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AI precision medicine accelerates the search for rare disease treatment

Posted on September 20th, 2021 by in AI & Data

AI and precision medicine are both changing drug discovery and development as we know it. Precision medicine that is powered by AI stands to be transformative, especially for the treatment of rare diseases. Elsevier was recently part of a collaboration that sought to demonstrate how AI precision medicine could lead researchers to new treatments for brain tumors faster.

Here is an overview of this exciting project:

THE PLAYERS: Elsevier and the Sinergia Consortium (DMG/DIPG Center at University Children’s Hospital Zurich; ETH Zurich; the Centre for Molecular Medicine Norway), and the Open Pediatric Brain Tumor Atlas project

THE DISEASE TARGET: Diffuse intrinsic pontine glioma (DIPG), a very aggressive type of brain tumor that targets children and currently has no effective treatment

THE PROJECT: Develop an AI disease model that will assist with drug repurposing and support precision medicine

THE PROCESS: It started with analyzing OMICs data for DIPG patients using Elsevier’s Biology Knowledge Graph and complementary software in order to develop a molecular disease model. The model was then further built and improved with more data (extracted through AI, natural language processing and text mining technologies) along the way.

THE RESULTS: The model was used to identify approved drugs that inhibit the disease mechanism, which brought the list of potential drugs down to 212. Further ranking scores were developed to get to the 10 drugs with the most potential for experimental validation.

What did it prove?

This project showed how AI, NLP and text mining can effectively improve our understanding of rare diseases to find the drug candidates with the most potential, which can help researchers focus their efforts on the best leads in the search of treatments for DIPG and other rare diseases.  

To go further in-depth and learn more about how the team developed the disease model, read this Pharmafield article by Dr. Anton Yuryev, Professional Services Director at Elsevier.

You can also learn more by watching this recent webinar that Dr. Yuryev presented on AI disease modeling.

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