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.”

A new study has revealed an alarming trend in stroke cases in the past three decades. Strokes have often been associated as an age-related disease. But according to a study published in Neurology, the rate of stroke among adults aged 20 to 54 has nearly doubled between 1993-94 and 2020.

Researchers examined data from the Greater Cincinnati and Northern Kentucky Stroke Study and identified 2,076 first-time strokes among people in this age group.

The rate of stroke rose from 33.9 cases per 100,000 person-years in 1993-94 to 62.2 in 2020. The increase was largely driven by ischemic stroke, which happens when a blood vessel in the brain becomes blocked.

The study points towards an alarming pattern, especially among younger age groups. It raises the question of why are strokes are occurring earlier in life?

High Blood Pressure, Diabetes And Other Risks

The researchers found that several risk factors of stroke became more common among younger people. These included lifestyle disorders like high blood pressure, diabetes and atrial fibrillation, an irregular heart rhythm that can increase the risk of blood clots.

Apart from lifestyle diseases, researchers also saw an increase in substance use. Among younger adults who had suffered a stroke, substance use rose from 4.6% in 1993-94 to 40.2% in 2020. Much of this increase was linked to marijuana use.

However, the study does not prove that these factors caused the overall rise in stroke rates. Researchers did not have comparable information from people who had not suffered a stroke, making it impossible to determine whether the changing risk factors directly explain the surge in cases.

According to the study, the increase was concentrated mainly in ischemic strokes. The rate of ischemic stroke among 20- to 54-year-olds rose from 23.8 to 47.3 cases per 100,000 person-years during the study period.

Researchers did not observe a similar increase in intracerebral haemorrhage, which involves bleeding within the brain, or subarachnoid haemorrhage, which involves bleeding around the brain.

Also read: Can A Roller Coaster Cause A Brain Bleed? What Sudden Acceleration And Deceleration Does To The Brain

What Is An Ischemic Stroke?

An ischemic stroke occurs when a blood vessel supplying part of the brain becomes blocked, cutting off oxygen and nutrients. Brain cells can start dying within minutes, which is why stroke treatment is highly time-sensitive.

The warning signs of stroke can appear suddenly. They include:

• Facial drooping
• Weakness
• Numbness in an arm or leg
• Difficulty speaking

The commonly used FAST acronym stands for Face, Arm, Speech and Time. If these symptoms appear, emergency medical care should be sought immediately.

Also read: UK Student Nearly Dies After Accidental Paracetamol Overdose: Why It Can Cause Liver Failure

More Young People Are Surviving Stroke

This is another interesting finding. Although stroke became more common among younger adults, the study found that the 30-day death rate declined modestly, from 11.7% in 1993-94 to 9.4% in 2020 after adjusting for age, race and sex.

That means more younger people may be surviving strokes but potentially living with their long-term consequences.

The researchers say the findings highlight the importance of identifying and managing stroke risk factors earlier in adulthood. More research is still required to understand what is behind the changing pattern and how it can be prevented.

A 20-year-old UK student nearly died after accidentally taking two over-the-counter medicines that both contained paracetamol.

Riley Lubas, a first-year University of Bath student, developed a bad cold in March 2025. Days later, he developed severe stomach pain and was found to have serious liver damage.

What Happened?

Doctors initially suspected hepatitis, but Riley's condition rapidly worsened. He became delirious and hallucinated as his liver began to fail. His lungs and kidneys also stopped working, leaving him in multiple organ failure.

He was placed on life support and dialysis before being transferred to King's College Hospital in London, where doctors identified the cause after asking about his paracetamol use.

"It didn't necessarily help with a solution, but it was good to know the cause at last," his father, Chris, said.

Also read: ‘Zombie’ Drug Medetomidine, Spotted In Heroin Supply, Raises Concern As It Could Evade Overdose Antidote

Riley Had To Learn To Walk And Talk Again

Riley was assessed for a liver transplant after his parents were warned that some of the damage could be "irreversible". But his liver began to recover.

"We watched Riley's situation closely for a couple of days, and he continued to improve, until he was taken off dialysis and life support just a week later."

Riley spent six weeks at King's College Hospital and later moved to an ICU in Newport. After a tracheostomy and multiple organ failure, he had to relearn how to speak and walk.

"But just seeing him up and alive again was unbelievable," his father said.

Riley has since recovered and returned to work as a bartender.

"It was mad how quickly it all escalated," he said.

