The Undiagnosed Disease Network

The NIH Undiagnosed Diseases Network (UDN) is a research study to improve the level of diagnosis of rare and undiagnosed conditions. In the United States, it has been estimated that approximately 25 million Americans suffer from a rare disorder. The UDN established a nationwide network of clinicians and researchers who use both basic and clinical research to uncover the underlying disease mechanisms associated with these conditions. Since its launch, the UDN has provided over 900 diagnoses and that number continues to grow. The network has discovered hundreds of novel disease-associated genes and genomic variants, including new diseases and syndromes; and built an international reputation for establishing exemplary clinical practices, standards, and pipelines for genomics-based diagnoses.