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.”

India holds the record for the highest number of blind individuals in the entire world. The impact that the fact can have on those who hear it should be enough to cause them to stop dead in their tracks. The fact that it is preventable makes it all the more problematic, more than just a number. According to experts from AIIMS, New Delhi, more than 85% of blindness is preventable in the country, and not due to an incurable disease or insurmountable genetic condition.

The overwhelming majority of instances of blindness in India are due to a lack of glasses, or could be prevented by a surgical procedure lasting approximately 20 minutes. And yet, we are left with millions of blind people.

What Is Preventable Blindness?

Preventable blindness refers to vision loss that could have been avoided through timely screening, treatment, correction, or surgical intervention. It is not the same as blindness caused by trauma, hereditary disorders, or conditions beyond medical reach.

The leading culprits in India are well-documented: cataract is responsible for 66.2% of all blindness cases, uncorrected refractive errors for 18.6%, glaucoma for 6.7%, and diabetic retinopathy for 3.3%. Every single one of these is either treatable or manageable with early detection.

Cataracts can be reversed in under thirty minutes. Refractive error can be corrected with spectacles that cost less than a meal at a restaurant. Diabetic retinopathy, if caught early, can be treated before it takes vision at all.

The tragedy of preventable blindness is not medical. It is systemic.

The Scale Of The Problem In India

India carries one of the heaviest burdens of vision loss in the world, and the weight is only growing. There are disparities regarding the burden of vision loss. There are about 75% of the resources and health infrastructure that are found in urban locations whereas there are only 27% of the population and most of the hundreds of millions of people living in rural India do not have access to see an eye doctor because they would need to take a day off work without pay, travel over one hundred kilometers, and pay for the office bill in cash out-of-pocket.

Most people do not try to see an eye doctor, and when they do, it is usually too late to treat the problem.

At the same time, the problem has been exacerbated by the rapidly aging population of India and the incidence of age-related disorders increasing, such as cataracts and the diabetes epidemic, which is one of the largest in the world, has been causing a massive increase in diabetic retinopathy, which will cause continuing loss of vision without proper detection. These are not isolated cases but rather a direct result of the failure of the health care system in India to keep pace with the growing number of diseases in the population.

What Can Be Done?

On the infrastructure side, the priority must be decentralization. Eye care cannot remain a service that lives primarily in urban hospitals. Vision screening needs to be integrated into primary health centers, school programs, and community outreach camps. The private sector, which runs over 70% of all eye care institutes in India, has a role, but so does public policy in incentivizing rural postings and strengthening district-level facilities.

On the workforce side, training mid-level ophthalmic personnel, optometrists, ophthalmic nurses, and vision technicians can extend the reach of a limited specialist pool significantly. Telemedicine-assisted models, where a technician in a rural camp transmits data to a city-based specialist for review, have already shown promise and need to be mainstreamed rather than treated as pilot experiments.

Early detection is arguably the most powerful lever of all. Most people in India visit an eye doctor only after vision loss is already severe. Routine screenings, especially for:

- Adults above 40

- People living with diabetes

- School-going children

Accessing vision care is not complicated. Availability is a major factor. Vision care must also be affordable to be accessible; currently, affordability is at the bottom of the list of priorities.

Examples of initiatives that have been implemented include subsidized cataract surgeries, free glasses for school children, free glasses for senior citizens, and community insurance models for eye care. All of these have been successful with valid results, and there’s plenty of evidence available that supports all these types of programs.

India can solve this. It has the necessary eye surgeon specialists, the model of care, and the evidence needed to make this happen. The issue preventing more people from receiving care, preventing blindness, which could be avoided, has always been a lack of awareness or attention to the problem to turn a statistic into an urgent need. At some point, we need to stop asking why this is happening and start asking why we will allow it to keep happening.

Although classified as a rare disease, hemophilia in India is widespread and overlooked. According to the World Federation of Hemophilia (WFH), about 75 percent of individuals affected by hemophilia are undiagnosed across the globe, hence lack proper healthcare, which is associated with an elevated incidence of complications.

Hemophilia: The Undiagnosed Populations

In India, the gap is stark. The WFH has provided statistics that indicate that India has one of the largest hemophilia populations worldwide, with approximately 24,000 patients registered, whereas the estimated prevalence is approximately 1.2 lakhs, indicating that a large pool remains undiagnosed or outside the care pathway.

The implications of being undiagnosed or not receiving appropriate medical care are both clinical and non-clinical. Many people are losing milestones, dreams, or are otherwise negatively affected by the anxiety associated with living with an undiagnosed condition. For clinicians, this "hidden population" poses a daunting and deeply concerning challenge.

They are not missing; rather, they remain unseen due to delayed recognition, often presenting only after irreversible damage has already set in.

Hemophilia: Symptoms

Children with persistent symptoms of joint swelling, unexplained excessive bleeding after sustaining minor injuries, and other symptoms are usually diagnosed with other health conditions, like bone injuries or nutrient deficiencies.

