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2 articles for “rare (orphan) diseases”
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Horizon Scanning and Early Assessment of Health Technologies for the Treatment of Orphan Diseases
Abstract: The theoretical foundations and regulatory framework of the processes of the formation of an effective health technology assessment (HTA) system at the early stages of the life cycle of medicines are analyzed in the article. Particular attention is paid to horizon scanning (HS) and early assessment of expensive innovative drugs utilized for treating rare diseases. In order to inform policymakers, purchasers, and providers (to prioritize MT research, financial, and operational …
Published in International Journal of Brain Sciences · Vol. 1, Issue 1, 2024 · pp. 32–39 Read article
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Transforming Rare Disease Diagnosis with AI
Abstract: Artificial intelligence is changing healthcare fast. It is making diagnoses accurate, helping doctors get better results, and streamlining how care works. This paper looks at how AI shows up in healthcare right now – where it is already making a difference, what is working, and what is still tricky. The focus is on machine learning, natural language processing, and computer vision. Particular attention is given to using AI in diagnosing …
Published in Research and Reviews : Journal of Computational Biology · Vol. 15, Issue 1, 2026 Read article