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.”

Health authorities in the United Kingdom have released a fresh advisory on the use of antibiotics this winter. The UK Health Security Agency (UKHSA) reminded the public that these medicines are designed for specific types of illness and are not useful in every situation.

Antibiotics treat or prevent bacterial infections by killing the bacteria outright or limiting their ability to grow. This allows the body’s own immune defences to clear the remaining infection. What they cannot do is treat illnesses caused by viruses.

This includes common winter infections such as colds, flu, and COVID-19. In a post on X, the UKHSA said, “Antibiotics don't work for colds and flu. Pharmacists can guide you on managing your symptoms.”

Health Officials Issue Winter Antibiotics Warning

The agency also urged people to keep a few basic points in mind when using antibiotics:

• Do not use them for colds or flu
• Do not keep unfinished courses for future use
• Always take them according to instructions

Flu And Cold: Why The Warning Matters

The reminder follows the release of the UKHSA’s English Surveillance Programme for Antimicrobial Utilisation and Resistance (ESPAUR) report, which shows that nearly 400 people in England each week are now diagnosed with infections that no longer respond well to antibiotics. These resistant infections are harder to treat and pose a greater risk of complications.

Experts believe that years of unnecessary or incorrect use of antibiotics have contributed to a decline in their effectiveness. This widespread overuse has also encouraged the rise of “superbugs”, a term used for bacteria that can withstand several commonly used antibiotics. Examples highlighted by the NHS include:

• MRSA (methicillin-resistant Staphylococcus aureus)
• Clostridium difficile (C. diff)
• The bacteria responsible for multi-drug-resistant tuberculosis

The NHS notes that these infections can be severe, difficult to control, and are becoming a growing cause of illness and death worldwide. The larger concern is that entirely new bacteria may emerge with resistance to every antibiotic currently available.

Cold Symptoms

A cold usually develops slowly and tends to be milder. Typical signs include a runny or blocked nose, sneezing, a sore throat, mild cough, slight body ache, and low fever if any. Many people also feel pressure around the sinuses and a mild headache.

Flu Symptoms

Flu sets in quickly and is generally more intense. People often experience a high fever, chills, deep muscle pain, marked fatigue, headache, dry cough, sore throat, and a sudden drop in energy. Some may also have nausea, loss of appetite, or chest discomfort.

What Experts Are Saying

Dr Alicia Demirjian, consultant epidemiologist and clinical lead for antimicrobial resistance and prescribing at the UKHSA, said, “Antibiotic resistance is one of the biggest threats facing modern medicine, but the good news is we can all do something about it.”

If a doctor has prescribed antibiotics, it is vital to take the medicine exactly as told, without skipping or delaying doses.

The NHS advises, “If you miss a dose, check the patient information leaflet to see what to do. If you are unsure, speak with a pharmacist or your GP. In many cases, you can take the missed tablet as soon as you remember and then continue the course as usual. If it is almost time for your next dose, leave out the missed one and return to your usual schedule.”

A very common medical condition globally, sleep apnea is a disorder that interrupts breathing during sleep. Several factors can cause it, though the risk rises sharply with obesity because extra fat in the neck, known as pharyngeal fat, can narrow the airway. Health professionals usually advise lifestyle changes such as diet and exercise to ease symptoms, but if these steps do not help enough, weight-loss injections may be recommended.

Australia’s Therapeutic Goods Administration (TGA) has now approved the weight-loss drug Mounjaro as a treatment option for sleep apnea, a condition where a person repeatedly stops and starts breathing through the night. The TGA states that Mounjaro may be used for adults with moderate to severe obstructive sleep apnea who also meet the criteria for obesity with a body-mass index of 30 or more.

The United States Food and Drug Administration cleared the same drug for this purpose last year. This raises an important question. How could a medicine known mainly for weight management and type 2 diabetes support people struggling with sleep apnea?

What Is Sleep Apnea?

Obstructive sleep apnea affects close to a billion people worldwide. It causes repeated pauses in breathing that disrupt sleep and reduce oxygen levels. Many people notice loud snoring, choking or gasping, and heavy daytime fatigue. The main forms are obstructive sleep apnea (OSA), caused by a blocked airway, and central sleep apnea (CSA), which occurs when the brain does not send the right signals to the breathing muscles. If ignored, it can raise the risk of high blood pressure, heart disease and stroke, according to the Mayo Clinic.

How Does Obesity Trigger Sleep Apnea?

