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.”

Mental health issues among doctors remain a serious but rarely discussed concern within the medical community, said Dr. Cyriac Abby Philips, popularly known on social media as the LiverDoc.

In an exclusive interaction with HealthandMe, the noted hepatologist highlighted the rising cases of burnout, depression, and suicide among healthcare professionals and the urgent need to address them.

He stated that doctors are among the major communities affected by mental health disorders, although the topic is often ignored within the profession.

“We have had very senior doctors die by suicide because of burnout,” he said, citing incidents involving highly successful doctors recently reported from parts of India, including Kerala.

Mental Health Of Doctors Impacts Patient Care

Liver Doc stressed that addressing doctors’ mental health is as important as treating patients’ mental health.

“A doctor who has good mental health will be a much better ally for the patient when it comes to treatment,” he said.

He also urged the medical community and regulatory authorities to introduce more interventions and support systems to prevent burnout and mental health disorders among doctors.

According to him, the emotional burden of treating critically ill patients and witnessing deaths regularly can deeply affect healthcare professionals.

“It’s depressing to treat patients and see them die. It’s depressing to see another human die,” he said.

The expert noted that doctors should find ways to openly discuss and process emotional stress and mental health struggles.

New Book On Burnout And Emotional Stress

Dr. Philips also addressed the issue in his recently released book, The Liver Doctor: Stories of Love, Loss and Regeneration.

He told HealthandMe that he has “very thoroughly and in very raw format addressed in the book” the mental health disorders affecting doctors, as it directly impacts patient care.

“Like every other doctor, I have also gone through that, and it's depressing to treat patients and see them die. I have this book to channelize that, and I feel less burdened when I do that, but other doctors also should find ways to do this. So this book also tells doctors to be more open about their mental health,” he said.

Deep Burnout Among Doctors

Doctors in teaching hospitals often endure long, unregulated shifts with little time for rest, especially during residency. Such exhausting work conditions not only increase the risk of medical errors but also significantly contribute to burnout, emotional exhaustion, and mental health problems among young doctors.

As per a recent nationwide survey on doctors’ mental health and morale, nine in ten doctors said they would not want their children to become physicians.

Also read: Global Mental Disorders Double In 33 Years, Affecting 1.2 Billion People: Study

The study, conducted by the Debabrata Mitalee Auro Foundation, surveyed 1,208 doctors across metropolitan cities and smaller towns over six months and found deep levels of burnout, fear of violence, and rising medico-legal anxiety among medical professionals.

Parliamentary Panel Flags Excessive Duty Hours

Further, the Parliamentary Standing Committee on Health and Family Welfare also raised concerns over “excessive continuous duty hours” for junior and senior resident doctors in April.

In its latest report, the panel warned that fatigue-driven errors and burnout could compromise care.

The Panel recommended that the government introduce and strictly enforce a formal “Clinical Duty Hours Regulation” policy. This would mandate fixed rest periods and monitored duty rosters, with oversight mechanisms to prevent violations.

India’s cell and gene therapy ecosystem is beginning to attract a different kind of attention that is driven not just by healthcare demand, but by proprietary science and platform-led innovation.

For investors, however, the larger story may not be the funding round itself. It may be the problem the company is trying to solve.

CAR-T therapies have transformed outcomes for several difficult-to-treat blood cancers globally. But despite strong initial responses, relapse remains one of the field’s biggest limitations. One reason is antigen escape, which means cancer cells can change the markers that therapies use to identify them, making them harder to detect over time.

In an analysis of 4,129 CAR-T treated patients, relapse remained a substantial issue after single-target therapy, with 42.1% of relapses associated with loss of the CD19 target itself. The finding points to a larger issue: precision may not be enough if therapies lose visibility over time.

The response increasingly appears to be a move toward multi-target and more durable platforms. A bispecific CAR-T platform designed to recognize more than one tumor marker, to reduce relapse is crucial.

The science itself is becoming increasingly platform-oriented. Beyond broader targeting, recent work explored why immune cells themselves lose effectiveness over time and identified pathways associated with stronger persistence and memory. While still early, the broader implication is that future therapies may need to be designed not only to attack disease, but also to remain active longer.

For India, that creates a larger opportunity. Historically, advanced therapies such as CAR-T have remained expensive and heavily dependent on technologies developed elsewhere. The aim is to significantly reduce treatment costs while building indigenous capabilities across design and manufacturing.

The shift matters because biotech investing is increasingly moving beyond services and generics toward intellectual property and platform science. The transition from bedside observations to translational platforms may be where the next phase of healthcare innovation and investment gets built.

Colon cancer, medically known as colorectal cancer, was historically typical for people aged 50 or older. However, in recent years, the cancer that forms in the tissues of the large intestine has been increasing in prevalence in young adults. As many as one in five colorectal cancer patients today falls into this younger age group.

Now, a study published by the American Society of Clinical Oncology shows that marathons, which are one of the most celebrated physical activities, may be increasing the risk of the disease.

What Did The Study Find?

The team at Inova Schar Cancer Institute in Virginia, US, initiated the study after observing multiple “ultramarathoners” present to their cancer center with advanced colorectal cancer.

To probe the link, they recruited 100 runners to undergo colonoscopies — the gold standard for screening and preventing colorectal cancer. The team then looked at runners ages 35 to 50, who had either completed at least five marathons or two ultramarathons (any runs of 50 kilometers or more).

Presenting the findings at the 2025 American Society of Clinical Oncology (ASCO) annual meeting, Dr. Timothy Cannon, an oncologist at the Institute, stated that

• Nearly 50 per cent of the participants in the study had polyps, which can become cancerous,
• 15 per cent had advanced adenomas (noncancerous tumor) which are likely to become cancerous.

Also read:Colorectal Cancer: UK Surgeon Warns Of 5 Silent Signs You Shouldn’t Ignore

Almost always, colon cancers start as small growths called polyps or precancerous lesions on the inner lining of the colon or rectum.

Moreover, the study found that the rate of advanced adenomas nearly tripled among the marathon runners, compared to the general population, at 4.5 -6 per cent.

How Does Ultra-running Spike Chance Of Developing Colon Cancer?

In general, running and other forms of exercise are known to reduce the risk of developing colon and other cancers. At the same time, exercise-induced gastrointestinal injury is also believed to be associated with reduced blood flow to the intestines during long-distance running.

Notably, to date there is no evidence that definitively shows running causes polyps.

The new study presents a correlation — an increasing relationship between long-distance running and advanced adenomas. It does not prove that running directly causes the adenomas.

Read More: Europe Sees Record Surge In Gonorrhea, Syphilis Cases In Over A Decade, Says ECDC

The new results suggest that “intensive long-distance running is a risk factor for advanced adenomas of the colon", said Dr. Timothy, in the paper. The team also called for "refining screening strategies" for marathon runners.

It is because runners put their bodies through a lot, which can raise the risk of chronic inflammation, enabling cancerous cells to grow.

Their high-caloric foods for immediate energy can slow down digestion and impact your overall colon health.

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, as the symptoms appear late, impacting treatment outcomes.

The common red flags for colorectal cancer include:

• rectal bleeding,
• persistent abdominal discomfort,
• pain,
• a noticeable change in bowel habits.