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.”

"A woman dies from cervical cancer every two minutes," says the United Nations (UN). The UN notes that cervical cancer is the fourth most common cancer in women. Stating a case studies, UN noted that Jeanette, who was diagnosed with cervical cancer, died a year after she was diagnosed. Every January, during the Cancer Awareness Month, the UN and the World Health Organization (WHO) underscore that the illness is both preventable and curable. The WHO tweeted that cervical cancer would be the first cancer ever in the world to be eliminated, if 90% of girls are vaccinated, 70% of women are screened, and 90% of women with cervical cancer receive treatment.

What Is Cervical Cancer?

Cervical Cancer is a type of cancer that develops in layers of the cervix. It is caused by abnormal cell growth that can spread to another part of your body. There are two main types of cervical cancer. These are squamous cell carcinoma and adenocarcinoma.

Cervix is located in the pelvic cavity, about 3 to 6 inches inside the vaginal canal. It serves as the entrance to the uterus to the vagina. As per the World Health Organization (WHO), almost all cervical cancer are linked to human papillomaviruses (HPV) which are transmitted through sexual contact.

In 2022, around 660,000 women were diagnosed with cervical cancer globally and nearly 350,000 lost their lives to the disease, according to the World Health Organization. UNICEF warns that cervical cancer claims a woman’s life every two minutes.

Nearly all cases are linked to human papillomavirus, a very common sexually transmitted infection. While most people clear HPV naturally, persistent infection with high-risk strains can lead to cancer.

What Are The Symptoms Of Cervical Cancer?

Cervical cancer has no symptoms in the early days and therefore, is hard to detect until it has spread.

Early-Stage Cervical Cancer Symptoms

• Vaginal bleeding after sex
• Vaginal bleeding post-menopause
• Vaginal bleeding between periods or unusually heavy/long periods
• Watery vaginal discharge with a strong odor or containing blood
• Pelvic pain or pain during intercourse
• Advanced Cervical Cancer Symptoms (when cancer has spread beyond the cervix):

Persistent symptoms of early-stage cervical cancer

• Painful or difficult bowel movements or rectal bleeding
• Painful or difficult urination or blood in the urine
• Persistent dull backache
• Swelling of the legs
• Pain in the pelvis or lower abdomen

How Can Cervical Cancer Be Prevented?

Cervical cancer is largely preventable and, when detected early, highly treatable. The World Health Organization recommends HPV vaccination for girls aged 9 to 14, before they become sexually active, along with regular cervical screening from age 30, or 25 for women living with HIV.

Despite this, unequal access to vaccination, screening and treatment continues to drive higher rates of illness and deaths in regions such as sub-Saharan Africa, Central America and Southeast Asia.

Chickenpox vaccines in UK is now available for all young children on the NHS. This is the first time such protection against chickenpox has been offered. The vaccine will combine with the existing MMR jab, which is given at 12 and 18 month of age that is already known to protect against measles, mumps and rubella. Children up to the age of six can catch up on doses when invited.

What Is The New Chickenpox Vaccine?

The new vaccine is called the MMRV vaccine, where the V stands for varicella, this is another name for chickenpox. It is also expected to reduce the many thousands of families affected by the infection each year and prevent the most severe cases. As of now, parents would have to pay £200 to buy a vaccine privately to protect their children.

From January 1, the MMRV vaccine was introduced into the standard list of children's vaccinations in England, Wales and Northern Ireland, with Scotland announcing a rollout start date in early January.

How Common Is Chickenpox?

Chickenpox is very common among young children. Some of the common symptoms include itchiness, spotty rash which blisters then scabs over. Children could feel unwell for several days along with fever and muscle aches.

"For some babies, young children and even adults, chickenpox can be very serious, leading to hospital admission and tragically, while rare, it can be fatal," said Dr Gayatri Amirthalingam, deputy director of immunization at the UK Health Security Agency.

