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.”

Irritable Bowel Syndrome (IBS) is a common but often overlooked gastrointestinal disorder; as a result, IBS is very prevalent, with less than 15% being diagnosed.

Individuals frequently experience recurrent symptoms such as bloated abdomen, abdominal pain, gas, diarrhea, or constipation, and normalize these symptoms over time or attribute them to "something they ate" or everyday stresses. Therefore, IBS remains undiagnosed for many years.

Why Diagnosis Is Often Delayed

One reason for this delay in being diagnosed is that the symptoms occur intermittently. It is also important to note that the presentation of these symptoms is inconsistent and unpredictable; there may be episodes where the IBS can last many days, and then completely resolve, thus providing a false sense of relief. Therefore, many individuals choose to delay consulting with a physician due to their belief that the symptoms they are experiencing are not serious.

Stigma Around Digestive Health

Another contributing factor is that there is still a degree of reluctance or discomfort associated with discussing problems related to the gastrointestinal tract openly; this only further complicates under-reporting statistics.

A ‘Functional’ Disorder Adds to Confusion

Finally, IBS is a functional disorder. Therefore, routine diagnostic testing will not reveal any visible abnormalities. Many patients may assume that the symptoms they are experiencing are not "real" or are not significant enough to warrant seeking medical attention, even though the discomfort they experience can be quite significant and affect their daily lives.

If you continually ignore symptoms of IBS, it will hurt your quality of life, productivity, and mental health. If you have persistent discomfort, you are likely to develop anxious feelings about eating, socializing, and travelling. Furthermore, if you don't manage your symptoms, you may experience a combination of untreated IBS with one or more other illnesses that are either gastrointestinal or metabolic; consequently, establishing the correct diagnosis for your IBS will be increasingly difficult as time goes on.

Why Early Action Matters

It is of the utmost importance to identify and respond to early warning signs of IBS as quickly as possible. A thorough evaluation can rule out other illnesses and provide a pathway for appropriate management, including dietary modifications, stress management techniques, and, if necessary, medical treatment.

Once you address your IBS, you will experience better control of your symptoms and eliminate the long-term consequences of IBS, both physically and psychologically.

Colorectal Cancer is not only one of the most common and deadly cancers, but is also one of the most preventable ones.

Unlike many other cancers, patients have a clear window of opportunity to stop it before it even begins. Almost always, these cancers start as small growths called polyps or precancerous lesions on the inner lining of the colon or rectum.

There is a long interval of time before polyps develop into cancer. During this time, they can be removed if they are identified. If a doctor removes a precancerous polyp during a routine screening, they would not only have nipped the cancer in the bud, but would have also prevented it from occurring.

However, there is a persistent taboo surrounding discussing bowel movements and other risk factors, and public understanding of its symptoms and crucial screening procedures frequently lags.

Dr Jeremy Clark, a consultant general surgeon specializing in colorectal diseases at Nuffield Health in Brighton, has underscored five critical warning signs the public must recognize, The Independent reported.

1. Blood in stool

“Passing blood when you go to the toilet is a worrying feature that you should flag to your GP,” Clark said, adding that the color can vary from bright red to almost black.

“If you see blood in the stools, particularly darker-colored blood or blood that’s actually mixed in with the stools, just once, and it’s significant, that should be reported to your doctor straight away. Don’t wait for that to keep on happening,” he added.

2. Changes in Bowel Habits

Dr. Clark stated that although more constipation may not be a risk factor, any sudden changes in bowel movements that last for a couple of weeks and do not go back to normal must be checked.

“If your bowels go from working once a day like clockwork, and then suddenly you’re going two or three times a day, and the bowels are a bit looser, that’s something that needs to be looked into,” the expert added.

3. Abdominal pain

Dr Clark highlighted that bowel cancers can cause abdominal pain, even in the initial days.

4. Bloatedness

The feeling of being 'quite often’ bloated may also indicate that something is going wrong in the bowel, Dr. Clark said.

5. Unexplained weight loss

Bowel cancers can impact digestion and cause weight loss

Dr Clark said that as these symptoms are common with other conditions, such as hemorrhoids or irritable bowel syndrome (IBS), people often ignore or easily dismiss these symptoms. He urged patients not to ignore and visit their doctor if they notice any of these symptoms.

Also read: US Health Secretary Robert F. Kennedy Jr. Stalls 600M Global Vaccine Aid For Poor Nations: Report

What Is Colorectal Cancer?

The American Cancer Society notes that colorectal cancer is a cancer that starts in the colon or the rectum. Colorectal cancer impacts around 1.9 million people every year, noted the World Health Organization (WHO) as per its 2022 data.

It is a disease of the large bowel and a type of cancer that originates from the rectum or colon. A person's colon, cecum, rectum, and anus make up the large intestine.

According to experts, if you are above 45 years of age or have high-risk factors, you need to take the initiative to be screened.

The FIT (Fecal Immunochemical Test) is a simple, non-invasive at-home stool test kit that can collect a small sample of your feces, which can then be tested.

“If it comes back as positive, that means there is blood in your stools which needs to be investigated,” Clark said, adding that the next step is typically the Colonoscopy – the gold standard.

Cognitive Behavioural Therapy (CBT) is often mentioned in conversations around mental health, yet its depth and practical relevance are not always fully understood. Rooted in the connection between thoughts, emotions, and behaviours, CBT offers a structured way to recognise patterns, question unhelpful narratives, and respond with greater awareness. Rather than offering quick fixes, it equips individuals with tools that can be applied in everyday situations, making it both accessible and effective. Here’s a closer look at what truly defines CBT and how it works in real life. Aanandita Vaghani, Founder and Mental Health Counsellor at UnFix, listed the five key things everyone must know before considering CBT.

1. CBT isn’t about “positive thinking”: This is the biggest misunderstanding. CBT doesn’t ask you to think happy thoughts or gaslight yourself out of pain. It asks you to slow down your thinking and notice patterns you’ve been running on autopilot. What this really means is learning to catch the story your mind tells before it becomes your mood, your reaction, or your identity.
2. It works because it’s grounded in real life: CBT is practical by design. We’re not just exploring why something hurts; we’re looking at what you do next. CBT gives language and structure to experiences people already have but can’t name yet.
3. It’s collaborative, not prescriptive: Good CBT isn’t a therapist handing out rules. It’s a joint investigation. We test thoughts together. We check assumptions against evidence. We experiment gently, not force change. What matters is not “Is this thought wrong?” but “Is this thought helping me live the life I want?” That nuance is often missed, and it’s where CBT actually becomes humane.
4. The goal isn’t control. It’s a choice: People often worry CBT is about controlling emotions. It’s not. It’s about widening the gap between trigger and response so you have options. You may still feel anxious, sad, or angry, but you’re less hijacked by it. It’s the difference between reacting from fear and responding with intention.
5. CBT works best when it’s integrated, not isolated: CBT is powerful, but it’s not meant to exist in a vacuum. In practice, it works best when combined with body awareness, emotional processing, relational context, and compassion. Thoughts don’t float alone; they live in nervous systems, histories, and relationships. That’s why modern therapy doesn’t ask “CBT or not?” It asks, “How do we use CBT wisely?”

At its core, CBT is not about eliminating difficult thoughts or emotions but about changing your relationship with them. It invites you to step out of autopilot, question familiar patterns, and respond with greater awareness and intention. When approached thoughtfully, often alongside other therapeutic tools, it becomes less about fixing yourself and more about understanding yourself. And in that understanding lies the ability to navigate life with more clarity, flexibility, and choice.