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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.
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.
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.
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.
Shum believes HAQ-STING could lead to game-changing treatments, including:
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.”
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Thyroid disorders don’t just affect women — it also affects men and raise fertility risks, said experts today on World Thyroid Day.
While thyroid disorders are commonly linked to symptoms such as weight gain, fatigue, mood swings, and hair loss, experts highlighted a lesser-known impact of thyroid imbalance — its effect on male fertility and reproductive health.
Dr. Piyush Lodha, Endocrinologist at Ruby Hall Clinic, Pune, told HealthandMe that both hypothyroidism (underactive thyroid) and hyperthyroidism (overactive thyroid) can negatively affect sperm health and reproductive function in men.
“The thyroid regulates several important body functions, including metabolism and hormone balance. Even slight thyroid dysfunction can influence fertility because thyroid hormones are closely connected to reproductive hormones,” he explained.
The doctors noted that thyroid hormones play an important role in sperm production, sperm maturation, libido, and sexual performance.
In hypothyroidism, reproductive processes may slow down significantly. Men may experience low testosterone levels, reduced libido, erectile dysfunction, and poor sperm quality.
Dr. Lodha noted that hypothyroidism can negatively affect sperm count, sperm motility, and sperm morphology, lowering the chances of successful conception. Fatigue, depression, and weight gain associated with thyroid disorders may further impact sexual health and self-esteem.
Hyperthyroidism can also affect fertility. Excess thyroid hormone may disturb the hormonal balance required for normal sperm production.
“In men, hyperthyroidism can lead to premature ejaculation, increased oxidative stress, and damage to sperm cells. In some cases, sperm concentration and semen volume may also decrease,” he said.
The expert warned that thyroid-related fertility issues often remain undiagnosed because symptoms develop gradually or are mistaken for stress and lifestyle-related problems.
The expert stressed that timely diagnosis and treatment can significantly improve reproductive health.
“With hormonal therapy, dietary modifications, and regular monitoring, sperm health and reproductive function can improve over time,” Dr. Lodha explained.
He advised men experiencing unexplained infertility, sexual dysfunction, or persistent fatigue to undergo comprehensive reproductive health evaluations, including thyroid function tests.
Dr. Anu Mathew, Consultant Endocrinology, Fortis Hospital, Manesar, told HealthandMe that while women are more at risk, thyroid disorders can also affect men and children, and a lack of awareness often delays diagnosis.
She added that thyroid disorders are increasingly being linked to lifestyle-related factors, despite autoimmune disease remaining the most common cause.
Also read: Heatwaves And Toxic Air Create A Growing Health Crisis In Delhi
Dr. Anu pointed out that subclinical hypothyroidism (SCH) — characterized by elevated thyroid-stimulating hormone (TSH) with normal T3 and T4 levels — has shown strong associations with lifestyle factors in several studies.
“Both iodine deficiency and iodine excess have been associated with thyroid disorders. Lack of sleep, poor sleep quality, chronic stress, smoking, and sedentary lifestyles may also contribute to thyroid dysfunction,” she said.
According to experts, subclinical hypothyroidism has also been associated with increased risks of cardiovascular disease, insulin resistance, and metabolic syndrome.
The doctors, thus, stressed the importance of healthy lifestyle changes to prevent thyroid dysfunction and related complications.
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Dr. Manjunath NML, Senior Consultant – Surgical Oncology and Robotic & Laparoscopic Surgeon at HCG Cancer Hospital, Bengaluru, told HealthandMe thyroid cancer is often difficult to detect early because it grows slowly and may initially cause painless or nonspecific symptoms.
“Small thyroid nodules may go unnoticed because they are not always visible or palpable during routine examinations,” he explained.
Detection may become even more challenging in obese patients, where larger nodules can remain hidden.
Doctors also highlighted that cancerous nodules may sometimes be concealed within multinodular goitre, a condition commonly associated with iodine deficiency and more frequently seen among women in endemic regions.
Other reasons for delayed diagnosis include lack of awareness, socioeconomic barriers, and limited access to specialists and diagnostic technologies such as ultrasound and FNAC (fine needle aspiration cytology).
Experts noted that imaging tools like the TIRADS (Thyroid Imaging Reporting and Data System) scoring system play an important role in classifying thyroid nodules as benign, suspicious, or malignant, helping guide appropriate treatment decisions.
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When people gain weight, the first thought often revolves around poor eating habits or a lack of physical activity in their daily routine. While that may be true, the cause of weight gain may be more than what meets the eye. One could have gained weight gradually despite the lack of significant changes in his/her lifestyle. In such cases, an underlying health condition such as a thyroid disorder could be contributing.
