Why Some People Are Immune To Deadly Diseases Over Others?

Updated Mar 1, 2025 | 07:00 PM IST

Summaryhe 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.
COPA syndrome

Credits: Canva

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.”

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Glutathione IV Drips Are Trending For Skin Brightening: Are They Safe?

Updated Sep 14, 2026 | 03:55 PM IST

SummaryAs per the US FDA, injectable/IV glutathione is not FDA-approved as a safe compounded sterile injectable, carrying high risks of contamination and severe adverse reactions.
Glutathione IV Drips Are Trending For Skin Brightening: Are They Safe?

Credit: iStock

From upscale salons to local aesthetic clinics, a quick IV infusion of glutathione is being offered for skin brightening and anti-ageing. But these increasingly popular cosmetic drips may neither be legal nor safe and may carry several health risks, doctors have warned.

Glutathione is an unapproved therapy that involves risks at many levels, including toxins. As per the US FDA, injectable/IV glutathione is not FDA-approved as a safe compounded sterile injectable, carrying high risks of contamination and severe adverse reactions.

Warning Against Glutathione IV Drips

In a social media post on X, noted hepatologist Dr Cyriac Abby Philips called out an advertisement for a clinic offering glutathione IV drips, promising skin whitening.

He warned people to “absolutely” avoid it, as the effects on skin may be temporary but carry long-term health risks from kidney to liver dysfunction, and potentially fatal skin reactions.

“Because the body continuously produces melanin, any potential lightening effect is temporary. Once the extreme systemic doses are stopped, the skin's natural pigmentation returns,” Dr Abby said.

Further, he also stated that the procedure is mostly offered by "cosmetologists" or commercialized dermatology clinic chains. As cosmetology is not a recognized medical degree or a protected medical title under the National Medical Commission in India, people claiming to be "cosmetologist" is not really a medical practitioner, but merely certified "coaches" or "wellness experts".

Poor Evidence Supporting IV Glutathione

The expert, better known as “LiverDoc” also noted that the clinical evidence supporting IV glutathione is exceptionally poor.

“The administration of IV glutathione in dermatology and cosmetology clinics is a lucrative marketing trend that operates outside the bounds of evidence-based medicine”.

“Marketing claims rely heavily on anecdotal reports and a single, widely criticized trial that suffered from a tiny sample size, poor study design, and unreliable evaluations,” he added.

FDA Warning Over Glutathione IV Treatments

“Because IV glutathione is not approved for cosmetic use, the solutions utilized in wellness clinics and med-spas are typically sourced from "compounding pharmacies". This bypasses standard pharmaceutical manufacturing regulations, introducing severe risks”.

Dr. Abby explained that a "compounded drug" is a custom medication created by a pharmacist or physician who combines, mixes, or alters ingredients on their own.

He cited how in August 2026, the US FDA issued an urgent safety warning after dozens of patients experienced potentially fatal infection (sepsis)-like symptoms — including fever, chills, low blood pressure, and hospitalization — following glutathione IV treatments.

“Clinics were found to be compounding IV drips using dietary-supplement-grade powder, which contained dangerously high levels of bacterial endotoxins. Administering high doses has been linked to severe adverse effects, including anaphylaxis, acute kidney and liver dysfunction, and potentially fatal skin reactions like Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS and TEN),” Dr Abby said.

India Tightens Rules Around Injectable Cosmetics

In May 2026, the Central Drugs Standard Control Organisation (CDSCO) tightened rules around cosmetic use.

In a new public notice issued, the CDSCO stated that cosmetic products that come in injectable form do not fall under the definition of cosmetics under the law. It said that such products are not permitted for use by consumers, professionals, or aesthetic clinics.

Other Potential Health Risks

According to the Philippines FDA, given that glutathione affects the production of melanin — the pigment that gives human skin, hair and eyes their colour — there are theoretical concerns about the long-term skin cancer risk.

Other potential risks include transmission of infectious agents, such as HIV, hepatitis C and B. This is of particular concern when a non-medical practitioner administers this treatment or it is done in a non-sterile facility.

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When A Routine Hernia Surgery Doesn't Heal: Knowing When It's More Than A Normal Recovery

Updated Sep 14, 2026 | 02:00 PM IST

SummaryAdvances in minimally invasive laparoscopic surgery have made it possible to successfully manage many complex hernia mesh complications while reducing pain, hospital stay, and recovery time
When A Routine Hernia Surgery Doesn't Heal: Knowing When It's More Than A Normal Recovery

Credit: iStock

According to the World Health Organization (WHO), hernia repair is one of the most important surgical procedures, with published estimates suggesting that around 20 million hernia repairs are performed each year globally. For most patients, recovery is smooth, steady, and uncomplicated. It is one of the most performed surgeries globally, and for most patients, recovery is steady. Mild pain, swelling, and discomfort during the first few weeks are usually part of the healing process and improve with time. However, when a wound refuses to heal, pain continues to worsen, or there is persistent discharge from the surgical site, these symptoms should never be ignored.

Although complications following hernia mesh repair are uncommon, delayed recognition can make treatment far more challenging. One of the more serious complications occurs when the surgical mesh erodes into surrounding organs, particularly the intestine, leading to infection, chronic wounds and, in rare cases, an entero-cutaneous fistula, an abnormal connection between the bowel and the skin.

A recent patient cases highlights why early medical attention is so important. An umbilical hernia surgery performed years ago led to complications for a 32-year-old lady from Bengaluru. What was supposed to be a simple procedure turned out to be a prolonged medical ordeal for the patient. The injury could not be healed completely, and as time went by, the patient developed persistent drainage from the injury site, which made her daily tasks increasingly difficult.

