Center for Undiagnosed Diseases at Stanford

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ABSTRACT The Undiagnosed Diseases Network (UDN) has facilitated access for patients with undiagnosed diseases to the nation's leading clinicians and scientists. The UDN has brought cutting edge tools for disease discovery and diagnosis to thousands of individuals across the country. UDN has made substantial efforts to improve sustainability through the expansion of clinical sites, refinement of methods, and integration with existing practices. Stanford Medicine has a strong commitment to the continuation of the Center for Undiagnosed Diseases at Stanford, and has successfully applied lessons learned through research activities to improve the care for all patients with undiagnosed diseases. We propose a program of study that will continue to facilitate timely, accurate diagnosis of patients with undiagnosed diseases; advance research into underlying mechanisms of disease; and foster cooperation and collaboration within the UDN and encourage engagement of non-UDN clinicians, scientists, policy-makers, and funders to ensure this national resource is sustained long beyond the duration of this proposal. Through experience at the Stanford Clinical Site we have identified specific interventions that are expected to be helpful in enabling individuals of historically underserved backgrounds to participate in and benefit from the Network. Through this supplement we will deploy and evaluate new strategies for remote consent and sample collection. We will additionally adopt methods to accelerate the review of digital medical records through the use of natural language processing tools.