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.”

India faces a substantial hepatitis C burden, with the World Health Organization (WHO) estimating that 5.5 million to 12 million people are living with chronic hepatitis C virus (HCV) infection.

Untreated chronic HCV infection can lead to liver scarring, cirrhosis and liver cancer. Could shortening treatment by four weeks help more patients access a cure?

A multi-center trial led by researchers from the Indian Council of Medical Research (ICMR) found that an eight-week course of a commonly used antiviral combination was as effective as the standard 12-week regimen in patients without cirrhosis. Published in The Lancet, the findings could have implications for treatment costs and access to care.

The treatment combines sofosbuvir (400 mg) and velpatasvir (100 mg), two direct-acting antivirals that target the hepatitis C virus.

What Did The Indian Trial Find?

Also read: Punjab To Start Screening For HIV, Hepatitis B & C At De-Addiction Centres

The RESOLVE trial, led by researchers from Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, evaluated whether eight weeks of sofosbuvir and velpatasvir could match the effectiveness of the standard 12-week course.

The trial enrolled 880 patients without cirrhosis across five publicly funded hospitals in Lucknow, New Delhi and Varanasi. Half received the combination for eight weeks, while the other half received it for 12 weeks.

Among participants who completed treatment and follow-up, 98.8% in the eight-week group achieved a sustained virological response, compared with 99% in the 12-week group. This means the virus remained undetectable after treatment, indicating a cure.

The researchers found that the shorter regimen was non-inferior to the standard course, meaning it was not less effective beyond the trial's prespecified statistical margin.

The study also reported no drug-related serious adverse events or treatment discontinuations due to adverse events.

How Shorter Treatment Help Reduce Hepatitis C Burden In India?

Direct-acting antivirals transformed hepatitis C treatment nearly a decade ago, making it possible to cure most patients with relatively few side effects. However, treatment costs and access remain important considerations for large public health programmes.

A 12-week course of sofosbuvir and velpatasvir costs approximately ₹15,000. Shortening treatment by four weeks could save around ₹5,000 per patient.

If adopted for a population of 60 lakh people requiring treatment, the shorter regimen could potentially save ₹3,000 crore. However, these are projected savings, and the actual impact would depend on patient eligibility, treatment costs and adoption in clinical practice.

Who Can Receive The Shorter Treatment?

The findings apply to patients without cirrhosis, as the trial excluded those with the condition. Patients with cirrhosis may require different treatment approaches depending on the severity of their liver disease and other clinical factors.

The trial's results do not mean that everyone with hepatitis C can switch to an eight-week course. Further evaluation and changes to relevant clinical guidance may be needed before the shorter regimen becomes routine practice.

Patients should consult their treating physician before making any changes to their prescribed treatment.

How Does Hepatitis C Spread?

Hepatitis C can cause illness ranging from mild infection to serious, long-term liver disease. Although some acute infections resolve spontaneously, chronic infection can progress to cirrhosis and hepatocellular carcinoma, a type of liver cancer.

The virus can spread through infected blood, including via shared needles and unscreened blood transfusions.

Perinatal transmission is an important route of HCV acquisition in children. Early detection can help identify infected infants and ensure appropriate follow-up.

Colorectal cancer (CRC), a term encompassing cancer of the colon and rectum, is not only a growing burden in India, but a significant proportion of patients are now being diagnosed at a young age. While colorectal cancer is more common in older adults, Indian clinical studies have identified the phenomenon of young onset colorectal cancer (YO-CRC), typically diagnosed before the age of 50. An experts’ review on epidemiology of colorectal cancer with special emphasis on India, an article in 2025 was published in the Indian Journal of Gastroenterology. The review found that there has been an annual rise of 2-3% in the incidence of colorectal cancer over the past two decades.

In the area of Young Onset Colorectal Cancer, an editorial in 2024 in the South Asian Journal of Cancer noted that one quarter to one-third of colorectal cancer patients in India were below 40 years, and many were diagnosed at stage III or IV. Titled Clinicopathologic Profile and Treatment Outcomes of Colorectal Cancer in Young Adults, A Multicenter Study from India, an article published in JCO Global Oncology studied colorectal cancer among adolescents and young adults. The study revealed 62.70% had colon cancer and 37.30% rectal cancer, with 67% being aged 30-39 years and no significant gender predisposition, though females had a higher metastatic burden.

Why is colorectal cancer affecting younger Indians?

There is no single explanation. Researchers have studied factors like dietary changes, obesity, physical inactivity, altered metabolism, alcohol consumption, smoking, and environment as possible contributors. Increasing urbanisation and changing food habits could also be playing a role in India’s shifting colorectal cancer profile. But not all patients present with conventional risk factors, and in many patients, the causes remain unclear.

Genetic predispositions need special mention. Conditions such as Lynch syndrome and familial adenomatous polyposis (an inherited genetic condition that causes precancerous polyps to form in the large intestine) can raise the risk of colorectal cancer at a young age, but most young-onset cases are not explained by an inherited cancer syndrome.

