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.”

It was during the COVID-19 pandemic that Annabelle Gurwitch, an American author, actress, and television host, developed a "a little persistent cough".

Suspecting it to be a COVID symptom, Annabelle went for a check-up. Her doctor alarmingly informed her about something suspicious on her lungs. Soon after, an X-ray and a biopsy confirmed her diagnosis of stage 4 cancer.

But, here's the catch. Annabelle is a non-smoker. She also lived a healthy lifestyle and exercised every day, and felt like she was in really good health, besides the persistent little cough.

Also read:American Author Annabelle Gurwitch Writes New Memoir On Stage-4 Lung Cancer Diagnosis

HealthandMe spoke to health experts to understand how a persistent cough signals the risk of lung cancer.

If you, too, are a non-smoker who is leading a healthy lifestyle and has no medical conditions other than a persistent cough, then you must visit your doctor right away, advised the experts.

"A persistent cough can be an early warning sign of lung cancer, especially when it shows specific features rather than behaving like a routine respiratory illness," Dr Sameer Khatri, Principal Director - Medical Oncology, Max Super Speciality Hospital, Patparganj, told HealthandMe.

The doctor noted that the cough becomes suspicious when it persists beyond three weeks without a clear cause or fails to respond to standard symptomatic treatment such as cough syrups, bronchodilators, etc.

"A change in a pre-existing smoker’s cough—for example, becoming more frequent, severe, or different in character—is particularly important. In non-smokers, a new, unexplained chronic cough should not be ignored," Dr. Khatri said.

Certain associated symptoms further strengthen the suspicion of cancer. The most significant is hemoptysis, the coughing up of blood or blood-stained mucus, even if minimal.

Other red flags include

• unintentional weight loss,
• chest pain,
• breathlessness,
• hoarseness,
• recurrent pneumonia in the same lung region.
• age >40 years,
• smoking history, occupational exposures.

Persistent cough: TB Vs Lung Cancer

Persistent cough also signals the risk of tuberculosis (TB) -- the world's most deadliest infectious disease. Understanding the differences between these two causes is critical for early diagnosis and timely treatment.

Dr Seema Jagiasi from MOC Cancer Care Center told HealthandMe that the cough in TB may sometimes produce blood-tinged phlegm, but it is usually associated with signs of infection, such as fatigue and a general feeling of illness.

TB is more common in younger populations and in individuals with weakened immunity or poor living conditions.

"In contrast, a cough associated with lung cancer tends to be more insidious. It may start as a dry, persistent cough that gradually worsens over time. Unlike TB, it may not initially present with fever or infection-related symptoms," the doctor explained.

Also read: Suffering From Mid-back Pain? Doctors Say It May Be Spinal TB

One of the key differences lies in progression and response to treatment.

TB is treatable with a course of antibiotics, and symptoms often improve within weeks of starting therapy. However, a lung cancer-related cough persists or worsens despite routine medications.

Dr Jagiasi emphasized that any cough lasting beyond three weeks, especially when accompanied by alarming symptoms, should not be ignored.

"Early investigations, such as chest imaging and further diagnostic tests, can help distinguish between the two conditions," the doctor said.

While both TB and lung cancer may present with a persistent cough, their underlying causes, associated symptoms, and progression differ significantly.

The health experts called for more awareness and the need for timely medical evaluation for the effective management of the disease.

Irish Actor Michael Patrick, known for his significant role in Game of Thrones, has sadly passed away at the young age of 35.

Sharing the news in a post on social media platform Instagram, his wife Naomi Sheehan shared that Michael Patrick (whom she fondly calls Mick) died after a years-long battle with Motor Neurone Disease.

"Last night, Mick sadly passed away in the Northern Ireland Hospice. He was diagnosed with Motor Neurone Disease on 1st February 2023. He was admitted 10 days ago and was cared for by the incredible team there. He passed peacefully, surrounded by family and friends," Naomi said.

Calling Michael a "titan of a ginger-haired man", she said that “Words can’t describe how broken-hearted we are".

Naomi called Michael an "inspiration to everyone."

