Undiagnosed Diseases Network

"UDN Grand Rounds are open to the public. Presentations from UDN sites and cores describe the clinical phenotype and multidisciplinary, personalized diagnostic evaluation of one or more UDN participants. Students, trainees, advocates, and others are welcome to attend, ask questions, and offer insights on cases. CME credits are available at no charge for attendees."

"Undiagnosed diseases are defined as constellations of findings that remain refractory to medical diagnostic approaches. Undiagnosed diseases affect approximately 30 million Americans and include (a) rare diseases that are difficult to identify, (b) atypical presentations of known disorders, and (c) yet to be described diseases ... Undiagnosed diseases typically manifest with objective findings, which are clinically measurable on physical examination or through medical testing and these provide tangible targets for further diagnostic approaches (e.g. dysmorphic facies, abnormal biochemical profiles, physical exam demonstrating weakness or abnormal gait). Approximately 80% of rare and undiagnosed disorders have a genetic basis ..."

"Approximately 25–30 million individuals in the United States are living with a rare disease. ... Many children with rare diseases remain undiagnosed throughout life, leading to excess medical care, expensive diagnostic odysseys, and frustration for patients and their families. ... Advances in genomic technology have allowed for more comprehensive genetic analyses of patients with rare diseases. In an effort to better characterize patients with rare and undiagnosed diseases, the National Institutes of Health launched a single-site project, the Undiagnosed Diseases Program, to improve our understanding of the etiology of these disorders. Following initial success, the program expanded to encompass additional clinical and research institutions, thus establishing the Undiagnosed Diseases Network. ... The UDN is a network of investigators across 13 institutions designated to serve public need by bringing expertise in clinical diagnostics, translational research, and multi-omics technologies to solve medical mysteries ..."

"Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure that spans geography, institutional boundaries, and the divide between clinical care and research. The National Institutes of Health (NIH) Common Fund supports the Undiagnosed Diseases Network (UDN) as an exemplar of this model of precise diagnosis. Its goals are to forge a strategy to accelerate the diagnosis of rare or previously unrecognized diseases, to improve recommendations for clinical management, and to advance research, especially into disease mechanisms. The network will achieve these objectives by evaluating patients with undiagnosed diseases, fostering a breadth of expert collaborations, determining best practices for translating the strategy into medical centers nationwide, and sharing findings, data, specimens, and approaches with the scientific and medical communities. Building the UDN has already brought insights to human and medical geneticists."