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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
Seasonal factors can aggravate dandruff. (Photo credit: iStock)
As winter transitions into warmer summer months, many people notice a sudden worsening of dandruff. During colder months, dandruff often appears as dry, fine flakes due to scalp dryness. However, as temperatures rise and humidity increases, dandruff can become oily and sticky because of increased sweating and sebum production. This seasonal shift highlights that dandruff is not limited to a particular time of year; rather, changes in climate can disrupt scalp balance and trigger flare-ups. Dr. Anupriya Goel, MBBS, MD, DPD (UK) – Dermatology, answered this for us.
Many people struggle to understand why dandruff keeps recurring. It is often treated as a temporary cosmetic concern, but in reality, dandruff is a chronic scalp condition that requires consistent care and appropriate treatment. The primary cause of dandruff is a yeast called Malassezia globosa, which naturally resides on the scalp. This microorganism feeds on sebum (the natural oils produced by the scalp). As it breaks down these oils, it releases by-products that can irritate the scalp, leading to inflammation, itching, and visible flaking.
Seasonal factors further aggravate this process. In winter, cold air, low humidity, indoor heating, and frequent hot showers can strip the scalp of its natural moisture and weaken the skin barrier, resulting in dryness and flaking. In contrast, summer brings increased sweat and oil production. The combination of humidity, sweat, and sebum creates an ideal environment for Malassezia to multiply, which can worsen dandruff symptoms.
Read here: Simple Secrets To Establishing The Right Winter Hair Care Routine
Environmental factors such as pollution can also settle on the scalp and contribute to irritation. In addition, daily habits like wearing helmets for long hours, tying up damp hair, or not cleansing the scalp regularly can further disrupt scalp health. The transition period between seasons is often the most challenging, as the scalp has limited time to adapt to changing environmental conditions.
Because dandruff is often mistaken for a temporary issue, many people rely on occasional treatments or home remedies. However, effective management typically requires regular scalp-focused care using clinically proven active ingredients.
Treating dandruff
One such ingredient commonly used in anti-dandruff formulations is Piroctone Olamine, an antifungal agent that helps control the growth of Malassezia on the scalp. By reducing fungal proliferation, it helps address the underlying cause of dandruff and can assist in decreasing flaking, itching, and scalp irritation. It also helps cleanse the scalp by removing excess oil and buildup while being relatively gentle on the hair and scalp.
Read more: 7 Ayurvedic Hair Health Tips You Should Try For Healthy Locks
For optimal results, individuals experiencing recurrent dandruff may benefit from incorporating an anti-dandruff shampoo containing Piroctone Olamine into their regular hair care routine. Consistent use is important for maintaining scalp balance. During periods of increased sweating, such as in hot and humid weather, washing frequency may be increased as needed. Maintaining hygiene practices such as regularly cleaning helmets, pillowcases, and hair accessories can also help minimise recurrence.
In addition to controlling dandruff, well-formulated shampoos containing Piroctone Olamine are often combined with conditioning and moisturising ingredients that help maintain hair softness and scalp comfort while supporting long-term scalp balance.
Children living with autism often struggle with social interactions. (Photo credit: iStock)
World Autism Awareness Day is observed on April 2 every year, a day to spread awareness about autism, its causes, symptoms, and what parents can do to help their children. But even when it comes to autism, there is a great deal of prejudice surrounding the disorder, which often forces parents into a state of denial. A condition which initially comes across as a personality trait—shyness, for instance—is usually diagnosed late. Dr Hamza Hussain, Head of the Department of Psychiatry and Mental Health at Ruby Hall Clinic, Pune, in an interview with Health and Me, explained how parents can spot the signs of autism early in their children.
It is completely understandable for parents to feel worried when they notice delays in their child’s speech, social engagement, or behaviour. That said, it is important to recognise the differences between early indicators of Autism Spectrum Disorder (ASD) and other developmental patterns or conditions.
Read more: World Autism Awareness Day 2026: Can Cell Therapy Be The Future Of Autism Treatment?
Children who may be on the autism spectrum often display ongoing difficulties with social communication and interaction. They might avoid making eye contact, not consistently respond when their name is called, show delays in speech, or find it challenging to engage in two-way conversations. Repetitive actions—such as hand movements, arranging toys in a particular order, or insisting on strict routines—can also be early indicators. On the other hand, children with ADHD are usually more socially responsive but may struggle with focus, impulsive behaviour, and high activity levels. A speech delay alone does not necessarily point to ASD, especially if the child shows good non-verbal communication like gestures, expressions, and social interest.
What are ASD patterns?
One important way to tell the difference is by observing patterns over time. Signs of ASD tend to be consistent across different situations and environments, whereas other behaviours may change depending on the child’s mood, surroundings, or level of stimulation.
Support at home plays a vital role in a child’s development. Simple, consistent interactions can go a long way. Spending time in face-to-face play, encouraging eye contact, and talking through daily activities can strengthen communication skills. Reading stories, singing rhymes, and using gestures can further aid language development. It is also helpful to limit screen exposure, as too much screen time can impact attention span and social learning.
Read more: Why Autism In Women Is Often Overlooked And Misdiagnosed
How can parents help?
Having a structured daily routine can help children feel more secure, while encouraging and praising positive behaviours can reinforce learning. Above all, recognising concerns early and seeking timely intervention can significantly improve outcomes. If parents feel uncertain about their child’s development, consulting a professional early on can provide clarity and the right support for the child’s growth.
Credit: iStock
Autism in women is not often entirely recognized because this disorder does not always have to correspond to the “classic” picture characteristic of males.
The diagnosis is based on a male criterion with such behavior as obvious withdrawal from a group, overtly displayed repetitive behaviour, and limited interests. There can be mild social deficit or internalized anger and frustration that can pass unnoticed in clinical practice.
One of the most significant reasons behind underdiagnosis is masking (also called camouflaging). Masking is one of the most significant reasons for underdiagnosis. This is helpful in masking but also covers or conceals essential symptoms.
Masking causes mental exhaustion, anxiety, and burnout, but it does not address the underlying autism and leaves it undiagnosed.
There is a strong societal stereotype that autism is a “male condition”. This bias is felt by parents, teachers, as well as health care professionals.
Sex bias is evident in that boys get referred for evaluation early. Girls are often tagged “shy,” “sensitive,” and “introverted.”
Their struggles are normalized instead of being explored for any issues. Gender bias is a significant contributor to delayed or wrong diagnosis.
A restricted interest is another hallmark of autism, but in women, it tends to be more socially acceptable. Their interests conform to the norms of society; they do not predispose clinical suspicion as opposed to more masculine interests like mechanical systems or numbers.
Autism in women being misdiagnosed as other psychiatric disorders is due to symptom comorbidity. Some of the common misdiagnoses are:
In many cases, these are secondary to autism as a result of years of living with undiagnosed autism.
From an early age, girls are often conditioned to be socially attentive, empathetic, and compliant. This societal conditioning pushes autistic girls to adapt and hide their difficulties.
These may include forcing themselves into socializing. Fitting in is deemed more important than comfort. They end up creating coping mechanisms that mask their difficulties.
While this may benefit outward functioning, it postpones the recognition of underlying neurodevelopmental differences.
Delayed diagnosis or missed diagnosis has the following effects:
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