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.”

Preparing for parenthood is not just about a woman's health. A simple fertility health check can help men understand their reproductive health, identify potential issues early, and improve their chances of starting a healthy family. Here, the expert tells men about the vital tests they should get done if they want to embrace fatherhood.

In an interview with Health and Me, Dr. Mrunalini Jagne (Ahire), Fertility Consultant and IVF Specialist at Motherhood Fertility & IVF, Kharghar, Navi Mumbai, listed the most important fertility checks for men, and how they can go a long way in improving quality of life.

When couples plan for a baby, most of the focus is often on the mother’s well-being. However, understand that a father's health also plays an equally important role in conception and pregnancy outcomes. Are you aware? Factors such as age, lifestyle habits, medical conditions, stress, and nutrition can affect sperm quality and fertility. So, men who are planning to become fathers should consider a preconception fertility assessment to ensure they are in the best possible health before trying to conceive. Men shouldn’t miss the following fertility checks.

Fertility tests that men must go for

Semen analysis: A semen analysis is usually the first and most important fertility test for men. It helps to assess:

1. Sperm count (number of sperm)
2. Sperm movement (motility)
3. Sperm shape (morphology)
4. Semen volume

This test helps identify whether there are any issues that could make conception more difficult.

Hormone testing: Hormones play a major role in sperm production. Blood tests may be recommended to check levels of:

1. Testosterone
2. Follicle-Stimulating Hormone (FSH)
3. Luteinising Hormone (LH)
4. Thyroid hormones

Hormonal imbalances can affect fertility and may require treatment.

Lifestyle check: Many everyday habits can influence sperm health. During a fertility evaluation, doctors may assess:

1. Smoking and tobacco use
2. Alcohol consumption
3. Diet and nutrition
4. Exercise habits
5. Stress levels
6. Sleep quality

Making positive lifestyle changes can help improve fertility.

Medical and family history review: Certain health conditions can affect reproductive health. The expert may ask about:

1. Diabetes
2. Thyroid disorders
3. Previous infections
4. Varicocele (enlarged veins in the scrotum)
5. Previous surgeries
6. Family history of fertility problems

If any problems are detected, the doctor will decide the line of treatment for you.

General health screening: Overall health is closely linked to fertility. Screening for obesity, high blood pressure, vitamin deficiencies, and other health concerns can help improve both fertility and long-term well-being.

Simple tests such as semen analysis, hormone evaluation, lifestyle assessment, and general health screening can improve the chances of a healthy pregnancy and baby. Therefore, men should take these tests without wasting any further time and stay updated regarding their fertility health.

A new botulism outbreak in the United States linked to the now-recalled Nara Organics Whole Milk Organic powdered infant formula has led to hospitalization of at least three infants in three states, according to a notice from the Centers for Disease Control and Prevention (CDC).

The affected infants, aged between 2 and 5 months, are from California, Pennsylvania, and Washington state. All three have been hospitalized and are receiving treatment for infection caused by the bacterium Clostridium botulinum.

The CDC noted that on June 13, Nara Organics recalled all Nara Organics Whole Milk Organic Infant Formula products, including all lot numbers and both can sizes. The products were sold online and at major retailers nationwide.

“Testing of opened cans of Nara Organics brand formula and unopened Nara Organics product samples is underway, and results are expected in the coming weeks,” the CDC said.

This is the second recent outbreak of infant botulism linked to powdered formula. Earlier this year, investigators from the California Department of Public Health, working with federal officials and other state health departments, identified 51 suspected or confirmed cases of infant botulism across 19 states between March 2022 and December 2025. Those infants had consumed ByHeart infant formula.

What Parents And Caregivers Should Do

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The CDC has urged parents and caregivers to immediately stop using any Nara Organics Whole Milk Organic Infant Formula.

If you have unopened cans of the recalled formula, throw them away or return them. Parents should also wash any items and surfaces that may have come into contact with the formula with hot, soapy water or in the dishwasher.

Seek immediate medical attention if your infant consumed the recalled formula and develops any of the following symptoms:

• Poor feeding
• Loss of head control
• Difficulty swallowing
• Decreased facial expression

Symptoms of infant botulism can take several weeks to appear. Parents whose infants consumed the recalled formula should monitor them for symptoms for up to one month after their last exposure.

What Is Botulism?

Read More: Introducing Eggs Before Age One May Lower Allergy Risk by 17%: Study

Botulism is a rare but serious illness caused by a toxin produced by the bacterium Clostridium botulinum. The toxin attacks the nervous system and can lead to life-threatening complications if not treated promptly.

