Artificial Intelligence in the Detection of Rare Diseases

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Diagnosing rare diseases is considered one of the most complex challenges in the medical field, due to their low prevalence, the similarity of their symptoms to more common diseases, and the limited clinical expertise available for many of these conditions. With the rapid advancement of artificial intelligence (AI) technologies, it has become possible to employ these modern tools to support physicians and improve the accuracy and speed of diagnosing rare diseases, thereby contributing to saving lives and enhancing the quality of healthcare. How Can Artificial Intelligence Help Physicians Diagnose Rare Diseases? Artificial intelligence assists physicians by enabling the rapid and accurate analysis of vast amounts of medical data, surpassing traditional human capabilities. Intelligent systems can process clinical data, laboratory test results, medical imaging, and genetic reports, and correlate them with global databases containing information on thousands of rare disease cases. In addition, machine learning techniques provide physicians with diagnostic suggestions based on precise statistical patterns, reducing the likelihood of misdiagnosis and shortening the time required to reach an accurate diagnosis using conventional methods. Thus, artificial intelligence serves as a supportive tool for physicians rather than a replacement, enhancing their ability to make well-informed medical decisions. The Role of Algorithms in Analyzing Symptoms and Patients’ Medical History Intelligent algorithms play a central role in analyzing clinical symptoms and patients’ medical histories by comparing the entered symptoms with millions of similar cases stored in medical databases. These algorithms are capable of identifying hidden relationships between symptoms that may not be apparent to physicians, particularly in rare diseases characterized by diverse and complex clinical presentations. Furthermore, artificial intelligence can analyze a patient’s complete medical record, including family history, genetic factors, and responses to previous treatments. This comprehensive analysis helps narrow down diagnostic possibilities and guides physicians toward more accurate diagnoses and more effective treatment plans, especially in complex or unclear cases. Conclusion Artificial intelligence represents a significant advancement in the field of rare disease diagnosis, as it improves diagnostic accuracy, accelerates disease detection, and supports physicians in making data-driven medical decisions. With the continued development of these technologies, AI is expected to become a fundamental component of modern healthcare systems, contributing to more equitable and efficient care for patients with rare diseases. Al-Mustaqbal University is the first university in Iraq.