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.”

While GLP-1 weight-loss drugs such as Wegovy and Mounjaro have helped patients lose weight, a major concern has been weight regain once the therapy is stopped. Now, a new study by US scientists suggests that a daily pill may help prevent that rebound weight gain.

According to a clinical trial led by Weill Cornell Medicine and NewYork-Presbyterian, switching to the once-daily orforglipron pill may not only help maintain weight loss but also preserve cardiometabolic benefits.

Orforglipron is US drugmaker Eli Lilly’s first oral pill for weight loss, marketed as Foundayo. In April, it received approval from the US Food and Drug Administration (FDA).

Weight Loss With Daily Pill Orforglipron

In the Eli Lilly-funded trial, published in the journal Nature Medicine, researchers found that patients in the Phase 3b clinical trial maintained around 75–80 per cent of their weight loss. They also experienced several additional health benefits, including:

• Reduced waist circumference
• Improved blood pressure
• Better blood sugar control
• Lower triglyceride levels
• Improved cholesterol levels

The Clinical Trial

The ATTAIN-MAINTAIN trial enrolled patients who had already achieved substantial weight loss that later plateaued while taking weekly injectable GLP-1 drugs during the SURMOUNT-5 trial.

The study randomized:

• 205 patients taking tirzepatide
• 171 patients taking semaglutide

The results showed that patients switching from tirzepatide to orforglipron maintained an average of 74.7 per cent of their body weight reduction, compared with 49.2 per cent in the placebo group.

Meanwhile, patients who switched from semaglutide to orforglipron maintained 79.3 per cent of their body weight reduction, compared with 37.6 per cent in the placebo arm.

Over the 52-week trial period, participants treated with orforglipron gained:

• An average of 5 kg (11 lbs) in the tirzepatide group
• An average of 1 kg (2.2 lbs) in the semaglutide group

How The Daily Pill Orforglipron Works

Eli Lilly licensed orforglipron, the active ingredient in Foundayo, from a Japanese pharmaceutical company in 2018.

Like injectable GLP-1 drugs, Orforglipron is available in six doses ranging from 0.8 mg to 17.2 mg. Patients typically begin at the lowest dose and gradually increase under medical supervision.

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Unlike some oral GLP-1 drugs, people taking orforglipron do not need to restrict food or drink intake after taking the pill. Researchers say the small molecule is absorbed quickly into the bloodstream and reaches target tissues efficiently.

Orforglipron: Side Effects And Safety Concerns

Foundayo is not approved for use in children and carries warnings about potential thyroid tumours, including thyroid cancer.

The drugmaker advises patients to watch for symptoms such as:

• Lump or swelling in the neck
• Hoarseness
• Trouble swallowing
• Shortness of breath

• Nausea
• Constipation
• Diarrhoea
• Vomiting
• Indigestion
• Stomach pain
• Headache
• Swollen belly
• Fatigue
• Belching
• Heartburn
• Gas
• Hair loss.

In a major development for cancer care in India, Swiss pharmaceutical major Roche Pharma has launched Tecentriq SC, the country’s first subcutaneous (under-the-skin) immunotherapy for lung cancer that can be administered in approximately seven minutes.

While conventional intravenous (IV) infusions can take hours, Tecentriq SC can significantly improve the cancer treatment experience by reducing treatment time by nearly 80 per cent.

The seven-minute injectable immunotherapy has the potential to:

• Treat up to five patients in the time taken to treat one patient through intravenous infusion
• Help optimise healthcare resources
• Lower indirect treatment costs
• Minimise the need for patients to travel long distances
• Reduce the amount of time caregivers spend in hospitals

“With Tecentriq SC, we are bringing an innovation that meaningfully reduces treatment time while maintaining the established efficacy and safety profile of Tecentriq. We believe such advances can play an important role in enabling more patient-centric and future-ready cancer care delivery in India,” said Roche Pharma India Chief Medical Officer Dr Sivabalan Sivanesan, in a statement.

What Is Tecentriq SC? What's The Cost In India?

Tecentriq SC is the first and only PD-(L)1 inhibitor globally with both intravenous (IV) and subcutaneous (SC) formulations across multiple cancers.

First approved by the UK MHRA in 2023 and subsequently by the USFDA in 2024, Tecentriq SC is now approved in more than 85 countries, with over 10,000 patients benefitting globally.

In India, Tecentriq SC is currently approved by the DCGI for adjuvant and metastatic non-small cell lung cancer (NSCLC). NSCLC is the most common form, making up about 80–85% of all cases.

According to Sivanesan, the drug is priced at about "Rs 3.7 lakh per vial".

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How Does Tecentriq SC Work?

Tecentriq SC combines Tecentriq with Halozyme Therapeutics’ Enhanze drug delivery technology.

