Artificial intelligence for orphan and rare diseases: a promising frontier in healthcare

Ajay Kumar Shukla*, Vimal Kumar Yadav

Institute of Pharmacy, Dr Rammanohar Lohia Avadh University, Uttar Pradesh, India

Refer this article

Ajay Kumar Shukla, Vimal Kumar Yadav, 2025. Artificial intelligence for orphan and rare diseases: a promising frontier in healthcare. Journal of medical pharmaceutical and allied sciences, V 14 - I 6, Pages - 09 – 15. Doi: https://doi.org/10.55522/jmpas.V14I6.6990.

ABSTRACT

Due to their little knowledge and lack of available data, orphan and uncommon diseases which impact millions of people globally present particular difficulties in diagnosis, treatment, and research. Conventional methods in the medical field frequently fail to effectively handle these problems. But integrating artificial intelligence (AI) has great potential to change the way orphan and rare disease management is done. This study examines the state of the art and future directions for AI applications in the fight against chronic illnesses. Artificial intelligence (AI)-driven techniques, including computer vision, natural language processing, and machine learning, provide innovative solutions for managing rare and orphan diseases at different phases. They include using predictive analytics to detect diseases early, developing individualised treatment plans based on data-driven insights, and using computational techniques to speed up the development and repurposing of drugs. Furthermore, AI facilitates the combination and analysis of data from various sources, including real-world, clinical, imaging, and genomic data, enabling a more comprehensive understanding of these illnesses. Moreover, AI-driven platforms facilitate collaboration among researchers, physicians, patients, and industry participants, creating a mutually beneficial environment for information exchange, data sharing, and collective problem-solving. This paper demonstrates the concrete effects of AI in driving innovation in precision medicine, expediting the identification of uncommon diseases, and improving patient outcomes through case studies and examples. AI adoption in orphan and rare illnesses confronts a number of obstacles despite its enormous promise, including a lack of data, interpretability of algorithms, legal restrictions, and ethical issues. In order to ensure the ethical and fair integration of AI technology in healthcare, addressing these difficulties calls for interdisciplinary cooperation, strong governance structures, and continual stakeholder involvement. In conclusion, the management of orphan and uncommon diseases is being revolutionised by artificial intelligence, which presents hitherto unseen chances to improve diagnosis, therapy, and research results. Through the utilisation of AI-driven advancements, interested parties can work together to surmount the distinct obstacles presented by these illnesses and ultimately enhance the quality of life for millions of people afflicted with uncommon and orphan ailments.

Keywords:

Artificial Intelligence, Orphan and Rare Diseases, disease diagnosis, artificial intelligence tool, impact of health disparities on emigration.

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