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.”

Malaria is widely known as a mosquito-borne disease that causes fever, chills, and body aches. But what many people don’t realize is that in severe cases, it can also affect the heart.

Malaria is caused by parasites belonging to the Plasmodium genus. It may cause complications beyond the bloodstream. In some cases, this may happen in severe malaria, where either the diagnosis or treatment is late.

How Malaria Infection Affects The Heart

Speaking to HealthandMe, Dr. Ravi Prakash, Senior Consultant Cardiology, PSRI Hospital, Delhi, noted that malaria affects different parts of the body, depending on the severity and the patient's immunity.

"In severe malaria cases, the parasite that causes malaria infects the red blood cells, making them sticky. When these stick together, the cells block the flow of blood in smaller blood vessels, limiting oxygenation of important organs, including the heart," Dr Prakash explained.

The condition may then result in myocarditis, arrhythmias, or heart failure. Although these complications rarely affect the heart, they require prompt medical intervention.

Further, Dr. Rakesh Pandit, Senior Consultant & HOD, Internal Medicine, Aakash Healthcare, highlighted that malaria can put stress on the heart either directly or indirectly.

It can lead to inflammation of the heart and result in chest pains, fatigue, or arrhythmia.

"Patients suffering from severe malaria may develop tachycardia or, in worst-case scenarios, experience heart blockage," Dr. Pandit told HealthandMe.

The Role of Anemia

Furthermore, malaria infection may limit the blood flow to the heart by increasing the stickiness of the blood, thus blocking small blood vessels.

"Anemia associated with malaria can increase the load on the patient's heart," Dr Pandit said.

Fever, dehydration, and hypoxia further increase cardiac stress in malaria patients, who may end up having their pre-existing heart conditions unmasked.

Malaria: Early Signs Of Heart Damage?

Early detection is important. Besides classic malaria symptoms such as fever, sweats, shivers, headaches, and tiredness, any unusual symptoms such as chest pains, difficulty breathing, rapid heartbeats, or excessive weakness must be considered carefully.

"These could be signs of organ damage caused by the disease, which means early diagnosis and treatment are vital. Blood tests will be conducted to identify malaria parasites in your body," Dr. Prakash said.

Malaria And Heart: Who Is At More Risk

Some individuals are more susceptible to contracting malaria, which increases their chances of developing complications from the disease.

These include

• children,
• pregnant women,
• the elderly,
• immunocompromised patients.

"People who have underlying diseases may develop heart-related problems due to the malaria infection," Dr Prakash said.

Moreover, travelers to malaria-endemic areas without adequate protection from the disease are also likely to be affected.

How To Prevent?

The best method to avoid contracting malaria is to take preventive measures.

• Individuals must protect themselves from mosquito bites.
• Applying insect repellents, sleeping under mosquito nets, and covering your arms and legs when you go out are effective ways to shield yourself from being bitten.
• Proper hygiene and sanitation practices are necessary to prevent mosquitoes from reproducing.
• Having a good general health status is another preventive measure. Your immune system must be able to combat invading agents.

Malaria is usually understood as a fever illness, with symptoms such as chills, sweating, body ache, weakness, and in severe cases, anemia or organ complications. But for women, especially in malaria-prone regions, its impact can be more layered.

It can disturb the body’s hormonal rhythm, worsen fatigue, complicate menstrual symptoms, and create confusion between infection-related pain and period-related discomfort. That is why malaria should not be seen only as a seasonal mosquito-borne disease, but also as a health concern that can affect women’s reproductive and menstrual well-being.

India has made strong progress against malaria. According to the Government of India, reported malaria cases fell from 11.6 lakh in 2015 to 2.27 lakh in 2023, a reduction of roughly 80%. Malaria-related deaths also declined from 384 to 83 in the same period, a fall of about 78%. This shows that prevention, testing, surveillance, and treatment have improved significantly.

At the same time, malaria has not disappeared. The risk remains higher in endemic, tribal, forested, and hard-to-reach areas, where mosquito exposure, delayed testing, limited access to care, and anemia can make the illness more difficult to manage.

How Malaria Dents Menstrual Health

The connection begins with the body’s stress response. Malaria infection does not remain limited to the bloodstream. Research on hormones in malaria shows that the infection can affect host metabolism and create hormonal imbalances, with changes influenced by parasite type, disease severity, immune response, age, sex, nutrition, and stage of infection.

The research notes that malaria can dysregulate the hypothalamic-pituitary-adrenal, thyroid, and gonadal axes, which are central to stress, metabolism, and reproductive hormone regulation.

For menstrual health, this matters because periods are not controlled by the uterus alone. They depend on coordination between the brain, ovaries, and hormones such as estrogen and progesterone. When the body is fighting malaria, that rhythm can be disturbed.

Fever, inflammation, poor appetite, weakness, anemia, and high physical stress can make periods late, lighter, heavier, or more exhausting than usual. In some women, premenstrual symptoms such as body ache, fatigue, abdominal discomfort, and mood changes may also feel worse because malaria itself produces overlapping symptoms.

There is also a direct hormonal pathway to consider. Cortisol, often called the stress hormone, is reported to rise in both P. falciparum and P. vivax malaria. High cortisol can affect immune function and may also disturb the wider hormonal balance on which regular ovulation and menstruation depend.

The same research notes that lower estradiol has been reported in severe falciparum malaria, while progesterone levels have also been reported to be lower in patients with P. falciparum malaria.

