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.”

Over 57 million people worldwide live with dementia, causing 36.3 million disability-adjusted life years (DALYs) and ranking as the seventh leading cause of death. But when it comes to dementia, memory loss is often the first symptom that comes to mind.

While forgetting birthdays or losing keys are commonly considered early warning signs of dementia, this may not always be the case.

Experts say a person can remember every birthday and anniversary and still have dementia.

What Are The Early Signs Of Dementia?

“Dementia may not begin with memory loss. It can begin with smell, language, personality or navigation,” Dr Priyam Bordoloi, an internal medicine resident from Assam, said in a post on the social media platform X.

1. Loss Of Smell: When Coffee Stops Smelling Like Coffee

Dr Priyam noted that loss of smell can be an early sign, but it is often overlooked because it may be attributed to a viral illness, sinus disease, smoking, medicines or a head injury.

“Persistent, unexplained smell loss may also be an early clue to Parkinson’s disease or dementia with Lewy bodies,” he added.

2. Everyday Words Start Disappearing

It is not simply an occasional tip-of-the-tongue moment. “In primary progressive aphasia, word-finding, grammar or comprehension may worsen while recent memory stays intact,” Dr Priyam noted.

3. The Family Says, “They Are Not The Same”

Changes in personality or behaviour may sometimes appear before memory problems.

“In behavioral-variant frontotemporal dementia, apathy, impulsiveness, loss of empathy or poor judgment may come before memory loss,” Dr Priyam said.

4. A Familiar Route Suddenly Feels New

Families may notice navigation problems even when a person has no obvious memory complaints. “Families ask me, ‘He has driven there for 20 years. How did he get lost?’ When it repeats, I look beyond forgetfulness,” Dr Priyam said.

He noted that visuospatial dysfunction can appear early in dementia with Lewy bodies or posterior cortical atrophy.

One Odd Symptom Does Not Necessarily Mean Dementia

Dr Parveen Yograj, a general surgeon from Jammu, added that one unusual symptom alone means little.

"A new, persistent and progressive pattern that disrupts daily life and is noticed by loved ones is what demands attention," he said on X.

How Can Dementia Risk Be Reduced?

Dr Yograj said several lifestyle measures may help protect brain health and reduce the risk of cognitive decline.

• Exercise Regularly: Regular aerobic exercise along with strength training can boost brain blood flow and build cognitive reserve.
• Follow A Brain-Healthy Diet: A Mediterranean or MIND diet, rich in vegetables, berries, nuts, olive oil and fish, can support vascular health.
• Prioritize Good Sleep: Solid sleep helps clear toxic brain waste and supports overall brain health.
• Keep Blood Pressure, Sugar And Cholesterol In Check: Managing blood pressure, blood sugar, cholesterol and weight can help reduce the risk of vascular dementia.
• Stay Socially And Mentally Active: Stay socially connected and mentally engaged by talking with others, reading, learning new skills and playing games.
• Quit Smoking And Limit Alcohol: Avoiding smoking, limiting alcohol and treating hearing loss early can also support long-term brain health.

Organ transplantation can offer patients with end-stage organ failure a new opportunity for a longer, healthier, and more independent life. However, transplantation is not the end of treatment—it marks the beginning of a lifelong commitment to maintaining the health and function of the transplanted organ.

Successful long-term outcomes depend on close collaboration between the organ recipient, living donor, transplant team, and family. Regular medical follow-up, adherence to prescribed medications, a healthy lifestyle, and early recognition of warning signs are essential for both recipients and living donors.

Care After Organ Transplantation

1. Strict Adherence to Immunosuppressive Medications

For most solid-organ transplant recipients, lifelong immunosuppressive therapy is required to prevent the immune system from attacking the transplanted organ.

Medications such as tacrolimus, cyclosporine, mycophenolate, corticosteroids, and other immunosuppressive agents may be prescribed depending on the type of transplant and the individual patient's condition.

Recipients should:

• Take medications exactly as prescribed and at the recommended times.

• Never stop or reduce immunosuppressive medication without consulting the transplant team.

• Avoid missing doses.

• Inform their transplant physician before starting any new medication.

Even seemingly minor changes in medication can affect drug levels and may increase the risk of acute or chronic rejection.

