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.”

Metabolism-Associated Fatty Liver Disease (MAFLD) — also termed Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) — is defined by excess hepatic fat accumulation (>5 per cent of liver weight) in the presence of metabolic dysfunction, independent of alcohol intake. It encompasses a spectrum from simple steatosis to steatohepatitis, fibrosis, cirrhosis, and hepatocellular carcinoma.

MAFLD: Epidemiology In India

A Lancet Regional Health study found that approximately 39 per cent of Indian adults screened had fatty liver disease, making it one of the most prevalent chronic liver conditions in the country. Within India, prevalence shows regional variation driven by genetic, dietary, and socioeconomic factors.

A particularly important feature is the “lean MAFLD” phenotype — South Asians often develop fatty liver at a lower BMI due to disproportionately high visceral fat, which complicates detection based on conventional BMI screening. Currently, MASLD is the commonest cause of liver cirrhosis and hepatocellular carcinoma (HCC).

MAFLD: Causes And Risk Factors

The core drivers are components of metabolic syndrome: type 2 diabetes mellitus, obesity (particularly central adiposity), dyslipidemia, hypertension, and insulin resistance. MASLD is strongly linked to obesity, sedentary lifestyles, and metabolic syndrome.

Genetic susceptibility also plays a role — variants in genes such as PNPLA3 are associated with increased liver fat accumulation, particularly in certain Indian populations. Rapid dietary transition towards ultra-processed, high-calorie foods compounds the risk.

MAFLD: Investigations

Routine liver function tests may appear normal in early stages, and an ultrasound detects only moderate-to-severe fat accumulation. A structured approach includes:

• Blood tests: LFTs, fasting glucose, HbA1c, lipid profile, insulin resistance indices
• Ultrasound abdomen: First-line imaging for steatosis
• FibroScan (Transient Elastography): Liver stiffness measurement (LSM) and controlled attenuation parameter (CAP) are standardized non-invasive tools for assessing fibrosis and steatosis.
• Liver biopsy: Gold standard for staging steatohepatitis and fibrosis when non-invasive tests are inconclusive.

MAFLD: Treatment

No approved pharmacotherapy exists exclusively for MAFLD; management is lifestyle-centred:

• Weight loss: 7–10 per cent body weight reduction significantly reduces hepatic steatosis and inflammation
• Diet: Mediterranean-style diet; restrict refined carbohydrates and saturated fats
• Exercise: Both aerobic and resistance training improve insulin sensitivity and liver fat
• Metabolic comorbidity control: Optimise glycaemia (GLP-1 agonists show hepatic benefit), manage dyslipidaemia and hypertension
• Emerging therapies: Resmetirom (thyroid hormone receptor-β agonist) has shown promise in MASH with fibrosis.

Once known to affect only people over 60, Parkinson’s Disease is now increasingly being seen in young adults, especially at the age of 40, said health experts on World Parkinson’s Day today.

World Parkinson’s Day is observed every year on April 11 to raise awareness about the brain condition that causes tremors, slowness of movement, and trouble walking.

Parkinson’s is a progressive and neurodegenerative movement disorder caused by the loss of dopamine-producing brain cells.

Progressive decline in mobility is a key issue among Parkinson's patients, impacting their independence and quality of life. Other problems include slow movement, tremor, imbalance, cognitive impairment, mental health disorders, sleep disorders, and pain.

Also read: World Parkinson's Day 2026: Origin, Theme And Global Burden

Young-onset Parkinson’s Disease

According to the American Parkinson's Disease Association, a diagnosis of Parkinson’s between the ages of 21 and 50 is referred to as early-onset Parkinson’s disease, or young-onset Parkinson’s disease (YOPD).

Exposure to environmental toxins and lifestyle changes are major reasons for the rise in Parkinson's in this group.

While the symptoms of the disease are mostly the same at whatever age it develops, younger people will experience the disease differently due to their unique life circumstances. Managing the disease can be particularly challenging for a younger person and their family from a medical, psychological, and social standpoint.

"There is a perceived increase in younger-onset Parkinson’s in India. Possible reasons include better awareness and diagnosis (more neurologists, improved access to care), environmental exposures (pesticides, heavy metals), and air/water pollution. Lifestyle (sedentary habits) and urbanization-related factors may also contribute," Dr Sudhir Kumar, Neurologist at Apollo Hospitals Hyderabad, told HealthandMe.

A 2022 study, published in NPJ Parkinson's Disease, showed that the incidence of Parkinson’s disease, or the number of new cases diagnosed per year, is 50 per cent higher than previously estimated.

Instead of past estimates of 60,000 new cases of Parkinson’s disease diagnosed per year, the study determined that there are approximately 90,000 new cases of Parkinson's disease diagnosed in the US per year.

