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.”

Higher temperatures in the US could increase heat-related heart disease by 200 per cent by 2050, according to an alarming study.

The research, published in JAMA Cardiology, predicts rising temperatures driven by climate change will dramatically increase heat-related heart disease in the US.

It is already known that extreme heat is detrimental to heart health and can potentially trigger heart attacks and other cardiovascular events.

"But this study is the first to map out exactly how bad the problem could get—county by county, across the US. It also highlighted how states with lower median household incomes are likely to face higher heat-related heart disease burden," said Gokul Parameswaran, research associate at the Case Western Reserve School of Medicine's Cardiovascular Research Institute and the study's lead author.

Regional Hot Spots

Researchers analyzed heart disease data in each county in the contiguous US from 2010 to 2016 to develop projections through 2050.

They found that the Pacific Northwest has the highest heat-related heart disease rate in the country. Southern states, however, are projected to see the steepest increases by 2050.

"Climate change is not just an environmental issue—it is a health equity crisis, and prioritizing vulnerable communities must be at the center of any heat mitigation strategy," said Salil Deo, associate professor in the Department of Surgery.

Also read: Global Temperatures Likely To Stay Near Record Levels For Next Five Years: WMO

The study also found that aging — independent of temperature increases — will contribute an additional 34 per cent increase in heat-related heart disease by 2050, simply because there will be more older adults by then.

Heat Events In The US

The study comes amidst more frequent heat events in the US, which is also lasting longer, and the temperatures during heat events are going up.

The past 10 years, from 2015 to 2024, were the hottest on record globally. But in cities across the United States, the average rate of extreme heat events increased from two per year in the 1960s to 10 per year between 2010 and 2020, according to Center for Climate and Energy Solutions (C2ES), a Washington-based NGO.

Also Read:‘Heat Dome’ Triggering Record-Breaking May Temperatures In France, UK, Spain

Additionally, as of 2024, the average length of heat-wave season in the US has increased by 46 days since the 1960s.

How Does Heat Raise Heart Risks?

According to the Centers for Disease Control and Prevention, when temperatures rise, the heart must work harder to keep the body cool, and the likelihood of developing sudden clots in the bloodstream increases.

Read More: Can Extreme Heat Trigger Heart Palpitations? Expert Explains Risks

This extra stress on the heart due to high heat may lead to heart attacks or sudden worsening of heart disease, especially in the elderly or those with prior heart conditions.

How To Tackle The Risk

• Expanding green spaces and tree cover in urban areas could help reduce temperature-related adverse effects.
• Expanding access to cooling centers and air-conditioning assistance programs for low-income communities can also help bridge the gap in underserved communities.

"Climate change is not a distant, abstract threat," said Sanjay Rajagopalan, director of the Cardiovascular Research Institute and chief of Cardiovascular Medicine at University Hospitals Harrington Heart & Vascular Institute.

"It is a present and growing danger to the hearts of every American, and it is coming for the most vulnerable among us first. The choices made today about greenhouse gas emissions, urban planning, and health care policy will determine whether tens of thousands of Americans live or die from heat-related heart disease by 2050," he added.

Multiple Sclerosis (MS) is a chronic neurological condition in which the immune system attacks the central nervous system, leading to symptoms such as fatigue, chronic pain, bladder disturbances, gait imbalance, and blurry vision, among others. These symptoms fluctuate, progress over time, become life-limiting, and are not always outwardly visible.

Growing evidence shows that early diagnosis and timely initiation of high-efficacy therapies (HETs) can slow disease progression, reduce relapses, and preserve long-term neurological function. For many individuals living with MS, the struggle goes beyond simply managing their condition. It is also about whether the full impact of the disease is adequately recognized and understood by policymakers, healthcare systems, and the public at large.

Although MS is recognized as a disability under the Rights of Persons with Disabilities (RPwD) Act, 2016, people living with MS (PwMS) continue to face difficulties accessing disability-related support because their symptoms are not always consistent, visible, or measurable during assessment. This is particularly relevant in a condition like MS, where some of the most disabling symptoms remain invisible.

Living with an Unseen Disability

The effects of MS extend far beyond mobility issues alone. Fatigue, brain fog, memory problems, neuropathic pain, bladder dysfunction, visual disturbances, and emotional strain can significantly hinder a person's ability to work, engage socially, manage responsibilities, and fully participate in everyday activities.

One of the less understood aspects of MS is cognitive impairment, which affects a significant proportion of PwMS. MS causes inflammation in the brain and contributes to brain volume loss, thereby slowing processing speed, affecting concentration, impairing memory, and making planning or multitasking increasingly difficult. Even routine activities such as maintaining conversations, remembering instructions, or completing everyday tasks may become mentally exhausting.

