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.”

For a patient with advanced heart failure, there comes a point when medicines, devices and repeated hospitalisations can no longer control the disease. For some, a heart transplant may offer the only realistic path to long-term survival. Yet in India, the challenge often begins much earlier than the waiting list: many patients who could potentially benefit from transplantation never reach an advanced heart-failure or transplant centre for evaluation.

The scale of the problem is enormous. A recent study found that 83,000 heart transplantations were required annually in India in 2021, although only a very small proportion of that need was met. In comparison, according to the National Organ and Tissue Transplant Organisation (NOTTO), 221 heart transplants were performed in 2023.

Why Patients With Advanced Heart Failure Miss Out

The first issue is delayed referral. Patients with advanced heart failure may continue to be treated repeatedly for breathlessness, fluid retention or hospital admissions without being assessed early for advanced therapies.

A transplant evaluation is not a last-minute decision. It requires time to assess the patient's medical condition, other organs, infection risk, nutrition, psychosocial circumstances and ability to undergo lifelong follow-up.

The second challenge is the limited availability of donor hearts. Heart transplantation depends almost entirely on deceased organ donation. India has made substantial progress in transplantation overall, but the national deceased organ donation rate remains less than one donor per million population.

How Geography And Cost Affect Access To Transplants

Geography and affordability also matter. Advanced heart-failure programmes and transplant centres are concentrated in selected regions, meaning that patients from smaller cities and rural areas may face substantial travel, financial and logistical barriers.

The cost of evaluation, repeated hospitalisations, mechanical circulatory support and post-transplant medicines can further influence whether a patient can realistically pursue transplantation.

Also read: “You’ve Got A Pig’s Heart!” Genetically Modified Pigs with Human-like Organs Transforming Organ Donation; Details Inside

When Should Patients Be Referred To A Transplant Centre?

We therefore need to change the way advanced heart failure is recognised. A patient with recurrent hospitalisations, persistent symptoms despite optimal therapy, progressive kidney or liver dysfunction, low blood pressure limiting medications, or dependence on intravenous therapies should trigger consideration of referral to an advanced heart-failure centre.

Early referral gives specialists more time to evaluate the patient, assess treatment options and determine whether transplantation or another advanced therapy is appropriate.

Heart Transplant Is Not The Only Advanced Treatment

Importantly, transplantation is not the only advanced therapy. Left ventricular assist devices (LVADs) can serve as a bridge to transplantation or, in selected patients, as long-term therapy.

These devices can help support the heart's pumping function in patients with advanced heart failure who meet the criteria for their use. The appropriate option depends on the patient's condition, overall health and treatment goals.

India has demonstrated that transplantation can grow rapidly when infrastructure, coordination and public awareness improve. The next step is to ensure that patients are identified early enough to be evaluated, and that a shortage of donor organs does not remain the only reason they never get the opportunity to reach the transplant list.

By Dr. Pravin Kulkarni, MBBS, MS (General Surgery), MCh (Cardiovascular and Thoracic Surgery), Fellowship in CTS, Director, Advanced Cardiac Surgery and Heart and Lung Transplant Program

According to the latest National Family Health Survey (NFHS-6), 30.7% of women aged 15-49 years in India are reported as overweight or obese, highlighting the growing importance of lifestyle factors in women’s reproductive and overall health. Along with nutrition and physical activity, sleep is another important factor for overall menstrual health and the ovulation cycle.

Ovulation is controlled by a complex interaction between the brain, pituitary gland and ovaries. This reproductive hormone system is closely connected to the body's circadian rhythm, which regulates the sleep-wake cycle and influences the timing of several hormonal processes. When sleep becomes consistently irregular or insufficient, these signals may become disrupted, potentially affecting the hormonal coordination required for normal ovulation.

How Sleep Disturbances May Affect Reproductive Hormones

Also read: Andrew Huberman’s Sleep Trick: Can Eye Movements Help You Fall Back Asleep?

One of the ways this may occur is through interference with the functioning of the hypothalamic-pituitary-adrenal (HPA) axis. The reproductive system relies on communication between the hypothalamus and pituitary gland to regulate the hormones involved in follicle development and egg release.

Melatonin is another hormone linked to sleep and circadian rhythm. It also has antioxidant properties in the ovaries. This is why the relationship between sleep and fertility may involve more than simply the number of hours a woman sleeps.

A 2025 study published in Chronobiology International found that a later chronotype, or a tendency to sleep and wake later, was associated with a higher risk of sporadic anovulation among women with regular menstrual cycles.

