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.”

With flu season setting in across countries, including the US and the UK, doctors are urging people to get their annual flu shots. October offers an opportunity to build protection before winter flu activity increases.

The UK Health Security Agency (UKHSA) reported above-average flu activity and urged at-risk groups to get vaccinated. England's flu vaccination program last winter is estimated to have prevented about 100,000 hospital admissions and 7,000 deaths.

The US Centers for Disease Control and Prevention (CDC) recommends annual flu vaccination for everyone aged six months and older. The seasonal vaccine targets influenza A(H1N1), A(H3N2) and B/Victoria viruses.

In September, the Indian Medical Association (IMA) also highlighted annual influenza vaccination and gaps in adult immunization.

Why Is October A Good Time To Get Vaccinated?

Also read: Flu Activity Rises Early In US, UK And Japan: Why Experts Urge Vaccination Before Winter

The flu vaccine takes about two weeks to build protection, making October a good time to get vaccinated before winter, Dr. Bhawna Malik, Senior Consultant-Neonatologist and Pediatric Intensivist at Motherhood Hospitals, Greater Noida, told HealthandMe.

In India, flu activity can increase between January and March. Vaccination in October allows time for immunity to develop before this period.

However, October is not the only option. Dr. Vikas Maurya, Senior Director and HOD, Pulmonology, Fortis Hospital, Shalimar Bagh, told HealthandMe that vaccination can also be taken between April and mid-June, ahead of another period of flu activity from July to September.

He said one dose annually is generally sufficient, with timing depending on local flu patterns and the vaccine used.

Who Should Get The Flu Vaccine?

Healthy adults and children, as well as people with underlying conditions, can benefit from flu vaccination. Influenza can cause pneumonia, hospitalization and other severe complications.

Older adults, particularly those aged 65 and above, and people with diabetes, heart disease, kidney or liver disease, asthma or chronic obstructive pulmonary disease (COPD) face a higher risk of complications.

“Flu vaccination doesn't protect just yourself against the risk of having influenza but it also prevents transmission of infection to other vulnerable people around ourselves like little ones, elderly family members and people with medical conditions,” Dr. Malik said.

Dr. Mohit Bhardhwaj, Consultant, Pulmonology, PB Health, Gurugram, told HealthandMe that annual vaccination helps protect individuals and reduce transmission, as flu viruses change and vaccine protection can decrease over time.

Flu Vaccine Schedule For Children And Adults

Read More: Flu 2026: Symptoms To Watch For As New Season Begins

The vaccine can be administered from six months of age. The schedule depends on age and previous vaccination history.

• Children aged six months to eight years: Some children receiving the vaccine for the first time need two doses at least four weeks apart.
• Children aged nine and above: Annual vaccination is generally recommended.
• Adults: One dose each flu season is generally recommended.
• Infants younger than six months: Cannot be vaccinated directly.

Dr. Malik recommends vaccination for parents, siblings and caregivers to help reduce the risk of transmitting influenza to infants who are too young to receive the vaccine.

Are There Any Side Effects?

Most flu vaccine side effects are mild and may include injection-site pain, redness or swelling, fever, headache, body aches and tiredness. These generally settle within a few days, Dr. Bhardhwaj said.

A cooling pack or an ice pack wrapped in cloth may help relieve injection-site discomfort. Nasal vaccines may cause a stuffy nose, cough or headache, Dr. Maurya noted.

The injected flu vaccine cannot cause influenza. Anyone experiencing persistent fever, breathing difficulty or unusual symptoms should seek medical advice. Those with a history of serious allergic reactions to a previous flu vaccine should consult their doctor before vaccination.

A migraine attack is characterised by nausea, vomiting and sensitivity to light and sound. But early symptoms may surface long before the headache itself. Signs like fatigue, mood changes, food cravings and difficulty focusing may appear hours or even days before the pain.

The symptoms that occur during the attack reflect a complex neurological process that involves several interconnected brain networks, rather than just a headache.

A new Lancet Seminar review, looks deeper into how migraine develops, why its symptoms extend beyond head pain and how the better understanding of its biology are affecting treatment.

The study authors describe migraine as a chronic neurovascular disorder shaped by genetic susceptibility and interactions between the brain’s sensory networks, nerves, and blood vessels.

What Happens In The Brain During A Migraine Attack?

Also read: These Yoga Asanas Could Cure Your Migraine

Migraine is the result of the interaction of multiple systems responsible for processing sensory information and transmitting pain. Researchers are focusing more on other factors that drive migraine rather than just blood vessel narrowing or widening.

An important concept is the trigeminovascular system, which is a network involving the trigeminal nerve, tissues sensitive to pain that surrounds the brain and blood vessels. When this system gets activated, the patient experiences the peculiar head ache.

Chemical messengers called neuropeptides also play a key role. One of the most important is calcitonin gene-related peptide (CGRP), which participates in pain signalling in migraine. Treatments that target CGRP is an important development in migraine treatment and management.

The condition also involves changes in how the brain processes sensory information. This explains why light, sounds or smells can become intolerable during an migraine attack, and why some patients experience nausea, dizziness or difficulty concentrating along with severe headache.

Not an isolated abnormality triggering every symptom, migraine involves interactive neurological and vascular processes whose contributions can vary between individuals and across different phases of an attack.

Symptoms May Begin Before The Headache

Also read: Saba Ali Khan Opens Up About Brain Tumour: Can It Go Unnoticed If You Walk, Talk And Work Normally?

