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 recent launch of the indigenous Td vaccine in India by Union Health Minister JP Nadda will boost immunity and reduce the risk of tetanus and diphtheria in children and adults, said health experts.

Union Health Minister JP Nadda formally launched the indigenously manufactured Td vaccine in Himachal Pradesh last week.

With the launch, the Tetanus Toxoid (TT) vaccine has been replaced with the Tetanus and adult diphtheria (Td) vaccine in India’s immunization program for all age groups, including pregnant women.

The move comes amid increasing numbers of cases of diphtheria amongst older age groups. Tetanus and diphtheria can lead to hospitalizations or even cause death. The Td vaccine will help to decrease diphtheria outbreaks.

“In keeping with global practice, India has shifted from TT, which covers for tetanus, to Td, which covers for both tetanus and diphtheria. This vaccine is indigenously manufactured and is expected to significantly reduce the risk of both these diseases in older children as well as adults,” Dr. Rajeev Jayadevan, Ex-President of IMA Cochin and Convener of the Research Cell, Kerala, told HealthandMe.

What Is The Td Vaccine?

The Td vaccine, indigenously manufactured at the Central Research Institute (CRI), Kasauli in Himachal Pradesh, is a combination of tetanus and diphtheria with a lower concentration of diphtheria antigen (d), and is recommended for older children and adults.

The use of Td, instead of TT, is recommended during pregnancy to protect against maternal and neonatal tetanus and diphtheria during prenatal care.

Vaccination during pregnancy also serves to boost immunity and increase the duration of protection in pregnant women who have not received the full set of recommended booster doses.

The Td is a safe vaccine, and 133 countries are currently using it.

The Health Ministry, in a statement, said that the Central Research Institute will supply 55 lakh doses to the UIP by April 2026, with production expected to scale up progressively in subsequent years to further strengthen the Universal Immunization Program in India.

“India’s indigenous Td vaccine rollout marks a significant milestone in strengthening the nation’s immunization program by enhancing self-reliance, affordability, and supply stability,” Dr. Neha Rastogi, Senior Consultant - Infectious Diseases, Fortis Gurugram, told HealthandMe.

“Locally produced vaccines reduce dependency on imports, ensuring uninterrupted protection for adolescents and adults against tetanus and diphtheria. This initiative supports wider coverage, faster distribution to remote regions, and improved public health preparedness,” she added.

Tetanus And Diphtheria: Disease burden In India

As per the National Health Profile 2022, India has reported 1,586 cases and 22 deaths due to diphtheria in 2020, and 3,677 cases and 47 deaths in 2021.

Around 10 Indian states report the majority (84 per cent) of the cases.

As of 21 June 2024, Orissa has also reported six deaths and 21 suspected diphtheria cases. There has been more than 90 percent coverage of diphtheria vaccination in birth cohorts since 2014, but gaps in booster dose coverage are widely prevalent.

Plugging of gaps in the routine immunization, coupled with inclusion of booster doses in the national data on diphtheria vaccination, is the need of the hour.

“Diphtheria is one of the most dangerous infectious diseases known to man; it spreads easily through the respiratory route. It can cause death due to the bacterial toxin affecting the heart (Myocarditis). It is vaccine-preventable, but the immunity fades over time,” Dr. Jayadevan said.

Therefore, the Td booster shots at ages 10 and 16 are essential to maintain protection. Similarly, pregnant women should receive two doses to protect both mother and child.

Given the recent outbreaks of diphtheria in India and elsewhere, this transition is a public health priority, the expert said.

Cardiovascular emergencies remain among the most time-critical and life-threatening events in modern medicine. From sudden cardiac arrest to acute coronary syndromes and hypertensive crises, these conditions demand not only clinical excellence but also seamless systems of care. In an era where cardiovascular disease continues to dominate global mortality charts, preparedness is imperative.

Understanding Cardiovascular Emergencies

Cardiovascular emergencies encompass a spectrum of acute conditions that compromise cardiac output, coronary perfusion, or vascular integrity. These include myocardial infarction, cardiac arrhythmias, acute heart failure, aortic dissection, pulmonary embolism and cardiogenic shock. What unites them is speed: the window between reversible injury and irreversible damage is often measured in minutes.

Timely recognition of symptoms like chest pain, breathlessness, syncope, palpitations or sudden neurological deficits can dramatically alter outcomes. Delays, even minor ones, translate into myocardial loss, cerebral injury or death.

Acute Coronary Syndromes

Acute coronary syndromes (ACS) remain the cornerstone of cardiovascular emergencies. Plaque rupture and thrombosis can abruptly occlude coronary arteries, leading to unstable angina or myocardial infarction. Early electrocardiographic evaluation and cardiac biomarker guide diagnosis, but decisive action is paramount.

Rapid reperfusion, whether via thrombolysis or primary percutaneous coronary intervention, restores blood flow and salvages myocardium. Modern emergency cardiac care prioritises well-rehearsed protocols, ensuring that “door-to-balloon” times are aggressively minimised. In cardiovascular emergencies, hesitation is the enemy of survival.

When the Heart Loses Its Rhythm: Arrhythmias and Cardiac Arrest

Sudden cardiac arrest, often precipitated by malignant arrhythmias such as ventricular fibrillation or ventricular tachycardia, is the most dramatic cardiovascular emergency. Survival hinges on immediate cardiopulmonary resuscitation (CPR) and early defibrillation.