Also read: World Organ Donation Day 2026: Too Old Or Too Sick To Donate Organs? Doctors Bust Key Myths

2. Regular Follow-Up and Laboratory Monitoring

Regular follow-up with the transplant team is an essential component of lifelong transplant care.

Depending on the transplanted organ and individual circumstances, monitoring may include:

• Kidney and liver function tests

• Complete blood counts

• Immunosuppressive drug levels

• Blood pressure and blood glucose monitoring

• Urine examination in kidney transplant recipients

• Imaging or other investigations when clinically indicated

These evaluations help detect rejection, infection, medication toxicity, or deterioration in graft function at an early stage, sometimes before symptoms become apparent.

Also read: US HHS Action Against Kentucky Organ Donation Group Raises Questions About Transplant Safety

3. Recognizing Warning Signs

Transplant recipients should promptly contact their transplant team if they develop symptoms such as:

• Unexplained or persistent fever

• Chills or significant weakness

• Reduced urine output, particularly after kidney transplantation

• Swelling or sudden weight gain

• Breathlessness or persistent cough

• Persistent pain over the transplant site

• Persistent vomiting or diarrhoea

• Unexplained changes in blood pressure or blood sugar

Because immunosuppressive medications reduce the body's immune response, infections may develop more easily and may sometimes present with subtle symptoms. Early medical assessment is therefore important.

4. Infection Prevention

Transplant recipients are more susceptible to infections, particularly during periods of intensive immunosuppression.

Important preventive measures include:

• Practising regular hand hygiene

• Avoiding close contact with individuals who have contagious infections

• Following appropriate food-safety precautions

• Drinking safe and hygienic water

• Maintaining good personal hygiene

• Keeping vaccinations up to date as advised by the transplant team

• Seeking medical advice promptly if symptoms of infection develop

Recipients should also follow the specific infection-prevention recommendations provided by their transplant centre.

5. Healthy Nutrition and Lifestyle

A balanced and nutritious diet is an important component of long-term transplant health.

Recipients should aim to:

• Maintain a healthy body weight

• Eat a balanced diet rich in vegetables, fruits, whole grains, and appropriate sources of protein

• Maintain adequate hydration unless fluid restriction has been advised

• Limit excessive salt, sugar, and processed foods

• Exercise regularly according to their medical condition and physician's advice

• Avoid smoking and tobacco products

• Avoid excessive alcohol consumption

Certain foods, supplements, and herbal preparations may interact with immunosuppressive medications. No dietary supplement, herbal preparation, or over-the-counter medication should be started without discussing it with the transplant team.

Also read: AIIMS Performs Second Dual Kidney Transplant Using Organs From 70-Year-Old Donor: How It Can Expand Donor Pool?

Post-Donation Care for Living Organ Donors

Living organ donation is a remarkable act of generosity. However, protecting the donor's long-term health remains the highest priority.

After donation, the donor should remain under appropriate medical supervision and follow the recommendations of the transplant and surgical team.

1. Recovery After Donation

The recovery period varies depending on the type of donation and the individual's overall health.

Donors should:

• Follow wound-care instructions carefully.

• Take prescribed medications as directed.

• Get adequate rest during the initial recovery period.

• Gradually resume physical activity as advised.

• Avoid strenuous exercise and heavy lifting until medically cleared.

• Return to work and normal activities progressively.

The recovery process should be individualized rather than based solely on a fixed timeline.

2. Long-Term Health After Kidney Donation

Most carefully selected kidney donors can lead healthy, active lives with a single functioning kidney.

Long-term health recommendations include:

• Maintaining a healthy body weight

• Exercising regularly

• Eating a balanced diet

• Staying adequately hydrated

• Avoiding tobacco

• Avoiding unnecessary use of potentially kidney-toxic medications, particularly certain painkillers such as NSAIDs

• Monitoring blood pressure

• Periodically checking kidney function and urine as recommended

Living donation should never mean that donors stop looking after their own health. The donor's well-being remains a lifelong priority.

Any new or persistent symptoms should be reported to a healthcare professional.

