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.”

The first national mental health survey carried out in India, 2015-2016, suggested that one in 10 Indians had a diagnosable psychiatric disorder.

Following the COVID-19 pandemic, there was a surge in common mental disorders (particularly anxiety and depression). Worldwide, the age of onset of substance use disorders is reducing, and there has been an increase in synthetic and pharmaceutical drug misuse.

Digital addiction is a growing problem, particularly among young people. Suicide is a major global concern, and in India, there were more than two lakh suicides in 2025. Rising suicides in urban areas and among students have been growing concerns.

Improving Mental Health Literacy

Just like people recognize physical disorders, it is important to improve mental health literacy so that people can recognize symptoms of a mental or psychiatric disorder in themselves or others. It is also important that they reach out for timely help, without a sense of feeling stigmatized.

Often, physical and mental disorders occur together and worsen each other, so addressing both is important to improve health outcomes.

How Government Is Tackling Mental Health Burden

The Government of India has initiated the Tele MANAS (14416) to provide telephonic mental health counselling and to link people up to other services. The National Mental Health Program of India seeks to provide decentralized mental health care at the District levels and below.

The Ayushman Arogya Mandirs also offer basic mental health support. NIMHANS, apart from providing quality institution-based services, has also been closely involved in developing community models of mental health care, working with non-governmental organizations and with community stakeholders. It has also been focusing on expanding human resources through its digital academy.

A second NIMHANS in northern India, strengthening some of the other institutions providing mental health care to expand infrastructure, human resources, and networking to develop a continuum of care from primary to tertiary care settings, is a recent step taken by the Union government.

Urological cancer cases are surging at an alarming rate in India. Yet, many patients continue to seek medical help only when the disease has reached an advanced stage. Doctors highlight that cancers affecting the urinary system are often silent during the initial stages and are ignored by people owing to a lack of awareness and hesitation in consulting an expert. It is important to remember that timely urology screening can help detect cancer early, reduce complications, and improve survival rates. Many people ignore symptoms and seek help only during the advanced stages, when the risk of complications also increases. Experts are urging people, especially those at higher risk, to seek early screening and intervention without delay.

What are urological cancers?

“People should prioritise their well-being and seek timely help,” said Dr Pradeep Rao, Head of Department – Urology Oncoscience, Gleneagles Hospital, Mumbai.

Diagnosis and treatment of urological cancers

Dr Pradeep Rao further explained how early-stage urological cancers are often treatable with less aggressive procedures, while advanced cancers require complex treatment and carry higher risks. Diagnosis is carried out through urine examination, ultrasound, and prostate-specific antigen (PSA) testing to detect cancer early. Timely screening and intervention can not only save lives but also preserve organ function. Advanced techniques such as robotic-assisted surgery are now widely used to provide relief to patients. Robotics has made diagnosis, treatment, and the healing journey much smoother for both patients and doctors.

What are the symptoms of urological cancers?

“Urological cancers such as prostate, bladder, and kidney cancer are rising across age groups, yet many patients seek medical help only when symptoms become severe. Each month, two to three patients in the age group of 30–65 consult me when symptoms worsen and the cancer progresses, which takes a toll on their overall well-being. Moreover, signs and symptoms such as blood in the urine, difficulty in urination, pelvic pain, or unexplained weight loss are often ignored, leading to advanced-stage disease that can cause anxiety and panic among patients. Delayed diagnosis can result in serious complications such as kidney damage, the spread of cancer, and reduced quality of life. Early screening and treatment are life-saving. Currently, a combination of robotic surgery, chemotherapy, radiation therapy, and targeted treatments offers better outcomes, but early diagnosis remains the most critical factor for successful recovery,” concluded Dr Anil Bradoo, Consultant Urologist, Zen Annexe, Zen Multispeciality Hospital, Chembur, Mumbai.

What are the benefits of robotic surgeries?

Dr Pradeep Rao also explained the benefits of robotic surgeries. Robotic-assisted prostatectomy for prostate cancer helps with the accurate removal of the prostate while protecting vital nerves, thereby reducing the risk of incontinence and erectile dysfunction. Robotic partial nephrectomy is performed for kidney cancer and helps remove diseased kidney tissue while preserving the kidney, with minimal blood loss and quicker healing. The advantages of robotic surgery include precise tumour removal with minimal blood loss, reduced pain and complications, shorter hospital stays, and faster recovery. Early-stage patients benefit the most from these modern treatments, which is why awareness and screening are so important.

Insulin resistance is a condition in which the body cannot effectively use insulin. Shockingly, this condition is now being linked to first-trimester miscarriages, especially in women with PCOS, with lab markers such as HbA1c and fasting insulin offering early clues. Therefore, it is essential for women to take charge of their health and maintain their blood sugar levels within the recommended range, as per Dr Sushruta Mokadam, Senior Consultant Obstetrician & Gynaecologist, Motherhood Hospital, Kharadi, Pune. The expert went on to talk about other aspects of the same, detailing just how first trimester miscarriages could be a consequence of ignoring high blood sugar or insulin resistance.

Why are miscarriages in the first trimester rising?

Currently, there is a surge in cases of miscarriages during the first trimester, which is raising concern among experts. This may be due to undiagnosed insulin resistance. Yes, that’s right—miscarriage is not only caused by infections, hormonal imbalance, or blood clotting disorders, but also by insulin resistance. Many women fail to pay attention to insulin resistance, which affects how the body processes sugar and plays a major role in causing hormonal imbalance. Women with Polycystic Ovary Syndrome (PCOS) are at a higher risk, as metabolic dysfunction can lead to miscarriage. Many women are experiencing repeated early pregnancy loss but are not screened for insulin resistance, leading to missed opportunities for early intervention.

How are miscarriages and insulin resistance linked?

Miscarriage and insulin resistance link: Insulin resistance occurs when the body’s cells do not respond properly to insulin, leading to higher blood sugar and insulin levels. This imbalance can impact ovulation and egg quality and interfere with the implantation of the embryo. In early pregnancy, it may affect placental development, increasing the risk of miscarriage in the first trimester. In women with PCOS, insulin resistance is commonly present, even in those who are not overweight.

The impact of insulin resistance on reproductive health

High insulin levels can lead to increased androgen (male hormone) production, further affecting reproductive health. This hormonal imbalance can make it difficult for a pregnancy to be sustained, especially in the early weeks, which may result in miscarriage. Lab tests such as HbA1c (which reflects average blood sugar levels over time) and fasting insulin levels can help identify at-risk women. Even subtle elevations in these markers, including those within the upper-normal range, can indicate underlying metabolic dysfunction that may increase the chances of miscarriage.

What to do?

Pregnant women should opt for regular screening, manage blood sugar levels, eat a balanced diet, and exercise daily before planning pregnancy. Even during pregnancy, they should stay in touch with an expert who can guide them throughout the process.