"Because I was already sick, when my stomach hurt I just assumed I'd caught a stomach bug, so I didn't notice the pain in my liver specifically."

"I'm just so grateful that I was able to come out the other end alright."

Why Combining Cold And Flu Medicines Can Be Risky

Read More: Are GLP-1 Drugs Safe for Children? Study Finds Nutritional Deficiency in Nearly 17% Within a Year

Riley's case highlights the risk of taking multiple medicines without realizing they contain the same active ingredient.

Dr Will Mackintosh, a GP and chairman of RCGP Cymru Wales, said accidental paracetamol overdose in young people was "a fairly rare occurrence", but warned that people can inadvertently take two products containing paracetamol, BBC reported.

The Medicines and Healthcare products Regulatory Agency (MHRA) has warned that "simple misunderstandings" about medicines can have serious consequences, highlighting the importance of checking the ingredients beforehand.

The Royal College of General Practitioners Cymru Wales also advised people to "read the label carefully" before taking medicines.

How Much Paracetamol Is Safe?

For most adults, the usual dose is 500 mg to 1,000 mg at a time, with at least four hours between doses.

The usual maximum is 4,000 mg in 24 hours, although some people may need a lower dose because of their weight, liver or kidney problems, alcohol use or other health conditions.

The important point is to count paracetamol from all medicines, including cold and flu products.

How Can An Overdose Damage The Liver?

The liver breaks down paracetamol. When too much is taken, a toxic substance can build up and damage liver cells. Severe overdose can lead to liver failure and death.

Early symptoms may include nausea, vomiting and stomach pain, but serious poisoning may not cause obvious symptoms immediately. Later signs can include jaundice, confusion and extreme sleepiness.

What To Do After Taking Too Much

If you think you have taken too much paracetamol — including by combining medicines that contain it — seek urgent medical advice immediately.

Do not wait for symptoms. Early treatment can reduce the risk of serious liver damage.

Always check the active ingredients on painkillers and cold and flu medicines before taking them together.

Doctors at a Mumbai hospital successfully performed a complex coronary angioplasty on an elderly diabetic patient with severely calcified coronary arteries using an advanced technique called Intravascular Lithotripsy (IVL), helping restore blood flow to the heart despite multiple procedural challenges.

The patient, who had been experiencing symptoms suggestive of coronary artery disease, was found to have extensive calcium deposits in the coronary arteries. Further evaluation also revealed poor blood flow in the leg arteries, making conventional vascular access for the procedure difficult.

What Is Coronary Artery Calcification?

Coronary artery calcification is commonly seen in elderly individuals and people with long-standing diabetes. Excessive calcium makes the arteries rigid and narrow, often making routine angioplasty technically challenging and increasing the risk of incomplete stent expansion, which can affect long-term outcomes

Severely calcified coronary arteries remain one of the biggest challenges in interventional cardiology. The calcium makes the arteries extremely rigid, making it difficult to properly expand the stent. In such situations, conventional angioplasty alone may not be sufficient.

Despite the patient’s complex anatomy and poor peripheral vascular access, the team successfully performed the procedure through the radial artery in the wrist, avoiding access through the diseased leg vessels.

Also read: Stopping Ozempic, Wegovy, Mounjaro Linked To 22% Higher Heart Attack, Stroke Risk: Study

Breaking Deep Calcium Deposits In Artery Wall

To prepare the artery for stenting, doctors used Intravascular Lithotripsy (IVL), an advanced technology that delivers controlled sonic pressure waves to fracture deep calcium deposits within the artery wall. This allows the blood vessel to expand more effectively, enabling safe and optimal placement of the coronary stent.

IVL works on a principle similar to the technology used for breaking kidney stones, but it is specifically designed for heavily calcified coronary arteries. By modifying the calcium before placing the stent, we can achieve better stent expansion, reduce procedural complications and improve long-term outcomes in appropriately selected patients.

The procedure was completed successfully, with excellent blood flow restored to the affected coronary artery. The patient recovered well and was discharged in a stable condition.

Doctors say the case highlights how newer technologies are expanding treatment options for patients who were once considered extremely difficult to treat due to severe coronary calcification.

Advanced techniques such as IVL are transforming the management of complex coronary artery disease, particularly in elderly diabetic patients, allowing us to safely treat lesions that would have been significantly more challenging with conventional techniques alone.

The case underscores the growing role of advanced interventional cardiology in treating complex heart disease while minimising procedural risk and improving patient outcomes.