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.”

Millions of Indians are increasingly turning to mental health apps to manage stress, anxiety, loneliness, and other emotional challenges. These digital platforms offer a range of services, from mood tracking and mindfulness exercises to AI-powered chatbots designed to provide conversational support that can feel similar to therapy.

The growing adoption of such apps comes amid a significant shortage of mental health professionals in India. Data from the National Mental Health Survey indicate that nearly one in ten Indian adults lives with a diagnosable mental health disorder, while more than 85 percent of people with depression do not receive adequate treatment. Other studies have also highlighted a large gap between the demand for mental healthcare services and the availability of trained psychiatrists, psychologists, and counselors, particularly in rural and underserved regions.

Against this backdrop, mental health apps position themselves as a convenient and relatively affordable way to access support anytime and from anywhere. However, researchers and mental health experts caution that the rapid rise of these platforms has also sparked concerns about data privacy, the clinical effectiveness of digital interventions, and the level of oversight and accountability surrounding AI-driven mental health tools. While some studies suggest that digital mental health programs can help reduce symptoms of anxiety and depression, experts emphasize that they should complement—not replace—professional care, especially for individuals with moderate to severe mental health conditions.

Also Read: India's Maternal Mortality Ratio Drops From 130 To 87 In Last 10 Years: Govt

How Mental Disorders Are Impacting Life Worldwide?

Mental disorders are on the rise worldwide, and nearly 1.2 billion lives are now affected by them. A recent study published in The Lancet has revealed this very crucial trend. The study was conducted by researchers at the Institute for Health Metrics and Evaluation (IHME) in collaboration with the University of Queensland.

This study shows that the number of people affected by the mental disorder has almost doubled since 1990. It also emphasizes the role of mental disorder in the case of disability, as the research suggests that it has crossed cardiovascular disease, cancer, and musculoskeletal conditions, leading to disability. Notably, the study has revealed that mental disorders affect people of different sexes and ages disproportionately.

The research was done on a massive scale from 1990 to 2023. The researchers studied the impact of mental disorder on both sexes, in 25 age groups, 21 regions, and 204 countries and territories.

Over the years, mental disorders have caused more and more mayhem in people's lives. Disability adjusted life years (DALYs) show the very impact of mental disorders on life. DALYs measure the health loss. It calculates the years lived with disability and years of life lost due to premature death.

According to this very measuring system, we can see that the mental disorder and its impact on overall life reached another zenith in 2023. That year, mental disorders alone caused 171 million disability adjusted life years (DALYs). This made mental disorder the fifth biggest contributor to total disease burden. Notably, in 2023, mental disorders had a 17 percent share of total life lost due to disability throughout the world.

Currently, there is a spike in cases of women being diagnosed with clotting factor deficiency, a condition where the blood does not clot properly. Many women aren’t aware of this and tend to dismiss it as routine menstrual concerns. While not always widely discussed, this condition can lead to serious health risks if not identified early. Hence, women should be more attentive and consult the doctor when they notice unusual bleeding patterns and improve their overall well-being.

What is Von Willebrand Disease?

One of the most common yet underdiagnosed conditions in women is von Willebrand disease. So, it is a genetic disorder that affects the blood’s ability to clot. Some women present as carriers of hemophilia or develop clotting issues due to liver disease, infections, hormonal imbalance, or nutritional deficiencies such as low vitamin K. Hence, women should pay utmost attention to their health.

What are the symptoms of VWD?

VWD is a common inherited bleeding disorder, and it occurs when there is a dysfunctional blood protein that does not let platelets clump together to form clots. Because it adversely affects the blood's ability to clot, it causes mucosal bleeding. In mild cases, the symptoms may not be there, but in other cases, the symptoms are the following:

1. Prolonged and frequent nosebleeds
2. Excessive bleeding after minor cuts
3. Easy bruising
4. Large and lumpy bruises
5. Spontaneous bleeding in the joints

What are the types of VWD?

VWD is classified in three categories based on the nature and severity of the defect:

1. Type 1: Mildest form with mild bleeding symptoms
2. Type 2: Mild to moderate bleeding
3. Type 3: Rare and severe, leading to serious bleeding problems

VWD is largely genetic, and the most extreme form—type 3—occurs when a faulty gene is inherited from both parents. For treatment, doctors recommend hormonal therapy like IUDs or birth control pills to manage heavy period bleeding.

