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.
She wakes before dawn, packs lunches, manages households, holds careers together, and still finds time to ask everyone else, “Are you okay?” The Indian woman is, in every sense, the backbone of her family. And yet, in giving so much of herself to others, she often becomes the last person she takes care of.
This International Women’s Day, that needs to change.
Cancer remains one of the gravest health threats facing Indian women today.
Breast cancer has become the most frequently diagnosed cancer among Indian women — and unlike in Western countries, it is striking women in their 30s and 40s, at the very peak of their lives.
Cervical cancer, though almost entirely preventable, continues to claim thousands of lives every year — not because medicine has failed, but because awareness has.
Ovarian cancer, often called the “silent killer,” is frequently caught only at advanced stages, making early vigilance all the more critical.
Thyroid cancer is emerging as a cancer that disproportionately affects women — occurring nearly three times more often in women than men. The good news is that it is also one of the most treatable cancers when detected early.
Women who notice a lump or swelling in the neck, unexplained hoarseness, or difficulty swallowing should not dismiss these signs.
A simple ultrasound and blood test can go a long way in ruling out — or catching — a problem early. The truth, however, is not bleak — it is urgent.
Early Detection Saves Lives
Most cancers, when found at an early stage, are highly treatable. Women above 40 should schedule regular clinical breast examinations and mammography.
Cervical cancer screening through a Pap smear or HPV test, starting as early as age 25–30, can detect precancerous changes before they ever become cancer. These tests are quick, safe, and available — what they need most is for women to simply show up.
Prevention, too, begins with everyday choices. Avoiding tobacco in all its forms — cigarettes, gutka, paan — is the single most powerful step. Regular physical activity, a diet rich in fruits and vegetables, maintaining a healthy weight, limiting alcohol, and getting the “HPV vaccine” (ideally between ages 9 and 14) can dramatically reduce cancer risk.
And perhaps just as importantly: listen to your body. An unusual lump, unexplained bleeding, or a symptom that won’t go away is not something to push aside for later. Later can cost everything.
A healthy woman builds a healthy family — and a healthy nation. This Women’s Day, let’s give every woman around us the most meaningful gift possible: the reminder that her health is not selfish, it is essential.
Link for original article : https://www.healthandme.com/health-wellness/rare-diseases-day-how-ai-is-transforming-early-diagnosis-article-153719453/amp