The technology uses recombinant human hyaluronidase PH20 (rHuPH20), an enzyme that temporarily increases permeability in the subcutaneous space, enabling rapid dispersion and absorption of the medicine into the bloodstream, the company said.

How Tecentriq SC will Boost Cancer Care In India

The launch of Tecentriq SC also aligns with the broader shift toward decentralised cancer care in India. Shorter administration formats can free up hospital beds, healthcare staff time, and oncology resources at tertiary care centres, while helping shift care delivery to daycare centres and beyond traditional tertiary hospitals.

“India’s growing cancer burden requires us to rethink how cancer care is delivered. Innovations such as subcutaneous immunotherapy have the potential to simplify treatment administration, reduce pressure on hospital beds and support more decentralised models of care beyond large metro hospitals,” said Dr Amit Rauthan, Consultant and HOD of Medical Oncology at Manipal Hospital.

Read More: India Better Prepared For Hantavirus Outbreaks After COVID-19 Experience, Says Dr NK Ganguly | Exclusive

Tecentriq SC: Safety

Global studies have indicated strong patient preference for subcutaneous administration.

According to results from the IMscin002 study presented at the European Lung Cancer Congress (ELCC) 2024:

• Four out of five patients preferred Tecentriq SC over IV administration
• Patients cited less time in clinics, greater comfort, and lower emotional distress as key reasons for preference

Studies have also shown that subcutaneous administration is associated with less discomfort, pain, and irritation compared to IV administration.

In the IMscin001 study presented at ESMO 2023:

• 90 per cent of healthcare professionals agreed the SC formulation was easy to administer
• 75 per cent believed it could save time for healthcare teams.

Even as Polycystic Ovary Syndrome (PCOS) got rebranded as Polyendocrine Metabolic Ovarian Syndrome (PMOS), it signals a major shift in how doctors understand and treat one of the most common hormonal conditions affecting women, said health experts today.

Speaking to HealthandMe, the experts noted that from the earlier narrowed focus on ovarian cysts, the transition toward PMOS will better capture the condition’s complex metabolic and endocrine nature.

Dr. Isha Kriplani, Consultant – Obstetrics and Gynecology at Paras Health, said the renaming marks “the beginning of a new era in women's gynecological health.”

What Does PMOS Mean?

Also read: PCOS Is Now PMOS: What The Name Change Means For Millions Of Women

The new name aims to explain the condition more accurately and comprehensively.

Polyendocrine means it affects multiple hormones in the body.

Metabolic refers to issues linked to weight, insulin, blood sugar, and heart health.

Ovarian highlights its impact on ovulation and reproductive health.

Syndrome refers to a group of symptoms occurring together.

In simple terms, PMOS is a hormonal and metabolic condition that can affect periods, fertility, skin, mood, weight, and long-term health.

How Will The Change Impact Women

Dr. Isha stated that the term PMOS acknowledges that the disorder is not solely linked to hormonal imbalance or ovarian dysfunction, but also deeply connected to metabolic health. She explained that many women experience symptoms such as weight gain, skin issues, fatigue, insulin resistance, and hormonal disturbances without necessarily showing ovarian cysts on ultrasonography.

“Rebranding Polycystic Ovary Syndrome (PCOS) into Polyendocrine Metabolic Ovarian Syndrome (PMOS) is the beginning of a new era in women's gynecological health. This is because renaming helps us understand that the complex interplay of this disease is not only about imbalanced hormones but also metabolism,” she told HealthandMe.

Dr. Isha added that the shift could help broaden diagnosis and encourage early intervention to prevent long-term complications such as type 2 diabetes and hypertension. She noted that the new terminology also provides women with a more accurate understanding of the syndrome and encourages treatment strategies focused on addressing the root metabolic causes.

Why The Change To PMOS Was Necessary

Dr. Raina Chawla, Associate Director – Gynecology at Sarvodaya Hospital, told HealthandMe the transition from PCOS to PMOS corrects what she described as one of medicine’s “most persistent misnomers.”

She explained that for years, the term PCOS led many patients to believe the condition was purely ovarian in nature, often resulting in confusion and delays in diagnosis. According to Dr. Raina, the so-called “cysts” seen in PCOS are actually immature follicles that develop as a consequence of the disorder rather than being its primary cause.

Also read: PCOD vs PCOS vs PMOS: Why The Condition’s Name Has Changed Over Time

“The shift from PCOS to Reproductive Metabolic Syndrome (PMOS) is an important move toward correcting one of medicine’s most persistent misnomers,” Dr. Raina said.

She further emphasized that the newer terminology places appropriate attention on insulin resistance and androgen excess, helping doctors and patients approach the disorder as a systemic endocrine and metabolic condition rather than a localized ovarian issue.

Experts believe the change in terminology could also reduce stigma and improve awareness about the wide-ranging symptoms associated with the syndrome, while encouraging a more holistic treatment approach that includes lifestyle modifications, metabolic screening, and long-term preventive care.