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Powered by EHTEL member, Kelyon

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

AI4NEF is an example of an application of advanced technology to address a rare genetic disorder, neurofibromatosis type 1 (NF1) which can be inherited or develop spontaneously. The high variability and complex progression of NF1 symptoms require a multidisciplinary and holistic approach, making research on this disorder particularly challenging.

What is NF1? NF1 can affect many organs and systems, but primarily a patient’s skin, peripheral nervous system, and eyes. Its symptoms vary from mild to severe. The condition exposes a patient to an increased risk of developing tumours, both benign and malignant.

The AI4NEF project aimed to create an innovative solution for collecting, managing, and conducting the advanced analysis of clinical and genetic data from NF1 patients.

AI4NEF is a platform that serves as both a disease registry and an AI-based Clinical Decision Support System for researchers and clinicians. The project’s focus was on translational medicine, aiming to bridge the gap between basic scientific research and its practical application at the bedside and in the community. Thanks to AI and innovative technological solutions, Kelyon, a digital health company, has facilitated the exchange of information between laboratory research and clinical practice, and vice versa. This approach promotes the implementation of evidence-based medicine, enhancing the integration of scientific knowledge into practical healthcare settings. Kelyon, an EHTEL member, was the AI4NEF project’s lead partner.

"AI4NEF demonstrates Kelyon's commitment to finding innovative solutions that apply to translational medicine and have a positive impact on patients’ quality of life," stated Gaetano Cafiero, Chief Executive Officer of Kelyon.

Now the project has been completed, the next step involves the inclusion of additional NF1 Reference Centres. The aim is twofold:

  • to expand the available database to strengthen the performance of the trained models.
  • to make the registry usable by other clinicians and researchers in order to maximise the exchange and availability of information and ensure optimal care for patients with NF1.


What’s in AI4NEF for EHTEL members?

AI4NEF can help EHTEL members because is a concrete example of how AI can be used to improve the treatment of rare diseases. Its success could have a significant positive impact on patients’ lives, offering them better disease management and access to more targeted and personalised treatment.

For more about the AI4NEF project.

For more about Kelyon and its work here and here.

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