, especially in the gluteal area, that persists beyond three months, the reflex should not be to prescribe a painkiller and wait. It should be investigated further. That shift in approach can make an extraordinary difference to someone’s long-term quality of life,” Dr. Tomar said.

Common treatments for ankylosing spondylitis include:

• Regular physical activity can reduce stiffness and prevent worsening of ankylosing spondylitis
• Over-the-counter painkillers for pain and inflammation
• Biologic DMARDs to reduce inflammation and pain, potentially halting disease progression.
• Corticosteroids are prescription anti-inflammatory medications
• Surgery is rarely suggested for severe symptoms unresponsive to other treatments.

When women are in their 40s, their bodies start to change a lot because of the hormones. This is mainly because the estrogen and progesterone levels in the body start to go down. This time is called Perimenopause.

It is when women start to move towards menopause. It can bring a lot of emotional changes. Some of these changes are normal.

Why Do Hormonal Changes Happen After 40?

After 40, women's bodies start to produce estrogen. This means they can have an imbalance.

Women's bodies need hormones like estrogen and progesterone to have periods, strong bones, a good mood, and to stay at a healthy weight. When these hormone levels change, it affects parts of the body. This change can take a year before it stops at menopause.

Common hormonal changes women experience

• Irregular periods

• Hot flashes and night sweats

• Mood swings and anxiety

• Weight gain and slower metabolism

• Sleep disturbances

• Skin and hair changes

Symptoms That Should NOT Be Ignored

While some changes are normal, some symptoms need a doctor's help:

• Heavy or prolonged bleeding

• Persistent fatigue

• Severe mood changes

• Sudden weight gain

• Bone pain or weakness

When women are over 40 and their hormones change, they are more likely to have:

• Heart disease
• Osteoporosis
• Thyroid disorders
• Metabolic issues

Estrogen helps keep the heart and bones healthy, so when its levels go down, women are more likely to have these health problems."

How Can Women Manage These Changes?

• Eat a balanced diet

• Exercise regularly

• Manage stress

• Have regular health check-ups

• Sleep well

Women should talk about these changes openly. If they know what is happening and see a doctor early, they can make this time easier.

Hormonal changes after 40 are a part of getting older, but women should not ignore them. Especially if the symptoms are very bad or happen all the time.

If women understand what is happening in their bodies and see a doctor when they need to, they can be healthier and more confident. If women take care of themselves now, they can have a life in the years to come.