Chickenpox is caused by the varicella zoster virus, which is why the letter “V” has now been added to the standard MMR vaccine. The illness mainly affects children, but anyone can catch it at any age.

Also Read: NHS Rolls Out Chickenpox Vaccine For Kids— What Parents Should Know

During the pandemic, chickenpox cases fell sharply due to lockdowns and reduced social contact. As a result, experts believe natural immunity to the virus across the population remains lower than usual.

Although uncommon, complications can include serious bacterial infections such as group A streptococcus, brain swelling known as encephalitis, lung inflammation called pneumonitis, and even strokes. Very young babies under four weeks old face a higher risk of severe illness, as do adults who have never had chickenpox before.

Why Is The NHS Rolling It Out Now?

Until now, chickenpox vaccination was not routinely offered to all children because of long-standing concerns about shingles. Shingles is caused by the same virus, which can lie dormant in the nervous system for years before reactivating later in life, often when immunity weakens due to age, illness, or stress.

In 2009, the Joint Committee on Vaccination and Immunization decided against a nationwide rollout, fearing it could increase shingles cases among middle-aged adults. At the time, it was thought that natural exposure to chickenpox helped protect against shingles later on. More recent research from the United States, however, has challenged and largely dismissed that theory, paving the way for the NHS decision.

Micro-habits. What are they? Many claim that these micro-habits can, in fact transform your life. Every new year, we come up with goals and ambitions, while some changes could be long lasting ones, some are small, almost like mundane habits. These habits are not much demanding, but they can fit into your lives seamlessly and change your life, for good.

They do not bring instant transformation, but could help you stay healthier and in fact, live longer.

Here are some micro-habits that you too can adopt.

Movement

Ensure that movement is non-negotiable in your plan. There have been many studies that say that you no longer need 10,000 steps to achieve your fitness goal. In fact, 4,000 steps per day could help you stay fitter. Your fitness journey could start by ensuing that you ensure your body is under movement, whether it is step count, light stretching between meeting and long hour at desk or ditching that escalator or elevator for stairs.

Light Is A Must

Make sure you give expose yourself to enough light. Natural light is important for your body's circadian rhythm. This also supports better sleep, better mood and sharper focus.

Coffee, But Timely

Your body has cortisol that is naturally released in the morning. This hormone helps you to wake up. However, drinking coffee too early could interfere this rhythm, and you may find yourself crashing later in the day. Make sure you drink water and keep yourself hydrated.

Mindful Eating

Ensure that whenever you are having a meal, you are eating without distraction. This also helps you regulate your appetite and you become more aware of your hunger as your body is better able to give the fullness cues.

A Set Bedtime

Try to ensure consistency of when you sleep. If you sleep at the same time each night, it can help you strengthen your circadian rhythm. This consistency will also affect your mood, concentration and energy. The best part, this will help you avoid the social jetlag.

Read: Not Boarded Any Flight And Still Monday Feels Like A Jetlag? You Are Not Alone

Breakaway From Alcohol

While there is no safe limit for alcohol consumption, if you are pressured about long-term leaving alcohol, try to give yourself a break. Try a 7-day no alcohol week, every now and then.

Listen To Your Cravings

If you are craving something salty, chances are your body lacks magnesium. There are many ways that craving tells you a lot about your body. Ensure that you run a full-body check to know what your body lacks. Fulfill these lacks with supplements, however, do make sure that these supplements are prescribed by your GP.

Read Labels

Mindful eating also comes when you start reading the labels of the food items you are buying. This way, you can know what you are putting in your gut system. Pay special attention for added sugars, processed food, and more.

Keep Your Gut-health Healthy

Go for pro-biotics, easy breakfasts like fermented rice, yogurt, khimchi and more. There are many studies that show the connection between gut health and rest of the body. If you keep your gut healthy, you will keep your body healthy too.

Timely Screening

A routine screening would help you stay one-step ahead of any disease. The key is that early diagnosis could cure the disease sooner without reducing the quality of life.