The thyroid is a small gland found in the neck region. But it plays a huge part in the body’s activities. This gland secretes hormones that control metabolism, i.e., the body’s capability to convert food into energy. The hormones released by the thyroid control many other body functions, including heart rate, body temperature, etc.
When the thyroid gland becomes underactive, a condition called hypothyroidism occurs, and it causes bodily functions to slow down. In turn, metabolism may be reduced, causing some alterations in people's well-being.
People suffering from hypothyroidism may experience other common symptoms besides weight gain, such as fatigue, lack of energy, constipation, dry skin, hair loss, mood swings, and intolerance to cold temperatures. However, thyroid-related weight gain is often misunderstood. It is usually gradual and may not always be dramatic. In many cases, the change can happen because of slowed metabolism and fluid retention.
Not every person who gains weight has a thyroid problem, and not every thyroid patient experiences noticeable weight changes. Weight is influenced by many factors, including sleep, stress, age, and overall health.
However, if weight gain feels unexplained and is accompanied by other persistent symptoms, it may be worth seeking medical advice. Simple tests can help assess thyroid function and identify problems early. Sometimes, understanding the reason behind weight changes can be the first step toward better health.
The good thing here is that thyroid-related conditions are easily manageable after proper diagnosis. Treatment for hypothyroidism entails administering medications that help normalize hormonal levels in the body. Such therapy helps in balancing metabolic processes naturally.
Along with medical treatment, lifestyle measures remain important. Maintaining a balanced diet, regular physical activity, adequate sleep, and stress management can support overall metabolic health and help improve quality of life. However, people should avoid self-medicating with supplements or relying on unverified remedies claiming to “boost” thyroid function.
As awareness around metabolic health grows, World Thyroid Day is an opportunity to move beyond assumptions. Understanding the connection between thyroid function and metabolism can help people recognize symptoms early and seek timely care. Sometimes, the body may be signaling that there is more to the story than lifestyle alone.
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The ongoing Ebola outbreak in Africa, with nearly 1,000 cases and over 200 deaths, has sparked concerns among people, bringing back memories of the COVID-19 pandemic. With every new outbreak, fears about viruses becoming airborne like SARS-CoV-2, the virus behind COVID-19, tend to rise.
However, experts have clarified that Ebola is not airborne and does not spread like COVID-19.
“Ebola is a serious viral hemorrhagic disease,” said Dr. Ishwar Gilada, Secretary General, People’s Health Organisation (India).
“Ebola does NOT spread through casual airborne exposure like influenza or COVID-19. Individuals become infectious only after symptoms begin, not during the incubation period. The incubation period ranges from 2 to 21 days,” he added.
Former AIIMS Director Dr. Randeep Guleria told PTI that Ebola is “a zoonotic infection, mainly originating in bats.”
“Ebola does not spread through air like respiratory viruses. It spreads only through direct contact with infected body fluids,” he added.
Experts further explained that Ebola is far more difficult to spread than airborne respiratory viruses such as influenza, COVID-19, measles, and even the Andes strain of hantavirus, which recently caused an outbreak on a cruise ship.
“Ebola is not airborne. There's no evidence of that at all. To be infected, you've got to have body fluid contact with someone who is quite ill,” said Michael T. Osterholm, Director of the Center for Infectious Disease Research and Policy (CIDRAP) at the University of Minnesota.
According to Peter Hotez, Dean of the National School of Tropical Medicine at Baylor College of Medicine, people with Ebola do not spread the virus before developing symptoms.
The experts reiterated that during Ebola’s incubation period, which ranges from 2–21 days, an infected person is generally not contagious, unlike COVID-19, where transmission can occur before symptoms appear.
Moreover, even early Ebola symptoms such as fever, sore throat, headache, and body aches are less likely to spread the virus compared to respiratory infections.
Ebola does not spread through coughing, sneezing, or casual contact like shaking hands.
“You cannot get Ebola from passing someone in an airport, sitting near someone freely, or through other casual contacts,” explained Captain Satish K. Pillai, Incident Manager for Ebola Response at the US Centers for Disease Control and Prevention (CDC).
Also read: Ebola Cases Cross 900, Death Toll Tops 200; 10 Countries On High Alert
Ebola spreads through:

Common Symptoms Of Ebola
Common symptoms include:
Severe illness may involve:
Historical case fatality rates have ranged from 25% to 90%, depending on the virus strain, outbreak conditions, and access to timely medical care.
Dr Gilada stressed the importance of:
The expert also urged authorities to strengthen “science, surveillance, preparedness, and infection control” to curb the spread of the disease.
Dr Guleria called for stricter infection control, timely isolation, and avoiding direct contact with infected persons remain key preventive measures. They also noted that Ebola outbreaks have largely remained confined to Africa due to effective containment efforts.
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