Because many of these symptoms are episodic, variable, or invisible, PwMS may sometimes delay seeking specialist care, while the impact of the disease may also be underestimated by those around them. Yet, MS disease activity can continue even when symptoms appear intermittent or mild.

In MS, treatment decisions regarding the early initiation of the appropriate therapy (platform disease-modifying therapy versus high-efficacy therapy) can meaningfully influence long-term outcomes and quality of life.

Because slowing disease progression often requires highly potent intervention, evaluating a drug’s long-term safety profile becomes just as critical as its efficacy. Certain therapies may carry a risk of progressive multifocal leukoencephalopathy (PML)—a rare and potentially fatal viral brain infection that occurs under severe immunosuppression. Therefore, choosing a high-efficacy treatment with a favorable long-term safety profile is paramount.

When Clinical Reality and Functional Recognition Diverge

MS is inherently unpredictable. A person may appear physically stable during one evaluation but experience significant neurological difficulties during a relapse or disease flare-up.

In clinical practice, neurologists evaluate MS through disease progression, relapse patterns, imaging findings, and the EDSS scale (a standardized method used to quantify and measure the level of disability in PwMS).

Looking Ahead

Improving understanding of invisible symptoms in MS is important not only for social awareness but also for enabling patients to access timely care. Greater clarity, consistency, and sensitivity in approaches to chronic neurological conditions can help ensure that PwMS are better supported across healthcare, workplace, and social settings.

Earlier diagnosis, timely intervention, and stronger recognition of the day-to-day realities of living with MS can together help patients preserve dignity, maintain independence, and achieve better long-term outcomes.

Amid increasing contamination and adulteration of food products, India’s food regulator has introduced new safety standards across a wide range of foods such as besan (gram flour), edible and cold-pressed seed oils, as well as prawns.

The draft regulations by the Food Safety and Standards Authority of India (FSSAI) cover heavy metals, toxins, antibiotic residues, and quality standards for both commonly used foods and emerging edible products, the Times of India reported.

The new regulations are expected to come into force on December 1.

What Has Changed Under The New Rules?

Under the new rules, the FSSAI has:

• Expanded contamination standards related to lead and cadmium to include pulse flours such as besan and packaged mixes in addition to pulses.
• Updated limits for aflatoxins — toxic substances produced by certain fungi — in oils, oilseeds, and ready-to-eat oilseed products.
• Revised testing norms for arsenic in fish oils and updated standards for saffrole, a naturally occurring substance found in foods and beverages containing nutmeg and mace.
• Introduced residue limits for antibiotics such as trimethoprim and oxolinic acid in seafood products, including shrimps, prawns, and fishery products.

New Standards For Seed Oils And Edible Seeds

In a separate draft notification, the FSSAI proposed quality and safety standards for lesser-used edible oils made from chilli, tomato, muskmelon, and okra seeds as demand rises for cold-pressed oils, seed-based snacks, and plant-based nutrition products.

The proposed norms require these oils to remain free from adulteration, harmful impurities, rancidity, and mineral oil contamination, while also prescribing limits for moisture, acidity, and metal content.

Also read: Can Beetroot Juice Help Lower Blood Pressure?

The draft rules also cover edible seeds such as watermelon, cucumber, pumpkin, sunflower, sesame, and flaxseed sold in raw, roasted, or salted forms, requiring them to be clean and free from insects, fungus, and visible contamination before sale.

FSSAI has invited public comments on the draft regulations for 60 days before finalization.

Crackdown On Food Adulteration

In Ghaziabad, the state food regulator seized 10 quintals of suspected paneer stored in unhygienic conditions. With contamination risks high, the joint team swiftly sampled the batch and destroyed the entire 1,000 kg consignment.

In Muzaffarnagar, food safety officials inspected an ice cream outlet. The drive focused on ice creams and ice candies to ensure they met regulatory standards. A total of three legal samples were collected.

Read More: Are Mangoes Safe for Oral Cancer Patients?

How Adulterated Foods Can Affect Your Health?

The FSSAI noted that hidden adulterants in everyday food can create serious concerns for consumers.

Food adulteration happens when there is an intentional addition of foreign or inferior substances to original food products.

A 2024 study published in SAGE Open Medicine noted various health impacts of adulterated food, including:

• Cancer
• Lathyrism
• Liver disease
• Cardiac failure
• Kidney disease
• Nervous system-related diseases

The study also noted that adulteration could lead to allergic reactions. Pregnant women, children, and the elderly are more prone to developing illnesses if adulterated food is consumed.