"Young-onset Parkinson’s disease (YOPD) is on the rise, mainly in the middle socio-demographic index. These countries include India, China, and some Southeast Asian countries," Dr Paresh Doshi, Director of Neurosurgery and Stereotactic & Functional Neurosurgery at Jaslok Hospital and Research Centre.

"According to one research paper, the age-standardized incidence rate has been rising at an alarming rate of 1.4 per cent per annum. To put it in perspective, if the incidence was 100/10,00,000 in 1995, it would be 153/10,00,000 in 2026," he added.

The experts noted that, along with the rising disability burden, mortality is reducing. The compound effect of all these is a larger number of YOPD patients suffering longer. Surgeries like deep-brain stimulation can help reduce these disabilities significantly.

Checklist for Parkinson’s: Signs You Should Not Ignore

Early recognition is critical, as many symptoms precede motor features by years.

Common early signs include:

• Reduced sense of smell (anosmia)
• Slowness of movement (bradykinesia)
• Reduced arm swing while walking
• Resting tremor
• Masked facies (reduced facial expression)
• Change in handwriting (micrographia)

Other important symptoms, which are often overlooked:

• Constipation
• Sleep disturbances (especially REM sleep Behavior disorder)
• Depression or anxiety.

Parkinson’s Disease is traditionally characterized by motor symptoms such as tremor and dyskinesia, although non-motor symptoms, in particular gastrointestinal (GI) symptoms such as constipation and incomplete emptying, are often the first markers of the disease and may precede the motor symptoms by years.

GI dysfunction is reported in approximately 70-80 per cent of Parkinson’s patients, mediated in large part through the gut-brain axis (GBA).

Speaking to HealthandMe, Dr Paresh Doshi, Director of Neurosurgery and Stereotactic and Functional Neurosurgery at Jaslok Hospital and Research Center, GBA, is an established two-way network that links the GI tract and the central nervous system (CNS). The connection is multifaceted, involving the vagus nerve, the enteric nervous system (ENS), the immune system, and a vast number of microbial metabolites and neuroendocrine signals.

“Constipation is seen in 66 per cent of Parkinson’s patients, attributed to disordered central and peripheral parasympathetic disruption, and can lead to alteration of the gut microbiome, which in turn worsens constipation, starting a feedback loop,” the doctor explained.

What Parkinson’s Patients Must Eat

Dr Sudhir Kumar, Neurologist at Apollo Hospitals Hyderabad, told HealthandMe that changes in the gut microbiome may influence inflammation, α-synuclein aggregation, and symptom progression.

Practical dietary principles for Parkinson’s patients include:

• Prefer fiber-rich, plant-based foods (vegetables, fruits, whole grains), which support gut microbiota
• Include fermented foods (curd, buttermilk), which may improve microbial diversity
• Reduce ultra-processed and pro-inflammatory foods
• Ensure adequate hydration (helps reduce the risk of constipation, a common non-motor symptom)
• Protein timing matters: Levodopa competes with amino acids for absorption.

These gut-targeted interventions are promising adjuncts to conventional Parkinson's therapy, and improving patient quality of life.

Parkinson’s Treatment With Dance, Art

Beyond gut-brain axis, research has proven that unconventional therapy, like dance and art, can improve Parkinson’s treatment.

A 2024 study published in the Scientific Reports found that tango, particularly Argentine tango, improved Parkinson's symptoms like thinking problems or balance issues. It also led to a significant improvement in recognizing emotions on people's faces.

Dr Kumar said dance therapy improves balance, gait, and coordination; provides rhythmic cueing, which enhances motor performance, and improves mood and motivation (dopamine-related pathways).

Similarly, art therapy has been shown to improve overall visual-cognitive skills and visual exploration strategies as well as general motor function in patients with Parkinson’s. The changes in brain connectivity highlight a functional reorganization of visual networks, as revealed by a study published in Parkinsonism & Related Disorders.

Dr Kumar said art and creative therapies are also helpful in enhancing cognitive engagement. It may help with executive function and emotional well-being and provide a non-verbal outlet for expression. However, these therapies work best as adjuncts, not replacements, to standard treatment, the expert noted.

World Parkinson’s Day 2026

World Parkinson's Day is observed annually on April 11 to raise global awareness of Parkinson’s disease, the world's fastest-growing neurodegenerative disorder.

It highlights the need for early diagnosis, research, and support for the nearly 10 million people living with the condition. The day marks the birthday of Dr. James Parkinson, who first described the disease in 1817.

The theme of World Parkinson's Day 2026 is "Bridge the Care Gap." It reflects a critical challenge that persists despite advances in medical research: many people living with Parkinson's still lack consistent access to specialist care, affordable treatment, and integrated support systems.

Parkinson's disease affected 11.9 million people in 2021 and will affect 25.2 million people globally by 2050, representing an alarming 112 per cent rise.