Also read: Dismissed as Anxiety: Terry Crew’s Wife Rebecca Shares Decade-Long Struggle With Parkinson’s

What Is Motor Neurone Disease (MND)

MND is a rare and progressive neurodegenerative disease. According to NHS UK, it causes muscle weakness that gets worse over a few months or years. It's usually life-shortening, and there's currently no cure, but treatment can help manage the symptoms.

Symptoms of MND include:

• stiff or weak hands
• weak legs and feet
• twitches, spasms, or muscle cramps (where muscles painfully tighten).

It makes everyday tasks such as climbing stairs or gripping objects difficult.

Also read: Grey’s Anatomy Star Eric Dane Dies After ALS Battle

As the disease advances, patients may develop difficulties with breathing, swallowing, and speech, along with changes in mood or personality. In later stages, walking and movement can become extremely limited.

Treatment of MND

About 1,500 people are diagnosed with MND each year, yet treatment choices remain scarce. Only a small proportion of patients currently qualify for therapies that target the disease process itself.

MND can be difficult to diagnose in the early stages. But as the symptoms get worse, it can usually be confirmed.

Tests used to help diagnose MND include:

• blood tests
• tests to check how well your nerves are working
• an MRI scan to help rule out other conditions that affect the brain and nerves

1. Amyotrophic lateral sclerosis (ALS): Early symptoms include muscle weakness in the arms and legs can cause you to trip and drop things.

2. Progressive bulbar palsy (PBP): It mainly affects muscles in the face, throat, and tongue, causing slurred speech and problems swallowing.

3. Progressive muscular atrophy (PMA): It causes weakness in the hands.

4. Primary lateral sclerosis (PLS): Leads to weak legs, sometimes with other symptoms, including speech problems.

Common treatment options for MND include:

• physiotherapy and exercises to help with muscle weakness and stiffness
• dietary advice to help you maintain weight
• speech and language therapist to help with talking
• Cognitive behavioral therapy (CBT) to help cope with emotions and feelings, such as anxiety and depression.

During the COVID-19 pandemic, the SARS-CoV-2 virus had a significant impact on the eyes, causing conjunctivitis (pink eye), with red, itchy, watery, or painful eyes.

A new study now shows that eye symptoms may also be key in understanding the severity of long COVID, a collection of symptoms that last three months or longer after your first COVID symptoms.

The new study, published in the journal Clinical Ophthalmology, showed that the new onset of eye symptoms in people with long COVID may be an indicator of more severe disease.

Also read: Long Covid Causes Lasting Brain Inflammation And Lung Injury, Reveals Study

Key Findings

Researchers from the Yale School of Medicine analyzed survey data from 595 adults who self-reported having long COVID in surveys conducted from May 2022 to October 2023. They found that nearly 60 percent of people reported new-onset of ocular symptoms.

The findings suggest that ocular symptoms in long COVID may be interpreted as vision-related manifestations that cluster with systemic post-COVID conditions. The symptoms include a new onset of :

• blurred or lost vision,
• dry eyes,
• floaters or flashes

Notably, individuals with ocular symptoms reported:

• A greater overall symptom burden,
• Financial difficulties,
• Challenges in everyday life.

Also read: Long COVID: The Story Of Those Who Are Still Dealing With Symptoms And Illnesses

What is Long COVID

Long COVID includes a wide range of symptoms or conditions that may improve, worsen, or be ongoing. While anyone who gets COVID-19 can develop Long COVID, studies have shown that some groups of people are more likely to develop Long COVID than others, including:

• Women
• People who have experienced more severe COVID-19 illness, especially those who were hospitalized or needed intensive care
• People with underlying health conditions
• People who did not get a COVID-19 vaccine

While many of the Long COVID conditions remain to be fully recognized, some people have more than one symptom that can be moderate to severe, and also impact the quality of life. According to the US CDC, they include:

• Tiredness or fatigue
• Difficulty thinking or concentrating (sometimes called “brain fog”)
• Shortness of breath or difficulty breathing
• Headache
• Dizziness on standing
• Fast-beating or pounding heart (known as heart palpitations)
• Chest pain
• Cough
• Joint or muscle pain
• Depression or anxiety
• Fever
• Loss of taste or smell