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.”

The IVF laboratory is a critical place where science and precision come together to help create embryos. Here, the expert explains the careful measures that take place inside the lab and the important role of the embryologist in helping couples achieve parenthood.

Many couples are battling infertility and are advised to undergo in vitro fertilization (IVF) to conceive. The couples tend to focus on various factors such as doctor consultations, hormone injections, and embryo transfer.

However, one of the most important parts of the treatment happens in the IVF laboratory. Couples are often unaware of what happens behind the closed doors in the IVF lab.

The IVF Lab: A Highly Controlled Environment

Did you know? Highly trained embryologists work with advanced technology when it comes to handling the eggs, sperm, and embryos in the IVF laboratory.

They are the ones who are responsible for planning and carrying out every step with accuracy to be able to give embryos the best possible environment for healthy development.

The lab is a controlled and sterile space wherein the temperature, humidity, air quality, and lighting are strictly monitored to be able to protect the delicate eggs and embryos.

Even small changes in the environment tend to impact embryo development, so strict quality standards are followed every day by the expert.

Also read: From Hope To Parenthood: How IVF And Embryology Are Changing The Fertility Journey For Couples

From Egg Retrieval to Fertilisation

The process commences after the woman's eggs are collected during a minor procedure. On the same day, the male partner will also provide a semen sample, or previously frozen sperm, if needed. The embryologist will examine both the eggs and sperm under a microscope to check the quality.

Then the healthiest sperm are selected to fertilise the eggs.

Fertilisation will occur after the egg and the sperm are placed together in a special culture dish or via a procedure known as Intracytoplasmic Sperm Injection (ICSI), wherein a single healthy sperm is directly injected into the egg.

The expert will decide the method after knowing the couple's fertility condition.

Also read: Delhi's Poor AQI, Monsoon Conditions Put Children's Lungs at Risk: Ways to Keep Kids Safe

Monitoring Embryo Development

When fertilisation happens, the embryos are placed in special incubators that closely mimic the conditions inside the human body.

Over the next few days, embryologists monitor their growth and development, and some embryos may undergo genetic testing to identify certain inherited or chromosomal conditions before they are transferred.

The Embryologist's Role in Ensuring Safety and Success

Understand that the embryologist maintains detailed records and follows strict identification protocols to ensure every egg, sperm, and embryo is accurately matched with the correct patient.

Hence, the embryologist plays a vital role in every successful IVF journey.

Ravi is 34 years old. He goes to the gym three times a week, weighs a healthy 68 kg, and has never been diagnosed with diabetes or high blood pressure. During his company's annual health check-up, an ultrasound revealed four unexpected words: Grade 1 Fatty Liver.

Like many people, Ravi was shocked. "How is that possible?" he asked. "I'm not overweight."

The answer reflects a growing reality that is changing how liver specialists understand one of India's fastest-growing liver diseases.

The Old Story Vs The New Reality

For years, fatty liver—now medically known as Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)—was considered a condition affecting people who were overweight, had diabetes, or consumed excessive alcohol.

That understanding is no longer complete.

Today, we increasingly diagnose fatty liver in individuals who are lean, appear metabolically healthy, and do not consume alcohol. This condition, often referred to as lean MASLD, accounts for nearly 10–20% of fatty liver cases in Asia. Given the unique genetic and metabolic profile of South Asians, the true burden in India may be even higher.

So, What Is Actually Going On? The reasons are more complex than body weight alone—and many are hiding in plain sight.

Also read: Do People With Type 2 Diabetes Face A Higher Risk of Severe Dengue? New Review Says Yes

Your Genes May Be Working Against You

Certain genetic variants, particularly PNPLA3, make the liver more likely to store fat even when the rest of the body appears healthy. This genetic predisposition is significantly more common among South Asians than Western populations.

In other words, you may be lean, eat reasonably well, and still develop fatty liver because of your inherited biology.

Hidden Metabolic Dysfunction

A normal body weight does not always mean a healthy metabolism.

Many lean Indians carry excess visceral fat—fat stored around internal organs rather than under the skin. This "skinny fat" phenomenon is especially common in our population and is strongly linked to liver fat accumulation and inflammation, despite a normal BMI.

Also read: Subtle Warning Signs Of Serious Health Conditions That Only Your Partner Can Notice

It's Not Just How Much You Eat — It's What You Eat

A diet rich in refined carbohydrates and added sugars can overwhelm the liver.