Also read: India Records 20,138 Organ Transplants In 2025; Deceased Donor Transplants Reach 3,526

3. Emotional and Psychological Well-Being

Transplantation and organ donation can have a significant emotional impact on both recipients and donors.

Recipients may experience anxiety related to rejection, medication, financial concerns, or the uncertainty associated with transplantation. Living donors may also experience emotional changes during the recovery period.

Maintaining open communication with family members and the transplant team can be extremely helpful. If persistent anxiety, depression, sleep disturbances, or emotional distress develops, professional psychological or psychiatric support should be sought.

4. The Importance of Lifelong Follow-Up

The success of organ transplantation depends not only on the surgical procedure but also on long-term post-transplant care.

For recipients, medication adherence, regular monitoring, infection prevention, and a healthy lifestyle are essential to preserving graft function.

For living donors, appropriate postoperative recovery, long-term health monitoring, and healthy lifestyle practices help ensure that they continue to live healthy and fulfilling lives after donation.

The transplant may be a single surgical event—but maintaining the gift of life is a lifelong journey.

With appropriate medical supervision, adherence to treatment, healthy lifestyle choices, and timely attention to warning signs, organ recipients can protect the health of their transplanted organ, while living donors can continue to enjoy a healthy and active life after their selfless contribution.

By Dr. Pragnesh Desai, Senior Director & HOD – Urology, Renal Transplant, Robotics & Uro-Oncology, Yatharth Super Speciality Hospital, Noida Extension

Organ donation is one of the most generous gifts a person can give. Age, diabetes, hypertension or other medical conditions do not automatically rule out organ donation, doctors said on World Organ Donation Day.

Observed on August 13 every year, World Organ Donation Day aims to raise awareness about the need for organ and tissue donation and honour donors and their families.

Organ Donation After Brain Death

Dr. Umesh Gupta, Director and HOD, Nephrology and Kidney Transplant, Aakash Healthcare Multi-Speciality Hospital, Dwarka, told HealthandMe that organ donation can be considered when brain function is permanently lost and cannot be restored.

Brain death occurs when all functions of the brain and brainstem have permanently stopped.

“Brain death is different from a coma or a prolonged unconscious state. In brain death, the person cannot regain consciousness or breathe independently. Mechanical support may continue to keep the heart beating and preserve the condition of organs for a limited period, which is why organ donation can be considered,” he said.

Depending on the donor’s medical condition, organs such as the heart, liver, kidneys, lungs and pancreas may be suitable for transplantation.

Who Can Donate Organs?

Age alone does not rule out organ donation. Eligibility is assessed individually by the transplant team.

Doctors evaluate:

• Health and functioning of individual organs
• Existing illnesses
• Infections
• Medical history
• Other factors that could affect transplant safety

Can People With Diabetes or Hypertension Donate?

People with well-controlled diabetes or hypertension may still be eligible to donate certain organs or tissues, said Dr. Shailesh Chandra Sahay, Senior Director - Urology, Kidney Transplant, Robotic Surgery, Max Super Speciality Hospital, Patparganj.

Modern transplantation practices allow doctors to assess each organ individually rather than excluding a donor solely because of age or a particular diagnosis.

Every potential donor deserves a medical evaluation. An organ that may appear unsuitable to a person could ultimately give another patient a second chance at life.

Blood Group Is Important — But Not the Only Factor

Blood group compatibility is an important consideration in organ transplantation.

“A blood group O donor typically donates to O recipients, while AB recipients can receive organs from all ABO blood groups in many transplant settings,” Dr. Saurabh said.

However, compatibility involves more than blood type. Doctors also assess:

• Tissue compatibility
• Antibodies
• Organ size
• Recipient’s overall health

World Organ Donation Day 2026: Why Donation Matters

• One deceased donor can potentially save up to eight lives through vital organ donation.
• Tissue donation can improve the lives of many more people.
• A record 173,727 solid-organ transplants were performed worldwide in 2024, but demand continues to exceed supply.
• India performed 20,019 organ transplants in 2025, nearly four times the number in 2013.
• As of March 3, 2026, 89,839 patients were on India’s national waiting list for major organs.
• Only around 18% of transplants currently involve deceased-donor organs.
• More than 4.8 lakh Indians have pledged to donate organs and tissues after death since September 2023.