Obesity is one of the strongest contributors to obstructive sleep apnea. Roughly 80% of people diagnosed with the condition also live with obesity. The link runs in both directions. Extra fat around the neck can make the airway narrower and disturb breathing.

At the same time, sleep apnea can interfere with hunger and satiety hormones such as ghrelin and leptin, which can encourage overeating. Persistent tiredness makes it harder to stay active or maintain healthy habits, creating a cycle in which both problems feed into each other.

How Can Mounjaro Help With Sleep Apnea?

Mounjaro is the brand name for tirzepatide, also sold elsewhere under names like Zepbound. It works by activating receptors for two gut hormones known as GLP-1 and GIP. These hormones help control appetite, food intake and blood sugar. They are normally released when we eat, but tirzepatide mimics their action so people feel satisfied with smaller portions. Eating less overall can lead to gradual weight loss, which may improve sleep apnea symptoms in those whose condition is tied to obesity.

Mounjaro Side Effects

Although Mounjaro may be useful for some adults with sleep apnea, digestive side effects are fairly common. People may experience nausea, vomiting, diarrhoea, constipation or a drop in appetite. These issues often lessen as the body adjusts. Some users have also noted gallbladder-related concerns.

Even with these drawbacks, interest in Mounjaro as a sleep apnea therapy is growing because it offers a drug-based option for a condition long treated mainly with devices such as CPAP machines. Still, the medication is meant for people with obesity, and not everyone with sleep apnea falls into that category.

It is always best to speak with a healthcare provider before beginning or stopping any prescribed treatment.

A three-year-old boy from California has stunned doctors with his rapid progress after receiving a world-first gene therapy for Hunter syndrome, a rare inherited condition that causes progressive damage to the body and brain. The treatment was carried out at the Royal Manchester Children’s Hospital and offers new hope for families who have long lived with the devastating effects of the disease.

What Is Hunter Syndrome?

Hunter syndrome is caused by a faulty gene that prevents patients from producing an enzyme needed to clear certain molecules from cells. Children appear healthy at birth but start showing symptoms around age two. The condition affects the heart, liver, bones and brain and is often described as a form of childhood dementia. Most severely affected patients rarely live beyond their teenage years.

How Doctors Tried to Halt the Disease

Before treatment, Oliver Chu could not produce the crucial enzyme, reports BBC. Conventional therapy required weekly infusions that only slowed physical decline and could not protect the brain. Doctors in Manchester decided to attempt a one-time gene therapy, something never tried before for this condition.

Stem cells were collected from Oliver’s blood in December 2024 and sent to a specialist laboratory at Great Ormond Street Hospital in London. Scientists inserted a working copy of the missing gene into a harmless virus. The virus delivered the corrected gene into Oliver’s stem cells, allowing them to produce the missing enzyme once infused back into his body. Researchers also modified the gene to help the enzyme travel more easily into the brain, a major challenge in previous treatments.

The First Infusion

In February 2025, Oliver returned to Manchester for the infusion. His corrected stem cells, about 125 million of them, arrived frozen in a cryopreservation tank. After several safety checks, nurses slowly injected two doses into a catheter in his chest. The entire process took minutes, but the hope behind it was enormous. Once the infusion was complete, Oliver and his mother returned to California to wait for results.

Signs of Improvement

By May, the effects were becoming clear. Oliver’s speech had improved, his mobility had increased, and his parents described him as “brighter” and “healthier.” Most significantly, he no longer needed the expensive weekly enzyme infusions. His body had begun producing the enzyme on its own.

His older brother Skyler, who also has Hunter syndrome, accompanied the family to Manchester during this follow-up visit. Their parents now hope Skyler may also qualify for the therapy one day.

A Year That Changed Everything

By late August, nine months after treatment, doctors confirmed that Oliver was producing far above normal levels of the missing enzyme. He was gaining new words, moving more easily and showing continued cognitive progress. Professor Simon Jones, who co-leads the trial, praised Oliver’s development but noted that researchers still need long-term data.

Five boys from the United States, Europe and Australia are enrolled in the ongoing trial. No UK patients qualified because most were diagnosed too late. Participants will be monitored for at least two years to assess effectiveness and safety.

A Trial That Nearly Collapsed

The gene therapy almost never reached patients. Researchers at the University of Manchester had spent over 15 years developing it but nearly lost funding when their biotech partner withdrew. A last-minute contribution of 2.5 million pounds from the medical charity LifeArc saved the trial and allowed children like Oliver to join.

His parents say they are “eternally grateful” and feel his life has been “reset.” For them, the treatment represents not just medical progress but a future filled with possibilities.