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Multidisciplinary Machine-Assisted, Genomic Analysis and Clinical Approaches to Shortening the Rare Diseases Diagnostic Odyssey

We want to find innovative ways to shorten the timeline for getting a correct diagnosis, especially for people with a rare disease.

The Need for New Approaches to Diagnose Rare Diseases More Quickly

For people with rare diseases, getting a correct diagnosis can take years and many visits to different doctors. During this “diagnostic odyssey,” people with rare diseases might have unnecessary tests and procedures, receive the wrong diagnosis, and experience delays in getting effective care. This long timeline means that many people with rare diseases experience irreversible damage as the disease progresses. Some may miss when interventions could be the most helpful.

About the Research

We have awarded funding to support three research projects that will study new tools and approaches to make it easier to correctly diagnose people with rare diseases. Each of the three projects is exploring a different approach to speed up the timeline for a correct diagnosis. These approaches include machine learning, genetic analyses and medical evaluation. To be successful, the approaches must be easy to apply and used early in patient care by front-line health care providers.

Funding for the awards comes in two phases. Research teams must meet goals in the first phase before they move on to the next. In the first phase, researchers must create a strategy for using their proposed approach to make faster diagnoses and test that strategy in a real-world setting. In the second phase, researchers will test their strategy with patients in a different health care setting that presents new challenges or obstacles.

Find past and current awards for this initiative via the NIH Research Portfolio Online Reporting Tools Expenditures and Results (RePORTER).

Last updated on April 20, 2024