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.”

Many people assume that if they exercise regularly, eat healthy, and stay active, they are naturally protected from serious illnesses like lung cancer. It is a comforting belief but unfortunately, it is not entirely true. While a healthy lifestyle lowers the risk of many diseases and improves overall well-being, it does not make anyone completely immune to lung cancer.

This misconception often leads to another problem: delayed diagnosis. When someone who has never smoked or is physically fit develops a persistent cough, unusual tiredness, or breathlessness, they may dismiss these symptoms as a lingering cold, seasonal allergies, or simply overexertion after a workout. Family members may do the same, assuming that someone who looks healthy couldn't possibly have a serious lung condition. As a result, valuable time may be lost before medical help is sought.

Being Fit Doesn't Eliminate Lung Cancer Risk

Some forms of lung cancer, especially adenocarcinoma, develop in the outer parts of the lungs, where they may grow silently for months before causing noticeable symptoms.

Also read: The 'Safer Than Smoking' Myth? Doctors Warn Vaping May Carry Its Own Lung Cancer Risks

Warning Signs That Should Never Be Ignored

One of the challenges is that active individuals often have better lung capacity and stamina, allowing their bodies to compensate for early changes. This can make the warning signs subtler in the beginning.

A persistent cough, breathlessness during activities that once felt easy, unexplained fatigue, chest discomfort, hoarseness of voice, recurrent chest infections, coughing up blood, or unexplained weight loss should never be ignored, especially if these symptoms last for more than two to three weeks.

Also read: Bryan Johnson's New 2.6M Women's Health Project Centers on Girlfriend's Menstrual Blood

Early Detection Can Save Lives

The encouraging news is that early detection can make a significant difference. Recognizing persistent symptoms and seeking medical evaluation promptly can lead to earlier diagnosis, when treatment is often more effective. Depending on an individual's symptoms and risk factors, a doctor may recommend investigations such as a chest X-ray or CT scan.

Staying physically active remains one of the best decisions a person can make for their health. Exercise strengthens the heart, improves lung function, and reduces the risk of several chronic diseases.

But fitness should never create a false sense of security. The body has its own way of asking for attention, and listening to those signals no matter how healthy a person feels can sometimes be the most important step toward protecting long-term health.

By Dr. Jayesh Prajapati, Senior Consultant Surgical Oncology, Sterling Hospital, Ahmedabad

The first 1,000 days, right from pregnancy until a child's second birthday, are a crucial window for growth and brain development. Hence, understand that breastfeeding during this period plays a key role in building lifelong health and immunity for the child. Read on to know more about how breastfeeding tends to shape the child’s health for life.

Why the First 1,000 Days Matter?

The first 1,000 days of a child's life, right from conception until the age of two years, is often a critical time for growth and development. During this time, brain development happens rapidly, organs mature, and even the immune system tends to become stronger.

Good nutrition tends to have a huge impact on the child’s physical health, learning ability, and even overall well-being. Breastfeeding helps the baby to get enough nutrition. Breast milk also protects babies from infections and tends to support healthy growth.

Also read: Breastfeeding Moms Are Mixing Formula & Breast Milk-Should You?

How Breastfeeding Shapes Lifelong Health?

Breastfeeding involves a correct balance of proteins, healthy fats, vitamins, minerals, and antibodies that a growing baby needs. Breastfeeding strengthens the baby's immune system. Babies who are breastfed will be able to prevent diarrhoea, ear infections, and respiratory illnesses.

Important nutrients such as DHA and other healthy fats help in the growth of the brain and nervous system, which may improve learning and cognitive development later in life. Did you know? Breastfeeding is important and even helps to reduce the chances of obesity, type 2 diabetes, and certain allergies as children grow older.

It encourages healthy weight gain during infancy and helps develop better eating habits. Breastfeeding is also beneficial for mothers. It helps the uterus return to its normal size after childbirth, reduces bleeding after delivery, and may lower the risk of breast and ovarian cancers. Breastfeeding creates a strong emotional bond with their baby through close skin-to-skin contact.

Also read: Breastfeeding Week: Experts Share How Breastfeeding Helps You and Your Child?

Tips for Successful Breastfeeding

• Start breastfeeding within the first hour after birth whenever possible and don’t discontinue without the doctor’s knowledge.
• Exclusively breastfeed for the first six months without giving water or other foods unless advised by a doctor.
• Continue breastfeeding the child along with giving nutritious complementary foods until two years of age.
• Feed the baby without fail whenever they show signs of hunger instead of following a strict routine.
• Eat a balanced diet, drink enough fluids, and get adequate rest to support milk production.
• Seek help from a doctor or lactation consultant if breastfeeding challenges arise.

Hence, follow these tips and ensure proper breastfeeding for the child.

By Dr Nishant Bansal, Consultant - Paediatrician & Neonatologist, Motherhood Hospitals, Noida

Patient should not be afraid to ask what type of lung cancer, Stage and spread of disease whether it has spread and what is stage of disease, This information helps direct treatment decisions and provides insight into the future prospective of disease status .

The patient should self designate a Trustee who will take care of her Medical Records , fixing up appointment and be responsible for medication administration. A diagnosis of lung cancer can be shocking and worrisome, but knowing what to expect can help patients make more informed choices.

The first lesson is that lung cancer can be very different from patient to patient. Treatment depends on the type, stage as well as genetic changes and health.

Ask About The Exact Diagnosis

Molecular Testing Can Change Treatment

For lung cancer patients some patients will require testing the tumour for specific Molecular markers which help in deciding type of immunotherapy . Before beginning treatment, patients should be asked for if they have had the appropriate tests done for fitness before therapy.

Treatment Is Not Always Just Chemotherapy

Modern lung cancer care may involve surgery, radiation therapy, chemotherapy, targeted medicines and immunotherapy, often in various combinations. The best treatment will depend on the type of cancer and the health of the patient.

Also read: What Is Driving India's High Burden Of Childhood Cancers?

Symptoms and Side Effects Should Be Reported

Patients should not quietly accept worsening shortness of breath, pain, fever, severe weakness, poor appetite or side effects of treatment. Early communication can assist doctors in managing complications and maintaining quality of life.

Supportive Care Matters Too

Palliative or supportive care is not just for the end of the cancer course. It can be given along with cancer treatment to help manage symptoms, improve emotional wellbeing and increase everyday comfort.

Above all, I do not think that a diagnosis means there are no options. The treatment of lung cancer is changing rapidly and the results can vary greatly from patient to patient. Ask questions, clarify, and understand treatment plan and when appropriate, get a second opinion before making major decisions.