“Clotting factor deficiency is seen when the body lacks certain proteins needed to stop bleeding. In women, this may be a genetic condition, such as hemophilia carriers or other inherited bleeding disorders. They can experience clotting factor deficiency because of liver problems, infections, hormonal imbalances, or nutritional deficiencies like low vitamin K levels. Women avoid the symptoms like bleeding gums, heavy period bleeding, and other issues, assuming that the symptoms with get better. However, prolonged bleeding is also reported by women, especially after gynaecological procedures like childbirth," Dr. Padma Srivastava, Senior Consultant Obstetrician & Gynaecologist, Motherhood Hospitals, Lullanagar, Pune, said in an interview with Health and Me.

Dr. Padma further added, “Around 2–3 women aged 50-60 are reporting every week. However, delayed recognition remains a major challenge, as many women tend to ignore symptoms or delay seeking medical advice. Management of this condition involves clotting factor replacement therapy, medications to control bleeding, and regular monitoring. With proper care, most women can lead healthy and active lives.”

Changing lifestyles, career priorities, financial planning, and personal choices are leading many couples to marry later than before. While late marriages are becoming increasingly common, fertility specialists are observing a parallel rise in delayed pregnancy planning and age-related fertility complications. Many couples now begin trying to conceive only after the age of 35, when fertility in both men and women naturally starts declining.

Currently, there is a growing trend of late marriages due to career priorities, financial stability goals, higher education, and changing lifestyle choices. Many couples are choosing to settle professionally and personally before planning a family. However, this delay can also lead to postponed pregnancy planning, often at a stage when fertility naturally starts declining. Increasing stress, underlying medical conditions, and lack of fertility awareness are further contributing to challenges in conception among couples in their mid to late thirties.

What are the complications that can occur in a pregnancy after turning 35?

“The increasing trend of late marriages (30–35+) is directly leading to delayed pregnancy planning. Most couples start trying to conceive after 35, when fertility has already begun to decline significantly. By the time many patients seek medical help between 36 and 39 years, several are diagnosed with low ovarian reserve (low AMH) or conditions such as oligoasthenoteratozoospermia (OAT) and azoospermia.

Lack of early fertility awareness often causes women to miss the window for timely intervention or fertility preservation options like egg freezing. Advanced maternal age pregnancies (40+) are steadily rising and are often associated with complex complications and lower treatment success rates. Currently, nearly 75% of fertility patients are above 35 years of age, while 25% are above 40. Only around 20% of patients are in their late 20s,” said Dr. Jyotshana Palgamkar, Fertility Specialist, Nova IVF Fertility, Virar.

Dr Jyotshna further added, “One of the biggest concerns linked to late pregnancy planning is reduced ovarian reserve in women. By the time many women seek medical help between the ages of 36 and 39, their anti-Müllerian hormone (AMH) levels, which indicate egg reserve, may already be low. This reduces the chances of natural conception and can also affect the success rates of fertility treatments. Male fertility is also being affected. A large number of men are diagnosed with oligoasthenoteratozoospermia (OAT), a condition in which sperm count, motility, and morphology are affected.

Consequences of delayed fertility evaluation

Delayed fertility evaluation often means that couples lose valuable time before beginning treatment or considering assisted reproductive options. Another major challenge is the lack of awareness about fertility preservation. Many women remain unaware that egg freezing at a younger age may help preserve fertility for the future. By the time they start exploring fertility options in their late thirties or forties, treatment becomes more complex and emotionally stressful. Advanced maternal age pregnancies, especially above 40, are also increasing. These pregnancies are often associated with lower conception rates, higher miscarriage risk, pregnancy complications, and reduced IVF success rates,” Dr Jyotshna explained.

Male fertility treatment options depend on the underlying cause of infertility and may include lifestyle changes, medications, hormonal therapy, or surgical procedures. “Conditions such as low sperm count, poor sperm motility, abnormal morphology, raised DNA fragmentation index (DFI) affecting sperm quality, varicocele, or azoospermia can often be managed with timely medical intervention. Assisted reproductive techniques like IUI, IVF, and ICSI are also commonly used to improve the chances of conception. Early diagnosis and proper fertility evaluation play an important role in selecting the most effective treatment option for men,” said Dr Palgamkar.

Understanding fertility timelines, seeking timely evaluation, and discussing preservation options early can help couples make informed decisions and improve their chances of successful parenthood in the future.