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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

The New England Journal of Medicine, Oct 2018

"Many patients remain without a diagnosis despite extensive medical evaluation."

The NIH Undiagnosed Diseases Network expands

Ernesto del Aguila, NHGRI


Five new clinical sites, a new metabolomics core, and increased model organism capabilities among additions.

Stanford Medicine: Diagnosing the Undiagnosed

By Stanford Department of Medicine

"What is it like to have a child, or to be a patient, with a disease that modern medicine is unable to diagnose, and thus unable to cure, or to treat effectively, or to prevent?"

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