For all major diseases, early detection is key to improving treatment outcomes. However, when it comes to rare diseases, it is unpredictable, making it more challenging to diagnose. In such a scenario, Artificial Intelligence (AI) is playing a major role -- from early diagnosis to treatment, said health experts on Rare Disease Day.

Rare Disease Day is annually observed on February 28 to raise awareness about the lesser-known conditions and the underlying challenges for people suffering from them.

While many of the rare disorders are genetic, they often also surface without any prior family history. In some cases, they are diagnosed in infancy, while in others the manifestation is years late.

The advanced AI technology is, however, now enabling clinicians to better understand the patients’ genetic profiles and patterns that were not clearer earlier. The technology is also paving the way for earlier and more accurate diagnoses, bringing hope to thousands of patients worldwide.

“AI is revolutionizing the fight against rare diseases by speeding up diagnosis, research, and development of treatments. Rare diseases often take years to diagnose because of the lack of data, overlapping symptoms, and unclear diagnosis,” Dr. Vinit Banga, Director, Neurology, Fortis Escorts Hospital, Faridabad, told HealthandMe.

“AI algorithms can process medical records, genetic information, and images to identify patterns that may escape human detection, allowing for earlier and more accurate diagnoses,” he added.

AI Simplifying Rare Disease Diagnoses, Drug development

In a February paper published in the journal Nature, researchers from the Shanghai Jiao Tong University in China presented an AI system called DeepRare -- a multi-agent system for rare disease differential diagnosis decision support, powered by large language models, integrating more than 40 specialized tools.

Using the specialized tools and knowledge sources, the agentic AI system generates ranked diagnostic hypotheses for rare diseases. Each of the tools was also accompanied by reasoning that links the conclusions to verifiable medical evidence.

Similarly, Harvard University-based researchers in a paper also published in the Nature journal in 2025 described an AI tool called PopEVE, which can identify genetic variants most likely to cause severe disease or death.

The model was able to identify more than 100 novel alterations responsible for undiagnosed, rare genetic diseases.

"AI is cutting short the diagnostic odyssey from years to weeks. Large-scale genomic projects help create a vital reference architecture for India and the global community,” Dr. Sudheendra Rao N R, MBBS, PhD, Scientific Advisor, Organization for Rare Diseases India, told HealthandMe.

By integrating deep phenotyping with AI, clinicians can decipher unknown genetic variants and accelerate the development of both repurposed and next-generation precision-therapies, the expert added.

AI can also help researchers identify new drug targets for the treatment of rare conditions.

Dr. Banga said that AI is also instrumental in accelerating drug development by processing enormous amounts of biomedical data to discover new targets for drugs and repurpose existing ones. Importantly, AI is cutting down on time and expenses.

“Machine learning algorithms enable the prediction of patient responses to particular treatments, making it possible to develop personalized treatment strategies,” the expert said.

Further, AI-enabled infrastructure is helping to achieve geographic neutrality, delivering the same caliber of healthcare screening to rural villages and Tier-3 cities as to Tier-1 hubs, ensuring a high-quality healthcare gateway that is no longer defined by where the patient lives.

Moreover, AI-based platforms bring together researchers from across the globe, making it easier to share data.

What Is A Rare Disease

The World Health Organization (WHO) defines a rare disease as an often debilitating, chronic, or degenerative condition affecting 1 or fewer per 1,000 population.

Rare diseases do not have epidemiological data, are at high risk of misdiagnosis, and often also lack effective treatments.

According to the WHO ICD-11 (International Classification of Diseases), there are over 5,500 rare diseases. It also assigns unique identifiers (URIs) to them for better tracking.

There are estimated to be over 7,000 distinct rare diseases affecting more than 300 million people globally.

Vitiligo is an autoimmune condition that causes pigment loss in patches of skin. It is highly treatable and does not spread from person to person. However, stress, poor sleep, diet and overall immune health may influence how active the condition becomes, experts said today on World Vitiligo Day.

Awareness around vitiligo remains low and is often clouded by misconceptions. Observed annually on June 25, World Vitiligo Day aims to raise awareness and challenge the stigma associated with the condition.

HealthandMe spoke to experts to understand the disease and the factors that may affect it.

Dr. Rashmi Ranjan, Consultant – Dermatology, Yatharth Super Speciality Hospital, Noida, said the biggest misconception is that vitiligo is contagious.

"It cannot spread from one person to another through touch, sharing food, or close contact."

Dr. Rashmi told HealthandMe that many people also incorrectly believe vitiligo is caused by poor hygiene or specific foods, claims that are not supported by scientific evidence.

