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.”

World Zoonoses Day is being observed today amid growing concerns over the rising threat of zoonotic diseases such as Ebola, Marburg and Nipah. More than 60% of human pathogens are zoonotic, while nearly 75% of emerging infectious diseases originate in animals.

According to the International Society for Infectious Diseases (ISID), spillover events—where pathogens jump from animals to humans—have tripled since the 1980s, fueled by deforestation, wildlife trade, industrial farming and climate change.

In an interview with HealthandMe, Dr Nivedita Gupta, Scientist and Head of the Communicable Diseases Division at the Indian Council of Medical Research (ICMR), outlined the key measures policymakers should prioritize to reduce the risk of future pandemics and strengthen global health security.

Dr Gupta stressed that preventing the next pandemic requires a proactive approach built on integrated surveillance, coordinated data sharing, community participation and stronger indigenous research and development.

Strengthening Surveillance

According to Dr Gupta, the first priority should be strengthening surveillance across all sectors—across humans, animals and the environment.

"I think first part is that surveillance should be strengthened in all domains, whether it is human surveillance, animal surveillance, wildlife surveillance, as well as environmental surveillance. So, we really need to do integrated surveillance and strengthen all aspects."

She said early detection is critical to identifying emerging pathogens before they become larger public health threats.

"Unless we are able to detect what is happening at various interfaces, we will never come to know that a certain pathogen or a disease is emerging."

Also read: World Zoonoses Day 2026: Next Pandemic Very Likely, And The World Is Still Underprepared, Says WHO Scientist

Human And Animal Health Data

The second major priority, she said, is ensuring that surveillance data across sectors is connected.

"If I'm seeing unusual bird or animal deaths, if I'm sitting in human sector, I should also know about it and I should be able to act very timely to understand whether there are any implications on humans and vice versa."

Dr Gupta said data from human, animal and wildlife surveillance systems should "talk to each other" to detect zoonotic diseases at an early stage.

She also highlighted the importance of recognizing reverse zoonosis.

"It's not only that we get infections from animals, birds, and wildlife, but animals also get infected from humans. So, that is known as reverse zoonosis. So, it is both ways."

According to her, anything occurring in the human sector should raise equal alarm in the non-human sectors, and vice versa.

Communities Should Become 'Eyes And Ears'

Also read: Natural Origin or Lab Leak? Gabbard Reignites COVID Origins Debate, Claims Fauci Funded Wuhan Lab Research

Dr Gupta said community participation is another critical pillar of pandemic preparedness.

"I think we really need massive community sensitization. And community should be our eyes and ears because there are many people who live in remote areas, who live in forest fringes, and they might be seeing many unusual things happening like sudden deaths among animals, carcasses."

She noted that there is currently no system to help people recognize unusual events or report them to the authorities.

"I think those systems wherein our community can be our eyes and ears is something that we really need to develop in our country so that any unusual occurrence which happens within domestic animals or forest fringes or in birds or poultry farms can be immediately reported to the relevant authorities and a timely action can be taken."

Strengthen Indigenous R&D

Dr Gupta also stressed the need to strengthen the research ecosystem and also work in collaboration with the industry. She said academia and industry currently work in separate silos, making it difficult to rapidly translate research into products.

It is important "to align academia and industry so that industry gets ready-made products which align with the priorities of the country."

The expert added that stronger industry-academia partnerships would help develop products that serve national priorities.

What Can Individuals Do?

On the role of citizens, Dr Gupta said individuals can contribute by reporting unusual events involving animals or wildlife.

"If I see any unusual thing happening in my domestic settings or around me or if I'm a person residing at forest fringes or in bird sanctuaries, I see unusual deaths, I should be able to report them."

However, she pointed out that governments must first establish a reporting mechanism. "So, currently, even if I want to report today, I don't know where to go."

She said people need to be informed about what constitutes an unusual event and how to report it.

"I think that community sensitization telling them what is unusual, what has to be taken up with a pinch of salt, what has to be reported to the authorities really needs to be told to the people of the country so that they start reporting and they become our sentinels."

Mumbaikars are currently being forced to wade through waterlogged streets, as the city has been receiving heavy rainfall for the last few days.

Floodwater often gets mixed with harmful contaminants like animal waste, animal feces, waste from human settlements, industrial pollutants, and harmful microorganisms, which can lead to serious monsoon infections.

Also Read: Vagus Nerve Implant Shows Promise for Lasting Relief in Treatment-Resistant Depression: Study

Here’s how one can stay safe after getting exposed to floodwater:

Precautionary Measures After Walking Through Floodwater

HealthandMe spoke to Dr. Murtaza S Bagwala, Head of Emergency Medical Services, Saifee Hospital, Mumbai, about how to keep infections at bay after coming in contact with filthy floodwater.

Pay Close Attention To Your Feet And Legs, Even If They Don't Hurt

When you are in floodwater, there may be sharp objects like broken glass, nails, stones and metal debris around you. You are more likely to come in contact with these objects unintentionally.

