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.”

Indian Actress Dipika Kakkar, battling liver cancer, underwent another surgery last month for a 1.3 cm cyst that reappeared.

Best known for her role as Simar Bhardwaj in the hit TV show Sasural Simar Ka, Dipika underwent a major tumour-removal surgery in June 2025. She also undertook chemotherapy

In her latest vlog, Dipika shared that the unexpected recurrence has left her feeling anxious and overwhelmed as doctors evaluate the next course of treatment.

"The recurrence that happened with the 1.3 cm cyst has shaken me. I am a little scared now that it shouldn't happen again. I have started dieting, but I feel anxious," she said.

HealthandMe spoke to health experts to understand why cysts recur in liver cancer patients and how it's important to keep monitoring them.

According to health experts, a biannual liver scan is imperative, and it can detect signs of cysts.

“Simple cysts less than 2-3 Cm can be observed with repeat scans every 6 months to 1 year. Suspicious or malignant cysts need surgical resection and oncological treatment based on the histopathology and patient condition,” Dr Manjunath NML, Sr Consultant, Surgical Oncology and Robotic Surgeon, HCG Cancer Hospital, K R Road, Bengaluru.

What Are Liver Cysts? How It's Linked To Cancer

Liver cysts are like bags that are filled with fluid. They are usually not cancer. Most people who have liver cysts do not get cancer.

However, just because one has a cyst, it does not mean it's cancer.

“Cysts in the liver are typically harmless and unrelated to liver cancer. However, unusual types of cysts may suggest malignant changes that need further examination, particularly among risk groups,” Dr. Govind Nandakumar, Consultant – Gastrointestinal Surgery, Manipal Hospitals Hebbal, told HealthandMe.

The experts noted that cases of recurring cysts related to liver cancer are uncommon. But they occur because of

• the presence of cancerous cells,
• regrowth of the organ,
• chronic conditions like cirrhosis.

Also read: 1 In 4 Diabetic Patients in India Suffer from Liver Fibrosis, Finds Lancet Study

Are There Early Warning Signs Patients Should Watch For?

Many liver cysts do not cause any problems in the early stages. That is why regular check-ups with a doctor are important. If a cyst grows or becomes problematic, symptoms may begin to appear. These can include

• abdominal pain,
• bloating,
• nausea,
• weight loss,
• yellowing of the skin,
• fatigue.

Is Recurrent Cysts A Cause Of Worry?

Recurrent cysts can be effectively managed and treated over time. The recurrence does not necessarily imply the progression of the condition itself; however, more tests may be required to determine whether cysts are malignant or benign.

“Cysts with thick walls, septations inside, and solid components in them are more likely to be cancerous. If the cysts are large, they cause symptoms like pain, distension, and obstruction of the bowel or biliary tract,” Dr Manjunath said.

The experts explained that diagnosis can be achieved by scans like ultrasonography, Computerized Tomography CT or Magnetic Resonance Imaging (MRI). Suspicious cysts must be checked via biopsy to confirm malignancy.

While suspicious or malignant cysts require surgical resection and oncological treatment, symptomatic cysts, even if benign, may also require removal.

However, if a liver cyst is detected without suspicious features and is asymptomatic, it usually does not require any intervention, Dr. Manjunath noted.

What if the body whispers long before it screams? For many living with Parkinson’s disease, the earliest signs are not the tremors, but quieter changes, such as a diminished sense of smell, disrupted sleep, or gut problems. The challenge is that we are conditioned to look for the disease only once it becomes visible.

Parkinson’s disease, commonly referred to as a movement disorder, progresses slowly due to the destruction of the nerve cells in the brain.

To understand Parkinson’s disease, think of the brain as a command center where certain nerve cells produce dopamine, a chemical messenger that helps coordinate smooth movement. As these dopamine-producing cells gradually deteriorate, the brain’s signalling system gets disturbed, leading to slower movements, mistaken for normal ageing.

The majority of patients experience subtle early signs much before diagnosis, including a reduced sense of smell, sleep disturbances like insomnia, and persistent digestive problems like constipation. In these cases, timely intervention can reduce movement disability by roughly 40 percent.

Parkinson’s Treatment

Also read: Blame This Brain Region Behind Laughing, Coughing For Your Hypertension

Conventional treatment focuses on medications that boost dopamine levels, but over time, their effectiveness may decline. When drugs are no longer sufficient, doctors may recommend Deep Brain Stimulation (DBS), a surgical approach that works like a pacemaker for the brain and uses chest-connected electrodes to reset faulty signals causing stiffness and tremors.

Unlike fixed traditional stimulation, the advanced Adaptive DBS (aDBS) listens to brain signals in real-time to adjust therapy automatically. Its single threshold mode reacts instantly, boosting stimulation the moment brain signals hit a specific limit and turns it off just as fast once they improve.

