Optimization of Orphan Disease Diagnosis with AI

Dr. Gustavo Aroca At the Clinic: Scientific Director and Chief of Nephrology, Principal Investigator at Minciencias. At Simón Bolívar University: Director of the Nephrology Postgraduate Program and Leader of the Nephrology Research Group, Minciencias Category A1.

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Currently, in the Caribbean region of Colombia, we face many difficulties in diagnosing orphan diseases. Often, there are long diagnostic processes due to the complexity, lack of awareness, socioeconomic barriers such as poverty, and geographical accessibility issues. Artificial intelligence allows us to optimize diagnostic processes by analyzing large databases with many variables, enabling us to study volumes of clinical histories. This provides crucial support for medical and scientific personnel. Therefore, AI has drastically optimized the diagnosis of orphan diseases, making the process more effective, agile, precise, and accessible for patients.

Although AI is a relatively new technology, its acceptance by the medical and scientific community has been exponential with the current predictive machine learning algorithms. In our case, with the mentioned study, we have managed to process and analyze large amounts of data from patients and respective orphan diseases, identifying characteristic patterns. This has optimized diagnosis and language processing.

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