NORD teams with AI company to create rare disease resources
Partners plan library of more than 3,000 disease summaries
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The National Organization for Rare Disorders (NORD) is teaming up with artificial intelligence (AI) company Openevidence to combine artificial intelligence (AI) with expert review to create new educational resources on thousands of rare diseases.
“People living with rare diseases and the families who support them deserve access to information they can trust, and clinicians need reliable resources they can use in real time,” Pamela Gavin, CEO of NORD, said in an organization press release. “Our partnership with OpenEvidence will help bring more expert-reviewed rare disease information into the world in formats designed for both clinical care and patient understanding. It is an important step toward connecting emerging knowledge with informed care and empowered patients.”
Project addresses lack of accessible resources
For people affected by rare diseases like AADC deficiency, finding accurate information about the disorder can be challenging. Since these diseases are by definition rare, there generally aren’t a lot of educational resources devoted to them — and those that are available are often scientific journal articles, which can be hard to decipher for someone without a background in medical terminology.
That’s where this new project comes in. NORD and Openevidence plan to use AI to comb through the available medical literature and create summary descriptions of more than 3,000 rare diseases. The project aims to produce both plain-language summaries tailored for the general public and more technical summaries for medical professionals. The AI-generated content will be reviewed by experts recommended by NORD to ensure accuracy.
“Rare disease is exactly the kind of problem AI should be helping to solve: a vast, fragmented literature that no single clinician can master on their own,” said Travis Zack, MD, PhD, chief medical officer of Openevidence. “By combining the scale and synthesis capabilities of AI with review from NORD experts, we can build resources that are comprehensive, current, and trustworthy, for both the clinicians and the patients they serve.”
The clinician-focused summaries will be made available on Openevidence’s platform, while NORD will distribute lay-friendly summaries geared toward patients and families through its online rare disease database.