Botulism is considered a medical emergency because it can cause paralysis and breathing difficulties.

Types of Botulism

There are several forms of botulism, including:

• Foodborne botulism
• Wound botulism
• Iatrogenic botulism
• Inhalation botulism
• Infant botulism

Infant botulism is the most common form in babies between 2 and 8 months old. It occurs when Clostridium botulinum spores grow in a baby's intestines and produce toxin. Honey and contaminated soil are known sources of exposure.

Symptoms of Infant Botulism

Symptoms typically begin 18 to 36 hours after exposure and may include:

• Constipation is often the first sign
• Weak or floppy movements
• Weak cry
• Drooling
• Drooping eyelids
• Difficulty feeding or sucking
• Progressive paralysis

Infant botulism often begins with constipation but is usually first recognized through feeding difficulties, a weak or altered cry, and poor head control.

If left untreated, the illness can progress to severe paralysis, breathing difficulties, and prolonged hospitalization.

Blood disorders are often misunderstood; many people think that all serious blood-related conditions are a form of cancer. This misunderstanding is particularly common when it comes to sickle cell disease. Both sickle cell disease and blood cancers affect blood cells and can lead to significant health complications, but they are fundamentally different, with distinct causes, treatment approaches, and long-term outcomes. Understanding these differences is important not only for patients and their families but also for awareness and ensuring timely medical care.

Sickle cell disease is an inherited genetic disorder that develops in a person who inherits abnormal hemoglobin genes from both parents. Hemoglobin is the protein in red blood cells responsible for carrying oxygen throughout the body. People with sickle cell disease have red blood cells that become rigid and crescent or "sickle" shaped instead of their normal round structure. These abnormal cells can block blood vessels, reduce oxygen delivery to tissues, and break down more rapidly than healthy red blood cells. As a result, patients may experience chronic anemia, episodes of severe pain, recurrent infections, organ damage, and other complications.

How Blood Cancers Differ From Sickle Cell Disease

Blood cancers are cancers that originate in the blood-forming tissues, such as the bone marrow and lymphatic system. The most common types include leukemia, lymphoma, and multiple myeloma. Unlike sickle cell disease, blood cancers are generally not inherited and are caused by DNA mutations that occur during a person's lifetime. These mutations cause abnormal blood cells to grow, crowding out healthy cells and interfering with the body's ability to fight infections, carry oxygen, or control bleeding.

The two conditions are different, but some symptoms may overlap. For instance, tiredness, weakness, recurrent infections, and anemia can occur in both sickle cell disease and certain blood cancers. However, the underlying reasons are entirely different. In sickle cell disease, symptoms arise because of abnormal hemoglobin and sickling of red blood cells. In blood cancers, symptoms result from the uncontrolled growth of malignant cells within the bone marrow or lymphatic system.

Difference in Diagnosis And Treatment

Diagnoses for both diseases differ. Sickle cell disease is usually identified through specialized blood tests that detect abnormal hemoglobin. In many cases, it can be diagnosed early in childhood. Blood cancers require a combination of blood investigations, bone marrow examinations, imaging studies, and specialized laboratory tests to establish the diagnosis and determine the specific cancer subtype.

The treatment approaches for these disorders reflect these differences. Management of sickle cell disease focuses on preventing complications, controlling symptoms, reducing pain crises, preventing infections, and improving quality of life. Certain patients may benefit from advanced therapies, including stem cell transplantation and emerging gene-based treatments.

Why Awareness Matters

Blood cancer treatment depends on the type and stage of disease and may require chemotherapy, targeted therapy, immunotherapy, stem cell transplantation, radiation therapy, or newer cellular therapies such as CAR-T cell therapy. The treatment plan is individual-based, depending on factors such as the specific cancer subtype, disease burden, patient age, pre-existing conditions, and overall health.

While medical advances are transforming outcomes for both conditions, improved screening infrastructure and programs, better care, advances in transplantation, targeted therapies and innovative cellular treatments are helping patients live longer and healthier than ever before. That said, awareness remains the first step towards better outcomes. Knowing the differences between sickle cell disease and blood cancers can help reduce confusion, support early diagnosis, and timely intervention.

(By Dr. Narendra Agrawal, Sr. Consultant – Hemato Oncology & Bone Marrow Transplant, Rajiv Gandhi Cancer Institute & Research Centre (RGCIRC), New Delhi)