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.”

Bryan Johnson, the billionaire biohacker and longevity enthusiast, has been diagnosed with an incurable autoimmune disease called Autoimmune Gastritis (AIG).

Johnson is known for his radical longevity experiments, including measuring the biological age of his organs in an effort to reverse aging, injecting himself with ketamine, taking over 50 pills a day, undergoing fat transfers, and receiving blood transfusions from his teenage son.

In a recent post on X, he made the shocking announcement of his autoimmune conditions, which went undetected for years: Autoimmune Gastritis.

Calling it "bad news," Johnson wrote: "I have an autoimmune disease. My stomach is eating itself."

"2-5 per cent of people have this, too. Likely more, because it hides," he added.

According to Johnson, his stomach had been attacking itself without causing noticeable symptoms. The condition was only discovered in May.

Also read: Bryan Johnson Blames Sugary Cereals, Soda and Stress for His Autoimmune Disease; Shares Treatment Plan

The Early Warning Sign: Low Ferritin

Autoimmune Gastritis, a condition in which the immune system attacks the stomach's acid-producing cells, also impairs the absorption of iron and vitamin B12.

Johnson said one of the earliest signs of the condition was persistently low ferritin levels over the past 11 years despite not having anemia.

"We continually tried to raise my iron levels with food and supplementation, but nothing would work."

He said he followed a plant-based diet, trained intensely, used a sauna and hyperbaric oxygen therapy, and took iron supplements, yet his iron levels remained low.

Ferritin stores the body's iron. Iron is essential for transporting oxygen and producing energy, and low iron levels can lead to fatigue, weakness, and dizziness.

Johnson said autoimmune gastritis is difficult to diagnose because its earliest clue is often overlooked.

"The earliest clue, low ferritin, is the one standard medicine waves through. Low iron stores get normalized and rarely investigated at all when anemia hasn't shown up yet. That blind spot is what hid mine for a decade."

While initially it wasn't clear why his iron levels were continuously dipping, after further testing, Johnson's team identified three interconnected issues.

Read More: Bryan Johnson Battles Autoimmune Gastritis: Which Parts Of His Longevity Guide Are Actually Worth Copying?

Autoimmune Gastritis was preventing normal iron absorption by damaging the stomach cells that produce acid. He also discovered autoimmune thyroid disease.

"The iron deficiency, the autoimmune gastritis driving it, and the autoimmune thyroid disease alongside it. Iron and thyroid feed each other both ways; low iron impairs the conversion of thyroid hormone into its active form, and an underactive thyroid impairs how the body uses iron," Johnson explained.

Iron Deficiency May Be More Common Than Many Realize

According to research published in JAMA Network Open, about one in four Americans may have inadequate iron intake or absorption.

As per the study of more than 8,000 Americans, 14 per cent of adults had absolute iron deficiency, reflecting depleted iron stores.

Even after excluding common causes such as anemia, pregnancy, heart failure, and chronic kidney disease, 11 per cent remained iron deficient. Another 15 per cent had functional iron deficiency, where iron levels appear normal but the body cannot use the mineral effectively.

How Bryan Johnson Is Managing The Condition

Since receiving the diagnosis, Johnson has begun iron infusions, which deliver a full dose of iron in a single treatment.

He said his team will continue routine monitoring of his ferritin and iron levels.

Johnson ended his post with a warning that hidden health conditions can go unnoticed for years.

"You too may have a lurking health issue that is undiagnosed and could increase in severity from unhealthy life choices, without your knowing… A gentle nudge that minding your health, no matter your situation in life, is a good decision-making."

A recent study has indicated that following a healthy diet consistently may help reduce the risk of dementia, even in those who already show early signs of Alzheimer's disease. The study could help in early management of neurodegenerative diseases like dementia.

Anti-Inflammatory Diet May Help Lower Dementia Risk

According to a new study published in the JAMA Network Open, scientists found that participants who maintained better-quality diets over a period of 15 years were less likely to develop dementia, regardless of whether their blood tests indicated the presence of Alzheimer ’s related biomarkers.

The findings also suggest that healthy eating habits may benefit even after the individual shows signs of the disease processes have begun.

About The Study And Its Results

The researchers followed middle-aged and older adults one and a half decades, examining their dietary habits alongside blood biomarkers associated with Alzheimer's disease, including phosphorylated tau217 (p-tau217), glial fibrillary acidic protein (GFAP), and neurofilament light (NfL).

These biomarkers are commonly used to detect early Alzheimer's-related changes and neurodegeneration before symptoms of the disease become visible.

The participants followed a healthy diet, particularly a Mediterranean-style as well as an anti-inflammatory diet. The findings showed that individuals with healthier diets had a lower risk of developing dementia over the follow-up period.

Remarkably, this association was observed even among participants who presented Alzheimer's biomarkers, indicating that diet may offer protective benefits despite early signs.

Alzheimer's disease begins years, and sometimes decades, before memory problems emerge. During this preclinical stage, abnormal proteins accumulate in the brain while individuals remain symptom-free.