Equally dangerous are unstable bradyarrhythmias and supraventricular tachycardias, which can compromise haemodynamics within moments. Advanced cardiac life support protocols, continuous monitoring, and access to defibrillation and pacing are non-negotiable components of any emergency-ready healthcare facility.

Hypertensive and Aortic Emergencies

Hypertensive emergencies occur when severely elevated blood pressure causes acute target-organ damage, affecting the brain, heart, kidneys, or eyes. Stroke, acute left ventricular failure, and myocardial ischaemia are common and devastating consequences.

Aortic dissection, though less common, is among the deadliest cardiovascular catastrophes. Sudden tearing chest or back pain, pulse deficits, and blood pressure differentials demand immediate imaging and surgical consultation. Here, precision in diagnosis and blood pressure control can mean the difference between life and sudden death.

The System Behind The Save: Integrated Emergency Cardiac Care

Effective management of cardiovascular emergencies extends beyond individual expertise. It relies on an integrated ecosystem, trained emergency teams, rapid diagnostics, catheterisation laboratories, cardiac intensive care units, and post-event rehabilitation.

Hospitals that invest in protocol-driven care pathways, continuous staff training, and advanced cardiac technology consistently achieve superior outcomes. Equally vital is public awareness: early symptom recognition and prompt presentation to medical facilities significantly reduce mortality.

Preparedness Is The New Prevention

While prevention remains the long-term strategy against cardiovascular disease, preparedness defines survival during emergencies. From ambulance services equipped with defibrillators to hospitals offering round-the-clock cardiac intervention, readiness saves lives.

Cardiovascular emergencies do not announce themselves politely. They arrive uninvited, escalate rapidly, and punish complacency. In these moments, excellence is measured not in intent but in response.

Kidney disease rarely announces itself loudly. Many people discover it only after significant damage has already occurred. According to Dr Mitesh Makwana, Consultant Nephrology at Manipal Hospital, who wrote in The Week one often overlooked factor is gender. Biology, hormones, social behavior and access to healthcare all influence how kidney disease develops, progresses and is treated.

Globally, research published in The Lancet and the International Society of Nephrology estimates that chronic kidney disease affects roughly 1 in 10 adults. Yet the pattern is not the same in men and women.

Biology And Hormones Shape Risk Differently

Although kidneys perform identical functions in both sexes, the way they age and respond to stress differs.

Dr Makwana explains that estrogen in women appears to protect kidney filtration units by reducing inflammation and scarring. Testosterone, on the other hand, increases activity of the renin angiotensin aldosterone system, which raises blood pressure inside the kidney and increases protein leakage in urine.

This partly explains a common observation in nephrology clinics. Women develop chronic kidney disease more frequently, but men tend to reach kidney failure faster.

A large European CKD registry analysis has shown that men progress to end stage kidney disease nearly 1.5 times faster than women once damage begins.

Certain conditions are also gender linked:

Women: lupus nephritis, recurrent urinary infections, pregnancy related kidney injury

Men: IgA nephropathy, polycystic kidney disease, hypertension related kidney damage

Pregnancy adds another unique risk. Preeclampsia, gestational diabetes and severe hypertension can permanently damage kidneys. Women who already have protein in urine face higher chances of fetal growth restriction and pregnancy complications.

Infections And Anatomy Matter

Women experience urinary tract infections far more frequently because the urethra is shorter and closer to the anal canal. Repeated infections can gradually scar the kidneys.

However, when infections occur in men, they are often detected late and tend to be more severe. Clinically, men with untreated infections are more likely to present with advanced kidney damage.

Lifestyle Differences Affect Diagnosis Timing

Lifestyle habits significantly influence outcomes.

Dr Makwana notes that men commonly delay health checkups, smoke more and consume higher amounts of alcohol. This increases risk factors like high blood pressure and diabetes, the two leading causes of kidney failure worldwide.

Women face a different challenge. Many prioritize family health over their own and ignore fatigue or swelling until daily functioning is affected. Studies from rural India have also shown that anaemia and malnutrition during pregnancy increase the risk of acute kidney injury in women.

Despite different behaviors, both groups often reach hospitals late, missing the window for early treatment.

Chronic Diseases Behave Differently In Men And Women

Diabetes and hypertension account for nearly 70 per cent of kidney failure cases globally, according to the Global Burden of Disease study. But progression varies.

Women often show mild or borderline abnormalities in early tests, delaying diagnosis. Men experience faster decline once disease begins, making early monitoring critical.

This is why nephrologists stress gender sensitive screening rather than a one size fits all approach.

Treatment Gap And Transplant Imbalance

Gender differences continue even after diagnosis.

Across many countries, women donate kidneys more often but receive fewer transplants. Social factors, economic dependency and delayed referrals contribute to this imbalance.

Women are also less likely to start dialysis early and more prone to complications such as low blood pressure during sessions due to vascular access challenges.

Why Early Screening Matters

Kidney disease is preventable or controllable when detected early. Screening becomes especially important for:

• diabetics
• hypertensive patients
• pregnant women with high blood pressure
• people with family history of kidney disease

Simple urine and blood tests can prevent dialysis or transplant in many cases.