What Is Vitiligo?

Vitiligo occurs when the body's immune system attacks melanocytes, the cells responsible for producing skin pigment. While the condition is not life-threatening, it can have a significant emotional and psychological impact.

“As a chronic autoimmune disorder, vitiligo develops when the body's immune system mistakenly attacks melanocytes—the cells responsible for producing skin pigment. The result is the appearance of white patches that can develop anywhere on the body and may gradually increase in size or number over time,” Dr Hetanshu Parekh, Consultant Plastic Reconstructive & Cosmetic Surgeon, Bhailal Amin General Hospital, told HealthandMe.

The Emotional Impact of Vitiligo

The theme of World Vitiligo Day 2026 is "From Stigma to Strength".

According to Dr. Rashmi, visible skin changes often attract unwanted attention, questions and social judgment. Some people may avoid social gatherings or experience challenges in relationships and employment because of persistent misconceptions.

Children may face bullying, while adults can struggle with anxiety and low self-esteem. Emotional support from family, friends and healthcare professionals is therefore crucial.

A recent study also highlighted a strong link between vitiligo and mental health in India. Nearly 89% of patients reported moderate to severe depression, while close to 60% said they covered their patches, underscoring the continuing impact of stigma.

Vitiligo and the Role of Lifestyle Factors

Dr Hetanshu said vitiligo is often viewed as a skin condition alone, but the disease is far more complex. He explained that

Stress

• Stress can disrupt immune balance and increase inflammation, potentially worsening vitiligo.
• New or expanding patches are often observed after major life events such as exams, work pressure, illness, financial difficulties or bereavement.

Sleep

• Quality sleep is essential for immune regulation and overall health.
• Chronic sleep deprivation, irregular sleep schedules or less than six hours of sleep may worsen autoimmune conditions, including vitiligo.

Diet

• There is no specific "vitiligo diet" and no food can cure the condition.
• Deficiencies in Vitamin B12, Vitamin D, folate and copper may affect immune and skin health.
• Experts recommend an anti-inflammatory diet rich in fruits, vegetables, whole grains, nuts, seeds and omega-3 fatty acids.
• Smoking and excessive alcohol consumption should be avoided.

Skin Protection

• Repeated friction, cuts, burns and excessive sun exposure may trigger vitiligo patches (Koebner phenomenon).
• Use sunscreen regularly, wear protective clothing and avoid unnecessary skin trauma from tight straps, jewellery or repetitive rubbing.

Is Vitiligo Treatable?

Advances in targeted topical medications, phototherapy and immune-modulating therapies have expanded treatment options and enabled more personalized care, said Dr. Rashmi told HealthandMe.

Dr Hetanshu stressed that lifestyle measures should complement, not replace, medical treatment. Treatment measures include:

• For small, stable patches, doctors commonly prescribe corticosteroid creams and tacrolimus ointment.
• More extensive or rapidly spreading vitiligo may require narrowband UVB phototherapy, excimer laser therapy, oral corticosteroids or newer JAK inhibitors such as tofacitinib and ritlecitinib.
• Patients with stable disease for six to twelve months may be candidates for surgical procedures such as skin grafting and melanocyte transplantation.
• Medical tattooing and camouflage techniques can help in difficult-to-treat areas.

Blood cancers are among the most challenging, but advances in treatments, such as targeted therapies, advanced transplantation techniques, and increasingly customized approaches, are offering a new ray of hope for patients. Among these innovations, Chimeric Antigen Receptor T-cell therapy, commonly known as CAR-T cell therapy, represents one of the most important breakthroughs in modern cancer care in recent times.

Unlike conventional treatments that directly target cancer cells, CAR-T cell therapy harnesses the patient's immune system to identify and attack cancer. It is a powerful example of how medicine is moving towards personalized treatment strategies that are designed around an individual's disease biology.

How CAR-T Cell Therapy Works

To understand CAR-T therapy, it is important to understand the role of T-cells. These are specialized immune cells responsible for recognizing and eliminating abnormal cells in the body. In some blood cancers, cancer cells develop mechanisms that allow them to evade immune surveillance. CAR-T therapy addresses this challenge by genetically modifying a patient's T-cells in a laboratory to recognize specific proteins present on cancer cells.

The process begins with the collection of T-cells from the patient's blood through leukapheresis. These cells are then engineered to express specialized receptors, called chimeric antigen receptors (CARs), which enable them to recognize cancer cells more effectively. Once modified and multiplied, the cells are infused back into the patient's bloodstream, where they seek out and destroy cancer cells.

