The Undiagnosed Disease Network

Objective

The Undiagnosed Diseases Network (UDN) is a research program supported by NIH that combines basic and clinical research services to understand health conditions for individuals and their families who have sought a clinical diagnosis without success. Launched by the NIH Common Fund in 2013, the UDN has built an international reputation for advancing disease research while establishing exemplary clinical practices for undiagnosed diseases. Between 2013 and 2023, the UDN facilitated difficult diagnoses for almost 900 people – providing answers to patients who have long searched for the cause of their symptoms (https://undiagnosed.hms.harvard.edu/). Through team science and collaboration, UDN investigators have discovered hundreds of novel disease-associated genes and genomic variants, including the identification of new diseases and syndromes. NHGRI and CC established the intramural Undiagnosed Diseases Program (UDP) in 2008 to make progress in uncovering, understanding, and treating rare disorders. Based on the success of the UDP, the NIH Common Fund established the UDN in FY 2013 (Phase I) to achieve this type of cross-disciplinary approach to disease diagnosis in academic medical centers around the United States. The NIH Common Fund expanded the network in 2018 (Phase II) to increase the availability of diagnostic services, foster opportunities for collaboration between laboratory and clinical investigators, provide resulting data and protocols to the broader community, and assess development of a sustainable national resource after Common Fund support ends. In 2023, the UDN transitioned from the Common Fund to an NIH-wide initiative, with support from 17 NIH Institutes and Centers (Phase III) under the leadership of NINDS. The current network consists of a Data Management and Coordinating Center (DMCC), which provides infrastructure and research support for 23 clinical sites. The DMCC also supports Research Cores for services such as genomic sequencing, functional studies in model organisms, and consultation for metabolomic and proteomic analysis, based on the needs of cases being assessed by the network. The NIH envisions the UDN evolving into a larger and self-sustained network that fosters scientific discovery and provides expert diagnostic services for undiagnosed patients across the nation. Priorities for the UDN in Phase III are to: 1) Scale clinical capacity to engage more patients by increasing the efficiency and cost-effectiveness of the diagnostic evaluation; 2) Expand access to the UDN for individuals and groups that do not typically have access to or participate in NIH clinical research; 3) Continue to incorporate input from patients, caregivers, and family members into the practice of the UDN; 4) Continue fruitful genetic investigations, and expand to other potential causal factors such as environmental insults, infectious, oncologic, immunologic, or complex multi-organ disorders; 5) Continue to develop health economics approaches to support the sustainability of the UDN approach to investigate persons with undiagnosed medical conditions; and 6) Incorporate implementation science methods to facilitate the translation of lessons learned through the UDN into mainstream medical care.

Who Can Apply

• Local
• State
• Territorial
• Tribal
• Foreign Government
• Foreign Non-Government Nonprofit Organization
• Foreign Non-Government Not-for-Profit Organization
• Foreign Non-Governmental For-Profit Organization
• Nonprofit Organization
• Not-for-Profit Organization
• For-Profit Organization

State, Local, Tribal, Territorial, For-Profit Organization, Nonprofit Organization, International Organization, Foreign Non-Governmental For-Profit Organization, Foreign Government, Foreign Non-Government Nonprofit Organization, Foreign Non-Government Not-for-Profit Organization, Federally Recognized Indian/Native American/Alaska Native Tribal Government, Interstate Organization

Assistance Types

• Cooperative Agreement

Program Contact

UDNProgramStaff@ninds.nih.gov
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