These findings do not mean every woman with malaria will have menstrual changes, but they do show that malaria can interfere with the hormonal systems linked to reproductive health.

Link Between Malaria And Anemia in Women

Anemia is another important link. Malaria can destroy red blood cells and contribute to severe anemia. Menstruation, especially heavy bleeding, can also lower iron stores. When both happen together, the result can be extreme tiredness, dizziness, breathlessness, paleness, poor concentration, and slower recovery.

This is particularly relevant in India, where anemia among women is already a major public health concern. A woman recovering from malaria who also has heavy periods should not dismiss prolonged weakness as “normal period fatigue.”

Malaria: Delayed Symptoms In Women

One reason diagnosis can be delayed is that malaria symptoms are often nonspecific. WHO lists fever, headache, and chills as common early symptoms, and says early testing is important because symptoms may initially resemble many other fever illnesses. In women, body ache, fatigue, abdominal discomfort, and weakness may be mistaken for PMS, a painful period, viral fever, or early pregnancy unless malaria is actively considered.

The risk is even more serious during pregnancy, including early pregnancy when a woman may not yet know she is pregnant. WHO states that malaria during pregnancy can cause premature delivery or low birth weight, and it is also noted that pregnancy reduces immunity to malaria, increasing the risk of severe anemia and illness.

The practical message is simple: if fever with chills, severe body ache, vomiting, unusual weakness, dizziness, or headache appears around the time of a period, it should not automatically be treated as PMS or “period weakness,” especially after travel to or residence in a malaria-prone area.

A malaria test should be done promptly, and treatment should be taken only under medical supervision.

Malaria can affect menstrual health by placing stress on the body’s blood, hormones, immunity, and energy reserves. For women, recognizing this connection can help prevent delayed diagnosis and support faster recovery.

When it comes to gas, bloating, and "acidity," it is easy to think that these are simply a case of IBS or nervousness about eating. However, gastric cancer is one of the most frequent causes of cancer-related deaths in the world, including in India, where it is a common form of gastrointestinal cancer. In some cases of early gastric cancer, the symptoms are so similar to other digestive troubles that it could prove fatal to ignore the warning signs.

In an interaction with Health and Me, Dr Rakesh Kumar Sharma, Senior Consultant Medical Oncologist at M | O | C Cancer Care & Research Centre, Gurugram, spoke about the symptoms of stomach cancer and how it can often be confused with IBS.

Why is IBS confused with stomach cancer?

IBS is a functional gastrointestinal condition, which means the patient’s gut may seem fine, but it is not functioning properly. Common complaints in IBS include abdominal pain, bloating, diarrhoea, and constipation. Patients may notice a pattern in which their symptoms come and go over several months and may even associate them with food triggers or emotional stress.

However, IBS does not cause ulcers, bleeding, or intestinal damage, and patients have no greater likelihood of developing cancer when evaluated properly. This means that since many symptoms of IBS, inflammation, and cancers can overlap, there is a risk of diagnosing something serious as “just IBS."

What are the symptoms of stomach cancer?

Stomach cancer commonly begins in the inner lining of the stomach and usually presents with non-specific and subtle symptoms in its early stages. Common complaints include continuous indigestion and heartburn that fail to respond to common anti-acidity medication. Early satiety is another common complaint, whereby patients feel full too soon during meals, along with upper abdominal discomfort and heaviness. Other common symptoms include bloating, nausea, and gradual loss of appetite over weeks.

It is important to differentiate early-stage gastric cancer from simple acidity and IBS, since the latter conditions usually show periodic improvement and respond to common medications. However, if the above symptoms persist for two to three weeks without relief despite basic management, further evaluation may be required, especially in middle-aged and older patients.

Stomach cancer symptoms to never miss

There are certain symptoms that should never be overlooked and are regarded as red flags requiring prompt investigation for possible stomach cancer:

1. Sudden weight loss and poor appetite
2. Concurrent vomiting and regurgitation
3. Dysphagia or difficulty swallowing
4. Melena or hematochezia
5. Anaemia (reduced haemoglobin level), tiredness, and weakness due to chronic blood loss
6. Ongoing or progressive upper abdominal pain or a lump in the upper part of the abdomen

Any of these require immediate attention, regardless of an IBS diagnosis.

Who is at an increased risk?

Persistent infection by the bacterium Helicobacter pylori is the most well-established risk factor for the development of stomach cancer, primarily lower stomach cancers. H. pylori infections affect about half the global population and may lead to chronic inflammation, ulcers, and eventually precancerous changes in the stomach lining. High dietary consumption of salt, pickled or smoked foods, and processed meats increases the risk, especially when there is an existing H. pylori infection.

Smoking and alcohol abuse independently contribute to an increased risk of gastric cancer, along with obesity and specific genetic or familial risk factors. There are higher rates of gastric cancer in some parts of India, with the majority of cases being detected at later stages of the disease. This emphasises the importance of early detection and evaluation in populations with a high burden of gastric cancer.

When should you be alarmed?

You do not have to worry about every episode of acid reflux, but you should never dismiss anything unusual that occurs in your body. You need to consult your doctor if your indigestion, epigastric pain, early satiety, and bloating persist for two to three weeks even after conventional treatment. You experience alarming symptoms such as weight loss, vomiting, dysphagia, black stools, and anaemia