Dr. Bagwala recommends, “Small cuts, blisters, or punctures may not be noticed but can lead to infection if bacteria get into the skin. If you see any injury, clean it well, brush on antiseptics and consult a doctor for advice if the wound is deep or dirty.”

Also read: World Zoonoses Day 2026: Monsoon Season And The Rise Of Zoonotic Diseases

Don't Overlook Body Aches Or Fever In The Following Days

As the risk of contracting infections is high during monsoon, do not neglect if you develop flu-like symptoms after coming in contact with contaminated floodwater. The expert warns against dangerous monsoon infections like leptospirosis.

He says, “After contact with water contaminated with the urine of an infected animal (usually a rodent), the early symptoms of leptospirosis may include fever, severe muscle pain, headache, vomiting, chills, or redness of the eyes. The symptoms are very similar to those of a viral disease, so prompt medical evaluation is crucial to avoid complications, such as kidney, liver, or lung involvement.”

Don't Ignore Skin Changes

The doctor also says that if your skin’s colour or texture changes after getting exposed to floodwater, do not ignore it. He says that if the area around the feet or legs becomes red, swollen, painful, warm, discharges pus or the itching persists, it should be treated immediately.

These can be signs of bacterial or fungal infections that need to be treated, especially in individuals with diabetes, poor blood flow, or impaired immune function.

Also read: Leptospirosis In Monsoon: Expert Explains Why Early Detection & Prevention Is A Must

Determine If Your Tetanus Shots Are Updated

As you can get cuts and bruises after walking through floodwater, it is important to stay on top of your tetanus shots.

The expert advises, “Seek health care advice if you have a cut or puncture wound, particularly from a sharp object that was submerged in the water, while walking through the water. Early management of wounds can help avoid complications."

Take Precautions When Eating Or Drinking After Exposure

You are also at risk of contracting gastrointestinal infections after coming in contact with floodwater. Contaminated water may enter your mouth and lead to stomach and intestinal infections or may contact food and lead to food poisoning.

Prevent diarrhoea, vomiting and dehydration by drinking only clean, safe water, eating only freshly prepared food and practicing good hand hygiene before eating.

India has approximately 101 million people living with diabetes, one of the largest such populations in the world. Blood sugar levels, HbA1c targets, and medication compliance tend to dominate the clinical conversation around the condition. What receives considerably less attention, from both doctors and patients, is what diabetes does to the feet, and what the consequences of that neglect look like over time.

How Diabetic Foot Ulcers Develop

Diabetic foot ulcers develop when nerve damage caused by prolonged high blood sugar, referred to as diabetic neuropathy, reduces sensation in the feet. A small cut, blister, or pressure sore that a person without neuropathy would notice and address goes unfelt. In the absence of pain as a warning signal, the injury progresses. Infection sets in. By the time the patient presents for medical attention, the wound has often reached a stage where conservative management is no longer sufficient.

The High Cost of Delayed Treatment

The clinical outcomes associated with delayed presentation are sobering. A 2024 study published in Diabetes and Metabolic Syndrome, drawing on real-world data from a tertiary care facility in India, found that amputation was required in 43.4 percent of diabetic foot ulcer patients. Ten-year mortality among those who underwent amputation reached 30.9 percent, compared to 24.5 percent among those who achieved primary healing.

A 2025 cross-sectional study published in Cureus found a significant disparity in mortality rates between individuals with diabetic foot ulcers and those with diabetes alone, at 231 deaths per 1,000 person-years compared to 182. Globally, 18.6 million individuals develop diabetic foot ulcers annually.

Prevention Requires Daily Foot Care

The gap between the clinical evidence on diabetic foot complications and the attention the condition receives in routine diabetes management is where the preventable harm accumulates. Most patients presenting with advanced diabetic foot disease describe a history of minor symptoms that were attributed to something else, ignored, or left unaddressed because they were painless.

Regular foot inspection, appropriate footwear, avoidance of barefoot walking, and early medical review of even minor foot injuries are the practices that interrupt this progression before it reaches the point of irreversibility. Dedicated foot care clinics are built around exactly this philosophy, bringing together the multidisciplinary expertise needed to catch complications early and treat them before the window for limb salvage closes.

Why Multidisciplinary Care Matters

Eastern India carries a significant share of this burden, with patients across West Bengal, Bihar, Odisha, Jharkhand, and the Northeast frequently facing limited access to the multidisciplinary care that diabetic foot management requires. Diabetologists, vascular specialists, wound care experts, reconstructive surgeons, and rehabilitation teams working in coordination produce outcomes that sequential, single-specialty care cannot consistently achieve. Where such integrated care is available and accessed early, limb salvage rates improve, and amputations are reduced.

The Ministry of Health and Family Welfare’s recent advisory on diabetic foot care reinforces that foot health in diabetes management warrants systematic attention, not as an afterthought to glycemic control, but alongside it.

(Dr. Anupam Golash, Consultant - Plastic Reconstructive Surgery, CK Birla Hospitals, CMRI)