Frequent consumption of foods such as white rice, refined flour (maida), packaged snacks, biscuits, sugary beverages, and fruit juices provides excess fructose, which the liver converts directly into fat.

Over time, this process promotes fatty liver—even in individuals who never become overweight.

By Dr. Chetan Kalal, DM Hepatology, Liver Transplant Specialist, Saifee Hospital, Mumbai

For most people, dengue is associated with high fever, severe body aches, headache, fatigue, and a temporary drop in platelet count. With proper care, the majority of patients recover completely within a couple of weeks. However, doctors caution that in rare instances, dengue can leave behind an unexpected complication that affects the nervous system rather than the blood—Guillain-Barre syndrome (GBS).

What Is Guillain-Barre Syndrome (GBS)?

GBS is an uncommon autoimmune disorder in which the body's immune system mistakenly attacks the peripheral nerves. It usually develops after an infection, and growing evidence suggests that dengue can be one of the infections capable of triggering this immune response. While the chances remain low, the condition can progress rapidly and requires prompt medical attention.

The condition affects the nerves and can cause increasing weakness in the legs, arms, face and swallowing.

Also read: Do People With Type 2 Diabetes Face A Higher Risk of Severe Dengue? New Review Says Yes

How Dengue Can Trigger GBS

Unlike the fever and body pain seen during active dengue infection, GBS often appears days or even weeks after the patient seems to be recovering. This delay can make it easy to overlook the connection.

Our immune system protects our body by fighting infections. In some rare cases an infection like dengue can trigger a strange immune response where our body mistakenly attacks its own nerves.

Nerves carry signals between our brain and the rest of our body allowing us to move and feel normally. When nerves get damaged it disrupts the signals from our brain leading to muscle weakness tingling and other symptoms.

Someone who has recently recovered from dengue may suddenly notice tingling in the feet or hands, weakness in the legs, difficulty climbing stairs, or an unsteady walk. As the condition progresses, the weakness may spread upwards, affecting the arms, facial muscles, swallowing, or even the muscles responsible for breathing.

The exact reason this happens is believed to be an abnormal immune response. Instead of switching off after fighting the dengue virus, the immune system mistakenly attacks the protective covering of the nerves, disrupting the signals between the brain and muscles. This results in the characteristic muscle weakness seen in GBS.

Guillain-Barre syndrome usually develops when we are recovering from dengue or even days to weeks after the fever has gone away.

Also read: India’s First Approved Dengue Vaccine: Takeda’s QDENGA Protects Against All Four Virus Serotypes

Warning Signs You Should Not Ignore

Feeling tired and fatigued is common, after dengue. Usually gets better slowly. However, we need to differentiate it from weakness. Neurological weakness means our muscle movements are affected.

It often starts in our legs. We may notice it is getting harder to climb stairs get up from a chair or walk normally. This weakness can sometimes spread to our arms and face. In cases it can even affect our swallowing or breathing which may require ICU and ventilator support.

Although dengue-related GBS is rare, recognising the warning signs early can make a significant difference. Timely diagnosis and treatment can help reduce complications and improve recovery.

Any person who develops new weakness, numbness, difficulty walking, facial drooping, trouble swallowing, or breathlessness in the weeks following dengue should seek immediate medical evaluation rather than assuming it is part of normal post-viral fatigue.

Also read: Will Waterborne Diseases Rise In The Future? New Study Says Climate Change Could Be A Major Driver

Why Early Recognition Matters

The reassuring news is that most people with dengue will never develop Guillain-Barre syndrome. Nevertheless, awareness remains important because the condition can become serious if left untreated.

Preventing mosquito bites, eliminating stagnant water around homes, and seeking medical care early for suspected dengue remain the best ways to reduce the risk of both the infection and its uncommon complications.

The main thing to remember this monsoon is simple: feeling tired after dengue's normal but if our weakness is getting worse we should not ignore it. Recognizing this difference. Getting medical help early can help us identify this rare but treatable complication on time.

As dengue cases rise during the monsoon, recovery should not simply be measured by the disappearance of fever. Paying attention to new neurological symptoms after the illness has resolved can help ensure that a rare but potentially life-threatening complication is recognised before it becomes an emergency.

By Dr. Abizer Manked, Consultant Physician and Diabetologist at Saifee Hospital, Mumbai and Dr. Arun Shah, Director Neurosciences, Sir HN Reliance Foundation Hospital, Mumbai