Also read: Pope Leo XIV, Diagnosed With Lung Cancer, Undergoes Surgery As His Brother Battles Relapsed Multiple Myeloma

The problem of missed symptoms

One of the biggest problems in cancer treatment is delayed diagnosis. Because cancer is associated with older age, the symptoms in younger people may be mistaken for piles, constipation, diet-related problems or even irritable bowel syndrome. Rectal bleeding, persistent changes in bowel habits, unexplained weight loss, abdominal pain, iron-deficiency anaemia, persistent fatigue, or a feeling of incomplete bowel evacuation is usually dismissed as minor issues in younger people.

What should young Indians do?

Colonoscopy is not a solution that can be recommended for every young adult. Symptoms- and risk-based screening is a more reasonable approach. People with persistent symptoms, a strong family history of colorectal cancer, hereditary cancer syndromes, inflammatory bowel disease, or unexplained anaemia may require more intensive evaluation (including colonoscopy) if clinically indicated. This are high risk group, and they need regular screening lifelong. India’s colorectal cancer burden is rising, and younger patients are important segment of this burden.

The evidence available does not prove a nationwide explosion of colorectal cancer in under-50 age groups in India, but it does demonstrate an increasing overall incidence, a significant presence of young onset colorectal cancer, and frequent late presentation. If someone have a first degree relative with colon or rectal cancer like parents, ideally, they should have a colonoscopy done by the age of 45. For younger Indians, early recognition of warning signs may be one of the most critical steps for timely diagnosis and improved outcomes.

By Dr. Abhishek Gangopadhyay, Consultant - Surgical Gastroenterology, Surgical Oncology, Narayana RN Tagore Hospital, Mukundapur, Kolkata

At 42, Danielle Ripley-Burgess of Kansas City, Missouri, has survived colon cancer three times, at 17, 25 and 39.

The disease often begins as noncancerous growths called polyps in the colon or rectum. Early-stage cancer and precancerous polyps may cause no noticeable symptoms. Ripley-Burgess spotted her first symptom at the age of 14 but ignored.

Her First Symptom At 14

At 14, Ripley-Burgess noticed specks of blood in her stool but hid them out of embarrassment, believing red foods might be responsible.

“I thought, I’m eating something red and that’s probably what I see,” she told Today. “So I put myself on a ‘no red foods diet’ and stopped eating anything that was red in color: everything from candy to pizza to salsa to raspberry popsicles.”

After two years she eventually told her mother, who believed it to be a case of hemorrhoids. As her bleeding worsened, and she developed fatigue and severe stomach pain, she was taken to a gastroenterologist.

Colon Cancer Diagnosis At Age 17 And 25

A few weeks after her 17th birthday, Ripley-Burgess was diagnosed with stage 3 colon cancer. She underwent chemotherapy, radiation and surgery. But years later, a follow-up colonoscopy revealed another cancerous polyp.

“I thought I had beaten cancer. I was getting colonoscopies every three years, and after one of them, I woke up and saw the very same look on the doctor’s face that I had seen eight years prior,” she said. “He saw a polyp that later turned out to be cancerous. I had no symptoms. At 25, I had stage 1 colon cancer.”

The second diagnosis was emotionally difficult as she feared losing the life she had built with her husband and the future they had planned.

Lynch Syndrome Increased Her Cancer Risk

Further testing revealed that Ripley-Burgess had Lynch syndrome, an inherited condition that increases the risk of colorectal, uterine and other cancers, according to the Mayo Clinic.

She underwent a preventive hysterectomy and subtotal colectomy, which removed all but about 13 inches of her colon.

Despite these measures, a colonoscopy in 2023 yet again detected a recurrence. At 39, she opted to have the remaining colon removed and a permanent ileostomy.

“I wasn’t expecting it, but I also wasn’t completely shocked,” she said, explaining that living with Lynch syndrome meant knowing cancer could return.

Why Blood in Stool Should Not Be Ignored

Ripley-Burgess now shares her story to encourage people, especially younger adults, to seek medical attention for unusual symptoms.

“If I could go back and tell my younger self something, it would be: Don’t be embarrassed about your body,” she told the outlet. “If you’re seeing something with your body that’s uncomfortable and weird, and you’re not ready yet to tell a doctor, tell somebody — a friend or family member. Don’t sit in that place of: something is wrong with your body, and you don’t know what it is. Don’t sit there alone. Don’t downplay what you’re seeing,” she

Colorectal cancer is expected to cause 158,850 new cases and 55,230 deaths in the US in 2026, according to the American Cancer Society.

Dr. Sajjan Rajpurohit, medical oncologist at BLK-Max Super Speciality Hospital, said, “Blood in the stool is one of the most common and concerning signs. While it might be due to hemorrhoids or fissures, it’s important not to assume. A proper evaluation is critical.”

Rectal bleeding can have several causes, but it should not automatically be attributed to hemorrhoids. Timely medical evaluation can help identify the cause and ensure appropriate treatment.