Read more: New Blood Test May Predict Alzheimer's Symptoms At Least 4 Years In Advance: Study

The new findings indicate that lifestyle factors such as diet could still influence dementia risk even after these biological changes have started. This reinforces growing evidence that preventive measures need not be limited to people without detectable Alzheimer's pathology.

Not A Preventative Measure

While the study shows promising results of the effect of a healthy diet on the neurodegenerative disease, it does not prove that diets can directly prevent dementia.

The researchers emphasized that the study was merely an observation, meaning it highlighted an association rather than a direct cause-and-effect relationship. It just supports the idea that long-term healthy eating could have a significant impact on one’s brain health throughout adulthood.

Benefits Of Anti-Inflammatory & Mediterranean Diets

The anti-inflammatory diet, as recommended by Harvard Nutrition Source, helps calm the immune system by choosing foods that reduce inflammation.

This dietary approach encourages a balance of fruits, vegetables, healthy fats, whole grains, and other nutrient-dense foods while avoiding those that trigger inflammation.

On the other hand, Mediterranean diet, long celebrated for its heart-and longevity-promoting benefits, is now gaining attention for its beneficial effects on the brain.

This diet emphasizes plant-based foods, healthy fats such as extra virgin olive oil, nuts, fruits, vegetables, and whole grains, with moderate fish intake.

In another study published in Nature Medicine, researchers observed that individuals at the highest genetic risk for Alzheimer’s disease, particularly carriers of the APOE4 gene variant, showed the most significant reduction in dementia risk when adhering closely to this dietary pattern.

Parkinson’s disease is the second most common neurodegenerative disorder in the world and is the fastest-growing neurological condition worldwide. Its classic hallmarks - resting tremor, bradykinesia, and rigidity usually lead to diagnosis only after extensive dopaminergic neuronal loss has already happened. Newer research, however, highlights a prodromal window that might open decades earlier. There’s an increasing theory that pathological changes of the nervous system could start in a person’s 20s. This means that early detection is not just desirable but could be transformative for clinical outcomes.

Individuals with PD at prodromal and early motor stages alike report symptoms in multiple domains, including behavioral, cognitive, autonomic, sensory, sleep-related, and activities of daily living. Most of these symptoms are subtle and overlap with common conditions, so they aren’t often recognized or are mistaken for ageing, stress or other lifestyle factors. So, identifying consistent patterns amid daily behavioral variations is crucial for improving early PD detection.

Sleep Disturbances: An Early Warning Sign

One of the most robust prodromal markers is REM sleep behavior disorder (RBD). People who are affected have sleep disruption, physically act out their dreams during REM phase (acting out dreams), and vivid dream life and some through sleepwalking — all of them worthy substrates for signals of early brainstem pathology.

Loss of Smell May Appear Years Before Diagnosis

Anosmia, a partial or complete loss of the sense of smell, could be PD’s earliest recognizable sign, occurring as much as 10 years before motor signs become apparent. In practice, this means being unable to easily perceive familiar smells like food or coffee. Because this symptom manifests so early and appears so unrelated to the health of the brain, it is rarely taken seriously in clinical practice.

Gut Changes and the Brain Connection

Chronic constipation is a common prodromal symptom indicating reduced gut motility that can predate motor symptoms by years. This observation is consistent with the gut–brain axis hypothesis: gut microbiota dysbiosis disrupts gastrointestinal motility, permeability and inflammation, which may facilitate a prion-like transmission of misformed alpha-synuclein (α-syn) from gut to brain through the enteric nervous system.1 further underscoring the biomarker potential of gastrointestinal symptoms with clinical relevance.

Subtle Changes in Movement and Mood

Before tremors are apparent, there can be subtle changes in fine motor control. Trouble with tasks such as handwriting, using electronic devices or manipulating small objects, along with uncharacteristic anxiety or a low mood, can serve as signals of the preclinical stage. Micrographia (progressively smaller and cramped handwriting) is a particularly telling sign from daily life that deserves a neurological workup when it appears without an obvious cause.

Fatigue and Autonomic Symptoms Can Precede Motor Signs

Fatigue that never seems to get better with rest affects work performance, social engagement and daily motivation, and can occur long before an official diagnosis. More than half of all PD patients develop at least one form of autonomic dysfunction, which can precede motor symptoms by four years or more, and is now being recognized as a key prognostic biomarker for prodromal PD. Cardiovascular instability, orthostatic hypotension, and urinary irregularities further influence how individuals navigate everyday environments long before a definitive diagnosis is made.

Recognizing Early Signals Can Transform Care

The evidence reviewed here collectively supports a paradigm shift: Parkinson's disease is best defined as systemic, progressive, and with recognizable signals in daily life long before motor signs of decline. Disrupted sleep, anosmia, gastrointestinal changes, fine motor difficulties and chronic fatigue are not complaints in a vacuum; they are potential early signs of a neurological process left unsupervised and now in motion. Incorporating routine clinical assessment of these behavioural precursors and pre-motor signs would allow us to meaningfully extend the opportunity for therapeutic intervention, which could in turn improve patient outcomes across a broad range of CNS disorders.