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 recent study has found proof that an autoimmune reaction is triggering certain neurological symptoms seen in some long COVID patients. The study, conducted in healthy mice, found that the mice exhibited symptoms mirroring those of affected patients to some extent.

What is Long COVID?

While it has been a long time since the end of the COVID pandemic, its effects continue to linger even today. Several patients who contracted COVID continue to suffer.

Autoantibodies Behind Long COVID Symptoms?

A US NIH-funded research group, directed by Drs. Akiko Iwasaki and Tamas L. Horvath of the Yale University School of Medicine and Dr. David Putrino of the Icahn School of Medicine at Mount Sinai recently found that autoantibodies could be triggering these neurological symptoms in some long COVID patients.

Antibodies, in a healthy person, help fight infections. In patients with autoimmune diseases, these antibodies target the body’s own tissues. They are called autoantibodies.

The study also discovered that patients who had these autoantibodies are more likely to experience similar symptoms. For example, people with autoantibodies are more likely to face symptoms like loss of taste and smell. They are also more likely to experience nausea and joint pain.

The Mouse Experiment

The researchers conducted the study by transferring purified antibodies from long COVID patients into healthy mice. It was discovered that the mice developed the following changes that resembled the donors' symptoms:

• Antibodies from patients with chronic pain caused increased pain sensitivity

• Antibodies from patients with dizziness caused balance problems

• Antibodies from fatigued patients reduced treadmill endurance

The recent breakthrough in long COVID research has brought the healthcare industry one step closer to personalizing care for those affected.

Dr. Putrino says, “Our study now shows that if you are in a subgroup of Long COVID patients who have autoantibodies circulating in your body, this is a quantifiable sign that you may be a good candidate for these drugs.”

Long COVID Patients More Likely To Develop Heart Diseases

The study finds that cardiovascular diseases were more common among long COVID patients. It concluded that 11.9% of those with long COVID have CVD compared to 6.8% without this condition.

Specifically, it further revealed that long COVID was associated with a higher risk of chest pain and heart attack, but not coronary heart disease and stroke.

There is a growing belief that ‘sugar feeds cancer.’ Because of this, many people think that stopping sugar and carbohydrates completely can starve cancer cells and help defeat the disease. However, the trend may have side effects. This half-truth is becoming dangerous for many patients. This trend is making it even more difficult for patients to cope with the side effects of chemotherapy.

This fact is not entirely unscientific, but it is incomplete. In 1924, the German scientist Otto Warburg found that cancer cells consume more glucose than normal cells. This phenomenon is known as the Warburg Effect.

This finding has subsequently been validated in numerous studies. This is also the reason why cancer cells appear clearly in PET-CT scans. They absorb glucose-like substances more aggressively than normal cells. But this does not mean cancer can be “starved” by reducing sugar in food.

Why The Body Still Needs Glucose?

Glucose is an essential fuel for the human body. The brain, heart, red blood cells, and immune system all depend on it.

If a person completely stops eating carbohydrates, the body starts producing glucose on its own. It breaks down muscles and proteins to make energy. This process is known as gluconeogenesis. This means the cancer cells still receive fuel, but the patient’s body becomes weaker day by day. This condition is described as ‘cancer cachexia.’

In this condition, body weight and muscle mass reduce rapidly. Such patients often cannot tolerate chemotherapy and surgery properly. In some cases, their protein levels and white blood cell counts had dropped too much.

As a result, doctors had to delay treatment, reduce medicine doses, or even stop some treatment cycles. Irony is painful. In trying to starve cancer, patients sometimes end up weakening their own bodies so much that proper treatment becomes difficult.

In my clinic, I see it almost every week. In such a case, a cancer patient walks in visibly frail. She almost had lost several kilograms over the past month. When I asked about her diet, her IT professional son said that she has cut out sugar entirely. The reason behind this was the same reel-based knowledge about sugar and cancer cells. His son strictly follows this half-truth. Due to her weakness, we had to push back her treatment for a few weeks.

What Cancer Patients Should Eat

We simply suggest avoiding foods that rapidly increase blood sugar levels. These include refined sugar, sweets, soft drinks, maida, and highly processed foods. We advise cancer patients to eat complex carbohydrates, whole grains, pulses, vegetables, healthy fats, and enough protein. The best way is not to cut sugar entirely, but to lower the glycemic load.

Will Fasting help?

Some animal studies have shown the benefits of fasting during cancer treatment. However, there is still not enough evidence in humans. For patients who are already weak or losing weight rapidly, long fasting can become harmful.

The Goal Is to Stay Strong During Treatment

Cancer cells use more glucose, but starving the body cannot stop cancer. If you want to help your body, then avoid refined sugar and junk food, but continue eating balanced meals. Because sufficient protein and calories are extremely important. Practising long fasting without medical advice is harmful. The goal should be to keep the body stable and strong, not weak.

The purpose of cancer nutrition is to nourish the patient, not to starve them. Proper nutrition helps the body tolerate treatment and fight disease more effectively. What is needed is to reduce the intake of refined sugar and foods with a high glycemic index, not to declare every carbohydrate an enemy. After all, one cannot win the battle against disease by weakening the body.

A new oral weight-loss drug is showing promising results for people living with obesity or who are overweight. In a phase II clinical trial published in Nature Medicine, participants taking the experimental medication aleniglipron lost up to 12% of their body weight over 36 weeks.

The study included contributions from Robert Kushner, MD, professor emeritus of medicine at Northwestern University and a longtime expert in obesity treatment.

Aleniglipron belongs to the GLP-1 family of drugs, the same class as popular medications such as Ozempic and Wegovy. These treatments help people lose weight by mimicking a natural hormone that reduces appetite, increases feelings of fullness, and helps regulate blood sugar levels.

What makes aleniglipron different is that it comes in pill form. Most currently available GLP-1 medications require injections and often need special storage, which can make them less convenient and more difficult for some patients to access.

Researchers believe an oral option could make treatment easier for many people. Because aleniglipron is a small-molecule drug—meaning it is chemically manufactured rather than peptide-based—it can be produced more efficiently and potentially at a lower cost.

“Aleniglipron is different because it’s a small molecule that can be taken with or without food,” Kushner said. “Most medicines people take every day, from aspirin to blood pressure drugs, are small molecules. That also creates opportunities to combine it with other treatments in the future.”

If further studies confirm its safety and effectiveness, aleniglipron could offer a more convenient alternative to injectable GLP-1 medications and help expand access to obesity treatment.

Why Is GLP-1 Drug A Medical Breakthrough?

Dr Shubham Vatsya explains that it took 20 years of research for scientists to come up with these medicines. This drug underwent proper lengthy trials, and have been approved by the US Food and Drug Administration (FDA), "which is not obtained by giving any bribe".

He also noted that when a person is not able to lose weight, Ozempic and drugs alike give a "head start" to them, along with a hope.

Talking about side effects, he says that every drug has its side effects, this is where a doctor's role comes in.

"Now, the person who is not able to lose weight, if you tell him 'you hit 100 kg bench press', he will break his shoulder. He needs a kickstart somewhere. This is what weight loss drugs allow," he says.

He also points out that the scientists who made GLP-1 agonists got a Nobel Prize, which "cannot be a scam". This is what makes weight loss drugs truly different.

Also Read: Raising Sons Linked to Faster Cognitive Decline in Later Life, Study Find

What Are GLP-1 Drugs?

GLP-1 Drugs stand for Glucagon-like peptide 1, a naturally occurring hormones that helps regulate blood sugar and appetite after eating. It was first identified almost 50 years ago and scientists have since uncovered its role in type 2 diabetes.