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.”

Winter brings a significant rise in respiratory problems, particularly among people living with asthma. Increased air pollution, falling temperatures and exposure to dust and other airborne irritants can trigger inflammation in the airways, leading to symptoms such as coughing, wheezing, chest tightness and breathlessness.

While these factors can make asthma more difficult to manage, many patients also make treatment-related mistakes that can worsen their symptoms and increase the risk of an asthma attack.

One of the most common mistakes is discontinuing inhalers when symptoms improve. Asthma is a chronic inflammatory condition, and the absence of symptoms does not necessarily mean that the underlying inflammation has resolved. Controller inhalers, particularly those containing inhaled corticosteroids, help reduce airway inflammation and prevent flare-ups.

Stopping these medications without medical advice can leave patients vulnerable to sudden exacerbations, especially during periods of high pollution.

Another concern is the excessive reliance on rescue inhalers. These inhalers provide quick relief by relaxing the muscles around the airways, but they do not necessarily address the underlying inflammation. Frequent use may indicate that asthma is not adequately controlled and that the patient's treatment plan needs to be reviewed by a doctor. Patients should not increase their medication dosage or frequency without appropriate medical guidance.

Incorrect inhaler technique is another frequently overlooked problem. Patients may use their inhalers too quickly, fail to coordinate inhalation with medication release or neglect to hold their breath briefly after inhaling. These mistakes can prevent the medicine from reaching the lungs effectively. Regularly reviewing inhaler technique with a healthcare professional and using a spacer, where recommended, can significantly improve drug delivery.

Many patients also underestimate the importance of continuing their prescribed treatment during symptom-free periods. Some turn to steam inhalation, home remedies or over-the-counter cough medications instead of following their asthma management plan. Although certain supportive measures may provide comfort, they cannot replace prescribed asthma medication. Hot steam can also cause burns and should not be used as a treatment for asthma.

During winter, patients should monitor local air quality, reduce prolonged outdoor exposure when pollution levels are high, avoid tobacco smoke and other respiratory irritants, and keep their prescribed medication accessible. Wearing a well-fitting mask outdoors may help reduce exposure to particulate pollution, although it does not eliminate the risk.

Most importantly, people with asthma should have an individualised asthma action plan and attend regular follow-ups. Worsening breathlessness, difficulty speaking in full sentences or symptoms that do not respond to the prescribed reliever require urgent medical attention. With correct inhaler use, consistent treatment and timely medical review, most patients can manage their asthma more effectively even during highly polluted winter months.

(By Dr. Arunachalam M, Sr. Consultant and HOD-Pulmonology, Yatharth Super Speciality Hospital, Noida)

Changes in stride like a slower walking pace, fewer steps or a change in the way your arms move may be considered as signs of ageing. However, an emerging study suggests that minor differences in walking patterns could be subtle, early indicators of Parkinson’s disease. According to the study, these signs can can emerge years before Parkinson's diagnosis.

Published in the Journal of Neural Transmission, the study analysed movement data from more than 73,000 participants in the UK Biobank. Researchers found that certain changes in walking behaviour could indicate a future Parkinson’s diagnosis, surfacing up to 6.8 years beforehand.

The findings indicate that Parkinson’s disease may begin developing long before its more familiar symptoms like tremors and stiffness, become noticeable.

Findings From The Study

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Researchers examined data from 73,413 people who wore wearables that track movement for seven days. Their health records were then followed for up to 10 years. Of the participants without Parkinson’s at the time of the movement assessment, 314 were diagnosed with the disease during follow-up.

Using a digital analysis tool called Watch Walk, researchers examined 17 characteristics related to gait. They identified five walking characteristics that were consistently linked with a subsequent Parkinson’s diagnosis:

• Fewer steps each day: Participants who later developed Parkinson’s recorded lower daily step counts than those who did not.
• Slower walking speed: People who were diagnosed later tended to walk more slowly, including at their maximum walking speed.
• Shorter walking periods: They also spent a lesser amount of their time walking in longer, continuous stretches.
• Changes in step regularity: Their steps showed less consistent rhythm, indicating alterations in the regularity of their walking pattern.
• Reduced natural arm swing: They spent more time walking with their arms in a static position instead of swinging naturally.

Effects Of Parkinson’s Disease On Walking

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Parkinson’s disease is a progressive neurological disorder that affects movement. It occurs due to the loss of nerve cells that produce dopamine in a brain region called the substantia nigra. Dopamine helps regulate movement, coordination and other functions.