A further assessment revealed that the mesh had eroded into the bowel and caused an entero-cutaneous fistula. At this point, the surgery was going to be much more complicated than a regular hernia repair. This is a particularly challenging case for surgeons, requiring very detailed planning, since there is always a high probability of finding dense scar tissue and adhesions, which made it impossible to properly detach the bowels.

The surgery was done as a complicated laparoscopic revision operation, during which the adhesions were freed; both meshes were removed, and the part of the bowel that was affected by them was recovered, and the abdominal wall structure was restored. The postoperative period went quite well, and the man was relieved of all the discharge, and his intestinal function was restored within a few weeks.

Such cases may be quite rare, but they send a clear message – never neglect prolonged symptoms, thinking that they are just a part of the recovery process. Hernias are easily repaired, but if healing goes slowly, it is always better to do additional tests to avoid complications.

Signs that might arouse concern about the patient’s condition after the hernia surgery:

1. The wound is not healing properly while waiting for the healing process.

2. The wound is continuously oozing secretions.

3. An unexpected increase in pain in contradiction to the healing phase.

4. Body temperature is above normal or other symptoms of infection are present.

5. An unexpected formation or swelling has appeared in the surgical area.

It should also be mentioned that not everyone suffering from pain after the operation faces a serious complication. However, those with ongoing or worsening health conditions should not perform self-treatment and wait for the issues to resolve.

Advances in minimally invasive laparoscopic surgery have made it possible to successfully manage many complex hernia mesh complications while reducing pain, hospital stay, and recovery time. At the same time, successful treatment depends not only on surgical expertise but also on timely diagnosis and appropriate follow-up.

The goal is not to create anxiety around hernia surgery. Mesh repair remains a safe and effective treatment for most patients. The key message is simple: listen to your body. If your recovery process takes much longer than expected, or there is something that appears abnormal, you should consult with a doctor right away. There are instances where timely action prevents complications and allows for a full recovery.

By Dr. Kiran K. J., Senior Consultant, Department of General, Laparoscopy, GI, Bariatric & Robotic Surgery, Apollo Hospitals, Bannerghatta Road, Bengaluru.

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Diabetes Check-Up Led to a Cataract Diagnosis - and a Path to Greater Freedom from Glasses

Updated Sep 13, 2026 | 05:31 PM IST

SummaryA routine diabetes check-up uncovered cataracts, highlighting how regular eye screenings can enable timely treatment and, with appropriate surgery, reduce dependence on glasses.
Diabetes Check-Up Led to a Cataract Diagnosis - and a Path to Greater Freedom from Glasses

Credit: AI

A globally introduced, newer-generation cataract lens was used in India for the first time, enhancing patient’s recovery journey and treatment outcome

Since her diabetes diagnosis 5 months ago, Mrs Vani Vaish had done what doctors tell every diabetic to do - turn up regularly for an eye exam because diabetes can quietly damage the blood vessels and nerves in your eyes. The eye damage often gives no major noticeable warning until real damage has been done, which is exactly why the screening isn't optional, symptoms or not.

How A Routine Eye Check-Up Revealed A Cataract

During one of these routine visits, Mrs Ahuja complained of blurring in her vision and increasing glare around headlights and streetlamps at night. Her ophthalmologist identified a cataract. For people living with diabetes, regular eye examinations can be important for more than monitoring diabetic retinopathy, as diabetes can also increase the risk of developing cataracts and may lead to their occurrence at a younger age.

The treatment options were discussed with her in detail, including the potential benefits and limitations of the technology, individual variations in outcomes and the considerations involved in selecting a presbyopia-correcting lens. Following a detailed evaluation, Mrs Ahuja underwent cataract surgery with implantation of the Clareon PanOptix Pro, a newer-generation trifocal intraocular lens that had recently become available in India.

Also read: What Is Lutein? The Eye-Friendly Antioxidant You Crave—Yet Don’t Know About

What The Newer-Generation Lens Is Designed To Do

The significance of the technology lies in what it is designed to change in cataract vision correction. Trifocal lenses split incoming light to provide vision across near, intermediate and distance ranges. The newer-generation optical design used in PanOptix Pro is intended to use available light more efficiently and reduce light scatter — an advancement that aims to support better quality of vision across different distances while addressing some of the visual compromises associated with multifocal lens technology.

Because no two patients have the same visual demands, expanding access to newer technologies plays a critical role in modern care. Our role is to evaluate each patient’s unique needs and ensure that the most suitable and advanced treatments available actually reach the patient, giving them every opportunity for a better quality of life.

The procedure marked the first use in India of the globally introduced Clareon PanOptix Pro lens. For MRs Vaish, the outcome of the treatment has matched what she hoped for. She reports clear vision and no floaters or other visual disturbances. Her recovery has also been smooth, and she has not even needed the temporary protective glasses in the days following the procedure.

Why Regular Eye Exams Matter For People With Diabetes

Her case highlights two important aspects of modern eye care. Regular eye examinations are important especially for people living with diabetes. A routine screening intended to monitor retinal health can also help identify other conditions affecting vision, including cataracts.

It also demonstrates that access to advanced medical technologies can significantly expand treatment possibilities and enhance the patient's recovery journey. When newer innovations are combined with careful clinical evaluation and personalised decision-making, they can help doctors move beyond a one-size-fits-all approach to treatment and offer patients options better suited to their individual visual needs and lifestyles.

By Dr Sudipto Pakrasi, Chairman, Ophthalmology, Medanta Mediclinic Defence Colony

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