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Artificial intelligence for neurofibromatosis type 1: the AI4NEF project

Artificial intelligence (AI) is proving to be an increasingly valuable tool for medicine, also in the field of rare diseases.

An example of this potential is the AI4NEF project, co-funded by the European Union and the Campania Region within the framework of the POR Campania FESR 2014-2020, and implemented by Kelyon (Lead Partner) together with the Distretto Tecnologico Campania Bioscience Scarl (, thanks to the synergy with researchers from the Medical Genetics Laboratory of the ‘Luigi Vanvitelli’ University of Campania ( and the Neurofibromatosis Reference Centre of the ‘Luigi Vanvitelli’ University Hospital (

The project, which was completed in July 2023, aimed to create an innovative solution for collecting, managing, and conducting advanced analysis of clinical and genetic data from patients afflicted by neurofibromatosis type 1 (NF1). AI4NEF is a platform that serves as both a disease registry and an AI-based Clinical Decision Support System (CDSS) for NF1 patients. It enables patient stratification based on their risk of developing and progressing specific clinical manifestations, especially those that can be pharmacologically treated.

“AI4NEF demonstrates Kelyon’s commitment to finding innovative solutions that apply to translational medicine and have a positive impact on patients’ quality of life,” said Stefano Tagliaferri, R&D Manager of Kelyon.

AI4NEF offers several potential benefits for NF1 patients, including:

  • Better disease management: the CDSS will provide physicians with a more comprehensive and updated view of patient’s health status, facilitating diagnosis and treatment planning.
  • Improved personalisation of care: the CDSS will allow patient stratification according to risk and disease evolution, enabling more targeted and personalised care.
  • Scientific research: researchers will use the database of clinical and genetic data collected by AI4NEF to identify new prognostic biomarkers and develop new therapies.

“The AI4NEF project is a concrete example of how AI can be used to improve the treatment of rare diseases – stated Gaetano Cafiero, Chief Executive Officer of Kelyon – its success could have a significant impact on patients’ lives, offering them better disease management and access to more targeted and personalised treatment.”

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