Each one-hour increase in later chronotype was associated with a 5% higher relative risk of anovulation (RR 1.05; 95% CI 1.00–1.11), while women in the third chronotype tertile had a 33% higher relative risk compared with those in the second tertile (RR 1.33; 95% CI 1.05–1.68).

Interestingly, sleep duration itself was not associated with anovulation, suggesting that sleep timing and circadian patterns may also matter.

Poor Sleep Quality May Also Matter During IVF

Sleep may also be relevant during fertility treatment. A 2025 prospective cohort study of 174 women undergoing IVF/ICSI reported that women with poor sleep quality had 22.89% fewer retrieved oocytes and 22.01% fewer matured oocytes after adjustment for relevant factors.

The study also reported associations between certain sleep patterns and other IVF outcomes. However, these findings are observational and do not establish that poor sleep directly causes poorer fertility outcomes.

Breast cancer is often thought of as a disease that affects older women. However, younger women can develop breast cancer too, and receiving a diagnosis in your 20s or 30s can come as a shock, particularly when there is no known family history or obvious risk factor.

While breast cancer is less common at a younger age, being young should not mean dismissing a breast change. Here is what young women should know.

Being young doesn't mean a breast lump isn't worth investigating

Most breast lumps are benign, but a doctor should evaluate any new or persistent breast change. This includes a lump in the breast or under the arm, a change in breast size or shape, dimpling or puckering of the skin, changes in the appearance or position of the nipple, or unusual nipple discharge, especially discharge that is bloody.

Breast changes can occur because of hormonal fluctuations and several non-cancerous conditions, particularly in younger women. However, it is important not to assume that a change is harmless simply because of age.

Know your individual risk

Age is one of several factors that influence breast cancer risk. Having a close relative, such as a mother or sister, with breast or ovarian cancer can increase risk, particularly when the cancer occurred at a younger age. Certain inherited genetic changes, including BRCA1 and BRCA2 mutations, can also increase the risk of breast and ovarian cancers.

Previous radiation exposure to the chest at a young age is another recognised risk factor.

This is why knowing your family history matters. If breast or ovarian cancer has affected several close relatives, discuss your family history with a doctor. Depending on the pattern of cancers in the family, genetic counselling or testing may be recommended. Genetic testing, however, is not necessary for everyone and should be guided by an individual's risk profile.

Also read: ‘Feels Like I’m A Few Days From Death’: Olympic Sprinter Beth Dobbin Says She Is Bedbound 22 Hours A Day

Don't wait for a lump to become painful

Breast cancer does not always cause pain, and early-stage disease may not produce noticeable symptoms. At the same time, breast pain or tenderness and lumps can occur with several benign conditions.

In India, particularly across warmer and more humid regions, breast discomfort can also be aggravated by wearing very tight, heavy padded or underwired bras for prolonged periods. Such bras may cause pressure, friction and discomfort and can contribute to breast pain or mastalgia in some women, especially when the fit is not appropriate.

It is important to clarify that there is no scientific evidence that wearing tight, padded or underwired bras causes breast cancer. However, an uncomfortable or poorly fitting bra can contribute to breast discomfort. Choosing a well-fitted, supportive bra and avoiding prolonged pressure or friction may help reduce symptoms.

The important thing is to pay attention to changes that are new, unusual or persistent rather than trying to diagnose them yourself. Young women should be familiar with how their breasts normally look and feel so they can recognise when something has changed.

Also read: Dr Rachna Shroff: Indian-American Cancer Researcher Who Turned Her Diagnosis Into Advocacy

Screening should be based on risk, not age

Most women in their 20s and 30s who are at average risk do not need routine mammography screening. However, women with a higher-than-average risk may need to begin screening earlier and may require additional tests, such as breast MRI or mammography, depending on their individual circumstances.

Screening recommendations should therefore be based on personal and family history rather than age alone. Women who are concerned about their risk should discuss an appropriate screening plan with their doctor.

What can young women do?

Know your family history and share any significant concerns with your doctor. Maintain a healthy lifestyle by eating a balanced diet, exercising regularly, avoiding smoking and limiting alcohol consumption.

Most importantly, do not dismiss a breast change simply because you are young. Breast awareness is about understanding what is normal for you and recognising when something is different.

A breast lump or other change does not automatically mean cancer, but getting it checked can provide clarity and ensure that any condition requiring treatment is identified at the appropriate time. For young women, awareness is not about living in fear—it is about being informed, attentive and proactive about their health.

By Dr. Tapti Sen, Sr. Consultant - Breast Surgery, RG Hospitals, Kolkata