Migraine attacks typically occurs through several phases mostly:

1. Prodrome: Hours or days before the pain

The earliest phase can involve fatigue, yawning, mood changes, food cravings, neck stiffness and difficulty concentrating. The involvement of brain regions linked with homeostasis, including the hypothalamus, may help explain why an approaching attack can affect sleep, appetite, mood and other bodily functions.

2. Aura: Temporary neurological symptoms

Some people experience an aura before or during the headache. This can include flashing lights, zigzag patterns, blind spots, tingling or temporary difficulties with speech. Aura is associated with a phenomenon called cortical spreading depression, a wave of changing electrical activity that moves across the brain’s cortex.

3. Headache: Pain and sensory sensitivity

During the headache phase, activation of the trigeminovascular system contributes to pain signalling. Patients may experience moderate-to-severe, often throbbing pain, alongside nausea, vomiting and sensitivity to light, sound or smells.

Movement can aggravate the pain, making routine activities difficult. The headache phase can last several hours to as long as 72 hours.

4. Postdrome: After the pain subsides

The end of an attack does not necessarily mean the attack is over. Some people experience exhaustion, dizziness, body aches and difficulty concentrating for hours or days afterwards. These phases can overlap, and their timing and severity differ from person to person.

The Lancet review also highlights the role of genetic and epigenetic factors that contribute to migraine risk. They interact with complex neurological networks, helping explain why some people experience occasional attacks while others develop frequent or chronic migraine.

Episodic migraine is characterised by fewer than 15 headache days per month. Chronic migraine involves headaches on at least 15 days per month for more than three months, including migraine features on at least eight days each month.

Breast cancer is the most common cancer among women in India. According to various estimates, it accounts for about 26% of all cancers diagnosed among women, with nearly 2,00,000 new cases estimated in India each year.

Family history is not the only risk

Family history is an important risk factor, as some women inherit genetic changes that can increase their risk of developing breast cancer. Hereditary breast cancers can result from inherited genetic susceptibility, including mutations in high- or moderate-penetrance genes. BRCA1 and BRCA2 are among the best-known genes associated with hereditary breast cancer. Therefore, knowing family history is important.

But the absence of a family history does not mean that women are free from risk. In fact, around 80-85% of breast cancer cases occur in women with no known family history. These are generally referred to as sporadic cases.

The risk factors

Breast cancer risk factors can broadly be divided into those that cannot be changed and those that can potentially be modified.

Among the non-modifiable factors are age and certain reproductive and hormonal factors. Longer lifetime exposure to hormones such as oestrogen and progesterone can increase breast cancer risk. Early menstruation, later menopause and having a first pregnancy at a later age are some factors associated with longer hormonal exposure.

Potentially modifiable risk factors are largely lifestyle-related and include alcohol consumption, physical inactivity, excess body weight (particularly after menopause) and tobacco exposure. Maintaining a healthy weight, staying physically active, avoiding tobacco and limiting alcohol can help reduce the risk.

Also read: Amanda Peet’s Breast Cancer Wasn’t A Lump: What Was Her First Sign?

Five signs that should never be ignored

The five important warning signs include:

• A new, hard lump in the breast or armpit, particularly if it is increasing in size.
• A change in the size or shape of one breast, especially when it creates a new difference in breast symmetry.
• Unusual nipple discharge, particularly spontaneous discharge that is clear or bloody.
• Changes involving the nipple, such as a newly inverted nipple.
• Changes in the breast skin, including thickening, dimpling, puckering or a change in its appearance or texture.

These signs do not automatically mean cancer. But they should not be ignored.

Also read: Mammogram May Spot Hidden Heart Risk That Doctors Miss In Women

Get checked if you notice a change

If you notice any of these signs, particularly a new or persistent change in your breast, do not ignore it or try to diagnose it yourself. Seek medical evaluation promptly. A doctor will assess the breast and, if necessary, recommend what is known as a triple assessment: a clinical examination, breast imaging such as ultrasound or mammography, and tissue diagnosis when required. In selected cases, an MRI may also be recommended.

Tissue sampling may involve Fine Needle Aspiration Cytology or a core/true-cut biopsy. Together, these assessments help determine whether a breast abnormality is benign or malignant. It is important to distinguish this from screening. Screening is done in women who do not have symptoms, with the aim of detecting breast cancer at an early stage. When a woman has a symptom or notices a new breast change, she needs diagnostic evaluation rather than simply screening.

Don't panic: most breast lumps are benign

Finding a lump can understandably cause anxiety. However, most breast lumps, particularly in younger women, are benign. Common causes include fibroadenomas, breast cysts and fibrocystic changes.

Fibrocystic changes are often influenced by hormonal fluctuations. A lump may become more prominent or painful one to two weeks before menstruation and become smaller or less uncomfortable after the period. Some women may also experience a feeling of heaviness or tenderness in the breast.

An injury to the breast can also result in tissue damage and inflammation, producing a lump-like area. Therefore, a lump should not be assumed to be cancer, but neither should it be dismissed without appropriate evaluation.

Early detection can make a significant difference in the successful management of breast cancer. Women should remember that having no family history does not mean they are not at risk. At the same time, a breast lump or other change does not necessarily indicate cancer. The key is to know your own breasts, be aware of the warning signs and seek timely medical evaluation whenever a new or persistent change is noticed.

By Dr Megha B - Surgical Oncologist in Trichy - Breast, GI & Cancer Surgery Specialist, Kauvery Hospital