This period of clinical ambiguity can extend for months or even years before appropriate diagnostic testing and referrals are initiated.

Joint damage is often established by the time a conclusive diagnosis is made, and may lead to reduced mobility or early deformity, chronic pain, disability, and loss of functional independence. Severe complications, including intracranial hemorrhage, continue to pose significant risks in inadequately treated patients.

Hemophilia: Importance Of Timely Diagnosis

The barriers to timely diagnosis are both clinical and systemic, ranging from limited awareness and low suspicion among primary care providers to fragmented referral pathways and frequent misdiagnosis. At the systemic level, uneven access to the diagnostic infrastructure persists.

The availability of coagulation tests and specialists is mainly limited to the tertiary settings, thus posing a problem for patients from tier 2 and tier 3 regions. It is vital to understand the costs associated with a delay in diagnosis in the context of how far hemophilia care has evolved.

Hemophilia: The Role Of Prophylaxis

Over the past decade, advances in treatment have significantly improved patient outcomes. Clinical goals are no longer limited to managing bleeds as they occur, but to preventing them altogether, making “zero bleeds” an achievable reality. This is where prophylaxis takes centre stage.

Where on-demand therapy treats hemophilia symptoms only after a bleeding episode has occurred, prophylaxis seeks to prevent bleeding completely and is considered the gold standard of care globally. It can bring about reductions in bleeds by up to 90% and maintain healthy joints, allowing children to achieve near-normal musculoskeletal development.

When initiated early, prophylaxis can prevent the onset of joint damage. However, when patients are diagnosed late, they often enter care only after irreversible complications have already occurred. This makes early identification not just important, but decisive in altering disease trajectory.

Hemophilia: Progress Is Visible

Encouragingly, progress is visible. Several Indian states have demonstrated that publicly funded hemophilia programs, including access to prophylaxis and decentralized care models, can significantly improve patient outcomes. Initiatives that integrate early patient identification, diagnostic access, and coordinated care pathways are beginning to reduce delays and expand equitable access.

These state-led efforts offer important lessons for making prophylaxis the national standard of care in India. Recognizing hemophilia early and initiating prophylaxis in time is not just a clinical goal; it is the most critical step in changing the life course of these patients.

As summertime temperatures soar and heat waves become more frequent in many areas of the United States, physicians are seeing increasing numbers of patients experiencing an acute loss of kidney function due to heat-related illness. This phenomenon, known as heat-related acute kidney injury (AKI), is especially problematic when the prolonged high temperature of summer adds stress to the human body.

Kidney Injury: Dehydration Main Culprit

The most common cause of heat-related AKI is dehydration. When the body sweats excessively due to high temperatures, it loses a significant amount of fluid. If this fluid is not replaced, the blood volume in the body decreases.

The decrease in blood volume reduces blood flow to the kidneys. Because the kidneys depend on a continuous supply of blood to filter out waste products and assist with maintaining fluid balance, any decrease in blood flow to the kidneys can affect their ability to function properly. Ultimately, if the kidneys cannot function properly, they can develop serious problems, requiring medical intervention to reverse the problem.

Kidney Injury: What Are The Symptoms? Who Is More Vulnerable?

Physicians on the ground have noted that specific population groups are more susceptible to extreme heat. Those working outdoors, such as construction workers, delivery people, and farmers, are particularly at risk because they are exposed to the sun for long periods of time. The elderly are more sensitive to heat because they have a lower ability to perceive thirst and conserve fluids than younger people. People who have pre-existing conditions such as diabetes, hypertension, and chronic kidney disease are also more likely than those without such conditions to develop complications from serious heat exposure.

An additional obstacle has been that the early signs of acute kidney injury (AKI) are often non-specific and may not be readily recognized by medical personnel. Symptoms include fatigue, dizziness, decreased urine output, nausea, and confusion; unfortunately, these types of symptoms tend to be dismissed as effects of heat exposure alone. By the time patients arrive at a medical facility for treatment, their AKI may have advanced to a more complicated state.

A further factor that may contribute to the development of AKI is the use of medications such as analgesics during the summer months. Analgesics may decrease blood flow to the kidneys; when taken during dehydration, they may further increase the risk of AKI. Therefore, it is essential to exercise caution when using medication during extreme summer heat.

Kidney Injury: Early Intervention

Timely action and awareness play a major part in improving one’s chance of developing AKI from heat exposure. Drinking enough water (the most important step) cannot happen without adequate hydration; you must not wait for the sign of thirst to drink. Avoid outdoor activity in the hottest parts of the day, wear protective clothing, and take frequent breaks to help reduce the risk of developing AKI from heat stress.

Recognizing early signs of heat-related illness and getting prompt medical attention can help prevent permanent injury to your kidneys. As heatwaves continue to occur with more frequency, understanding the relationship between heat stress and kidney function is increasingly important for reducing the number of preventable kidney-related complications.