Alternatively, its double threshold mode keeps stimulation steady within the safe zone," making only gradual tweaks if signals cross upper or lower limits. This smart system mimics the body’s natural rhythm to provide fluid symptom control while preventing overstimulation, ultimately helping you reclaim more "good" time and independence.

Parkinson’s Diet

There is no single ‘Parkinson’s diet,’ but certain food choices can help manage symptoms and overall well-being. A balanced diet rich in fruits, vegetables, and whole grains supports general health and may help reduce inflammation.

Plant-based flavonoids, present in berries, citrus fruits, and broccoli, which have antioxidant effects, can help protect brain cells from damage. Drinking enough water can support digestion and prevent dehydration.

Ultimately, small, consistent dietary choices, combined with medical guidance, can make a meaningful difference in managing symptoms.

Parkinson’s disease is a journey, and the earlier the signs are recognized, the better the condition can be managed. If you or a loved one is experiencing persistent changes in sleep, smell, or movement, do not wait for the symptoms to become overwhelming. Consulting a neurologist is the first step toward taking back control of your health.

While salt, cholesterol, and obesity are major factors driving high blood pressure, a recent study suggests they may not be the only causes.

Researchers from Brazil and New Zealand have identified a brain region that may increase the risk of hypertension. The study, published in the journal Circulation Research, showed that the brain region called the lateral parafacial region is the culprit.

The lateral parafacial region sits in the brainstem – the oldest part of the brain – which controls automatic functions such as digestion, breathing, and heart rate.

“The lateral parafacial region is recruited into action, causing us to exhale during a laugh, exercise, or coughing,” said lead researcher Professor Julian Paton, from the Centre for Heart Research at Waipapa Taumata Rau, University of Auckland.

“These exhalations are what we call ‘forced’ and are driven by our powerful abdominal muscles. In contrast, a normal exhalation does not need these muscles to contract; it happens because the lungs are elastic,” Paton added.

Can Breathing Patterns Signal Hypertension?

Paton and the team found that the lateral parafacial region also connects to nerves that tighten blood vessels -- a mechanism that raises blood pressure.

“We’ve unearthed a new region of the brain that is causing high blood pressure. Yes, the brain is to blame for hypertension!” Paton said.

“We discovered that, in conditions of high blood pressure, the lateral parafacial region is activated and, when our team inactivated this region, blood pressure fell to normal levels.”

The team explained that this means changes in breathing patterns – especially those involving strong abdominal muscle contractions – can trigger high blood pressure. Thus, any diagnosis of abdominal breathing in patients with high blood pressure may reveal the cause and hence direct appropriate treatment.

Can The Brain Region Help Treat Hypertension

The next question was whether the brainstem region could be treated with a medication.

“Targeting the brain with drugs is tricky because they act on the entire brain and not a selected region such as the parafacial nucleus,” Paton said.

The researchers then discovered that this region is activated by signals from outside the brain – from the carotid bodies, tiny clusters of cells in the neck near the carotid artery that sense oxygen levels in the blood.

These can be targeted safely with medication, they said.

“Our goal is to target the carotid bodies, and we are importing a new drug that is being repurposed by us to quench carotid body activity and inactivate ‘remotely’ the lateral parafacial region safely, i.e., without needing to use a drug that penetrates the brain.”

This finding could lead to new treatments for high blood pressure, especially for people who also have sleep apnea, as we know carotid bodies are activated in these patients when they stop breathing at night.

Global Burden Of Hypertension

Hypertension is commonly referred to as the "silent killer" due to its lack of noticeable symptoms. Unchecked, it progressively damages your arteries and vital organs.

It occurs when the pressure in your blood vessels is consistently higher than normal—usually 140/90 mmHg or more, states the World Health Organization (WHO). The normal and healthy level is estimated to be 120/80 mmHg. Blood pressure increases when the arteries get narrow or stiff, causing the heart to work harder.

At a global level, an estimated 1.28 billion adults aged 30 to 79 years have hypertension, and most of them live in low- and middle-income nations. Alarmingly, 46 percent of them do not even know they have it, and just 1 in 5 keeps it under control, as per WHO statistics.

Also read: Former US Senator Ben Sasse Opens Up About Battle With Terminal Stage 4 Pancreatic Cancer

In the US alone, the Centers for Disease Control and Prevention (CDC) estimates that nearly 47 percent of adults, or roughly 116 million individuals, have hypertension, yet only 24 percent control it well. The economic burden is just as overwhelming, with the US spending $131 billion each year on care related to hypertension.

Exercise, lifestyle changes, and diet are key to preventing hypertension