As dopamine levels decline, the brain's ability to coordinate movement is affected. This can lead to bradykinesia, or slowness of movement, rigidity of muscle, tremors and balance issues.

These changes can also affect gait. A person may take smaller steps, walk more slowly, experience difficulty moving or reduced swinging arms.

The study's findings suggest that some of these motor changes may be detectable in everyday movement well before the condition is formally diagnosed.

Changes in walking speed, balance, step length or arm movement can occur for several reasons, including ageing, joint problems, injuries, medication effects and other neurological conditions.

Parkinson’s disease is, however, diagnosed through a clinical assessment, which considers a person's symptoms, medical history and neurological examination. Other symptoms that may warrant medical evaluation include:

• A tremor especially when the affected hand or limb is at rest.
• Slowness in everyday movements like dressing or getting up from a chair.
• Muscle stiffness or rigidity.
• Problems with balance.
• Smaller handwriting or changes in speech volume.

Early Detection Of Parkinson’s Disease

Although there is currently no established treatment that stops or reverses the underlying progression of Parkinson’s disease, an earlier diagnosis can help people manage symptoms, access rehabilitation and support sooner.

Exercise, physiotherapy and medical care can help maintain mobility, balance and quality of life. Early assessment can also help doctors distinguish Parkinson’s from other conditions that may cause similar movement difficulties.

After the social media trend of ‘ferritin face’ had everyone scrutinising their face for pale skin, dark circles and sluggish features due to low iron levels, attention is now shifting to hair. Described as ‘ferritin hair’, social media users have been attributing symptoms like unusual hair shedding, thinning and brittle strands to the body’s low iron stores.

The trend is not just a fluke. There is a medical basis for recognising iron deficiency in people facing hair loss. However, ‘ferritin hair’ is not a formal medical diagnosis. Hair loss can be due to several reasons, including hormonal changes, stress, thyroid disorders, nutritional deficiencies and genetic hair-loss conditions.

So is there a connection between ferritin and hair health and which signs should prompt someone to seek medical advice?

What Is Ferritin And How Is It Connected To Your Hair?

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Ferritin is a protein that stores iron in the body and releases it when needed. A blood ferritin test helps assess the body's iron reserves. Iron is essential for several functions, including the production of haemoglobin, which carries oxygen in the blood.

When iron stores are exhausted, the body prioritises essential functions over those that are not absolutely necessary for survival. Hair growth may be affected in some people, contributing to increased shedding.

A 2023 clinical review published in Cutis noted that measuring serum ferritin can be useful while evaluating people with diffuse hair loss, especially to identify underlying iron deficiency.

A 2026 study published in Cureus reported that low serum ferritin and telogen effluvium in women may be connected.

A separate systematic review published in 2026 also found lower ferritin levels among people with telogen effluvium.

The European Food Safety Authority has also observed a cause-and-effect relationship between iron intake and the maintenance of normal hair growth.

Possible Signs Of 'Ferritin Hair'

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Hair shedding: One possible sign is diffuse hair shedding, in which more hair than usual falls from across the scalp rather than from one specific area. This can occur due to a condition called telogen effluvium, in which more hair follicles than usual enter the resting phase of the hair-growth cycle.

Hair thinning: Constant shedding can make the hair appear less dense over time. Some people may notice a wider-looking parting or thinner volume.

Dry or brittle hair: Iron deficiency may cause dry, brittle hair. However, hair texture can also be affected by heat styling, chemical treatments and other nutritional factors.

Other symptoms: Hair shedding may occur with other signs of iron deficiency like fatigue, weakness, poor concentration, breathlessness, palpitations or pale skin.

Causes Of Iron Deficiency Or Low Ferritin Levels

Iron deficiency can develop when the body loses more iron than it absorbs and does not receive enough through diet. Heavy menstrual bleeding and pregnancy are common reasons for iron deficiency. Other possible causes include:

• Inadequate dietary iron: People who do not consume enough iron-rich foods are at risk if their diets are restrictive.
• Poor absorption: Conditions such as coeliac disease can interfere with the absorption of iron.
• Blood loss: Gastrointestinal conditions like gastritis and intestinal polyps can sometimes lead to iron loss.
• Increased requirements: Pregnancy can demand increased iron needs.