Potential of CAR-T

Currently, CAR-T cell therapy has shown encouraging results in several blood cancers, including certain forms of acute lymphoblastic leukemia, diffuse large B-cell lymphoma (DLBCL), mantle cell lymphoma, follicular lymphoma, and multiple myeloma. For some patients whose disease has relapsed after multiple lines of treatment or failed to respond to conventional therapies, CAR-T therapy has offered a valuable new treatment option.

One of the most promising aspects of CAR-T therapy is its potential for durable responses. In selected patients, the engineered immune cells can continue to remain active within the body, providing ongoing surveillance against cancer recurrence. While every patient may not experience the same outcome, the ability to achieve long-lasting remission in heavily pre-treated cancers has generated significant optimism within the oncology community.

CAR-T therapy: The Challenges And Side Effects

All that being said, CAR-T therapy is a highly specialized treatment that requires careful patient selection and close monitoring. Some patients may also experience side effects such as cytokine release syndrome (CRS), neurological complications, or temporary suppression of normal blood cell production. Fortunately, advances in supportive care and growing clinical experience have substantially improved the management of these complications.

The Future of Blood Cancer Care

Researchers across the world are working on next-generation CAR-T platforms designed to improve effectiveness, reduce toxicity and expand treatment eligibility. Investigational approaches include "off-the-shelf" CAR-T products derived from healthy donors, dual-target CAR-T cells capable of recognizing multiple cancer markers, and therapies aimed at overcoming treatment resistance.

Scientists have also been exploring the potential of CAR-T therapy in other blood cancers and even selected solid tumors. While significant challenges remain, ongoing research continues to push the boundaries of what immune-based therapies can achieve. As research advances and access continues to improve, CAR-T cell therapy is expected to play a very important role in the future of blood cancer care. For patients, families, and clinicians alike, it represents a powerful reminder that innovation continues to redefine what is possible in the fight against cancer.

(By Dr. Dinesh Bhurani, Director – Hemato-Oncology & Bone Marrow Transplant, Rajiv Gandhi Cancer Institute & Research Centre (RGCIRC))

Keeping your cholesterol levels in a healthy range is one of the best things you can do for your heart. High cholesterol is a major risk factor for heart disease, but the good news is that what you eat can make a significant difference. While some people may need medication, research shows that certain foods can naturally help lower LDL cholesterol and support overall cardiovascular health.

One of the easiest places to start is with oats. Oats are packed with a soluble fiber called beta-glucan, which helps reduce the amount of cholesterol absorbed into your bloodstream. A review published in Nutrients found that regularly eating oat beta-glucan can lead to meaningful reductions in LDL cholesterol, especially when combined with an overall heart-healthy diet.

Legumes such as beans, lentils, and chickpeas are another powerful addition to your plate. They're rich in fiber and plant-based protein, making them an excellent alternative to processed meats and other foods high in saturated fat. Research has consistently linked regular legume consumption with lower LDL cholesterol levels and better heart health.

Nuts also deserve a place in a cholesterol-friendly diet. Almonds, walnuts, and other tree nuts provide healthy unsaturated fats, fiber, and antioxidants. According to studies published in the American Journal of Clinical Nutrition, moderate nut consumption can help improve cholesterol levels and support cardiovascular health.

Fatty fish like salmon, sardines, and mackerel are well known for their heart-protective benefits. These fish are rich in omega-3 fatty acids, which can help lower triglycerides and support healthy blood vessels. The American Heart Association recommends eating fatty fish at least twice a week as part of a balanced diet.

Fruits and vegetables remain some of the most important foods for maintaining healthy cholesterol levels. Apples, berries, oranges, leafy greens, and broccoli provide fiber, vitamins, antioxidants, and plant compounds that help protect the heart. Numerous studies have shown that diets rich in fruits and vegetables are associated with a lower risk of cardiovascular disease.

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Avocados are another heart-smart choice. They contain monounsaturated fats and fiber, both of which can help improve cholesterol levels when used in place of foods high in saturated fat. A clinical study published in the Journal of the American Heart Association found that people who ate one avocado daily experienced greater reductions in LDL cholesterol than those following similar diets without avocado.

The bottom line is that controlling cholesterol doesn't require a drastic diet overhaul. Small, consistent changes—such as eating more whole grains, legumes, nuts, fruits, vegetables, fatty fish, and healthy fats—can have a lasting impact on heart health. Combined with regular exercise and other healthy lifestyle habits, these foods can help keep your cholesterol in check and support long-term well-being.