Undiagnosed Diseases Network (UDN)

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Program Snapshot

The Undiagnosed Diseases Network (UDN) has transitioned from Common Fund leadership. The UDN is now led by The National Institute of Neurological Disorders and Stroke (NINDS). For additional information about the next phase of the UDN, please visit the program’s page on NINDS’ website.

Common Fund makes strategic investments to achieve a set of high-impact goals within a 5-10 year timeframe. At the conclusion of the investment, deliverables may transition to other sources of support or use within the scientific community as UDN has transferred to NINDS. This website is being maintained as an archive and will not be updated on a regular basis.

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 600 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.

The National Institutes of Health (NIH) established an intramural research program on undiagnosed diseases in 2008, known now as the Undiagnosed Diseases Program (UDP), to make progress in uncovering, understanding, and treating rare disorders. Building on the success of this program in diagnosing both known and new diseases, the Common Fund’s Undiagnosed Diseases Network (UDN) aimed to achieve this type of cross-disciplinary approach to disease diagnosis in academic medical centers around the United States. The NIH Common Fund’s Undiagnosed Diseases Network promoted the use of genomic data in disease diagnosis and engaging basic researchers to uncover the underlying disease mechanisms so that treatments may be identified. The program also trained clinicians in the use of contemporary genomic approaches to aid in disease diagnosis. The network also benefited from having the capacity to share data and approaches widely throughout the scientific community. The UDN was launched in 2013 and expanded in 2018. It contained the following components.

Twelve Clinical Sites (including the NIH UDP)
Coordinating Center
Sequencing Core
Two Model Organisms Screening Centers
Metabolomics Core
Central Biorepository

The goal of the Common Fund Program was to form a sustainable national resource to diagnose both rare and new diseases, advance laboratory and clinical research, enhance global coordination and collaboration among laboratory and clinical researchers, and share resulting data and approaches throughout the scientific and clinical communities.

Who is in the Network?

The UDN is a group of clinical and research centers across the United States. More information about the centers that make up the UDN can be found here.

Future plans to support the Undiagnosed Diseases Network

Common Fund programs are established with defined goals and a ten year limit to achieve them. The Common Fund goal for the UDN was to establish and test a new model of collaboration across clinical sites to extend the NIH intramural Undiagnosed Diseases Program to extramural centers.

In FY2022, NIH provided supplements and extensions to the existing UDN extramural clinical sites, Coordinating Center, and some Cores to ensure that all participants accepted by the end of the ninth year are evaluated as the program transitions to a larger, self-sustained network. The UDN will transition from Common Fund support in July 2023. The National Institute of Neurological Disorders and Stroke (NINDS) will assume a leadership role in managing the Network with help from 14 different NIH Institutes and Centers along with the NIH Office of the Director. The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and currently supported as a UDN clinical site, will continue to receive support and oversight from multiple NIH Institutes and Centers.

In FY2023, NIH awarded an additional year of funding to existing UDN clinical sites through a limited competition to continue their participation in the UDN, enroll and evaluate new participants, further develop their sustainability plans, and establish collaborations and efficient processes with the next phase Data Management and Coordinating Center (DMCC). NIH awarded the new DMCC, which will provide infrastructure and research support for a new network of clinical sites. To expand geographic coverage and reach underserved and underinsured populations in the next phase, the NIH published a NOFO to allow new clinical sites with the appropriate infrastructure, expertise, and resources needed to conduct the clinical evaluation and DNA sequencing of participants to apply for designation as a Diagnostic Center of Excellence and have access to resources of the DMCC. Support for UDN components via NIH Institutes and Centers ensures a trans-NIH approach to supporting UDN activities beyond the 10 year lifespan of a Common Fund program.

For additional information about the next phase of the UDN, please visit the program’s page on NINDS’ website. To learn more about applying to be a UDN participant, please contact the UDN Coordinating Center.

Announcements

A course for healthcare providers: learn how to evaluate your undiagnosed patients

A message to UDN participants and their families

A personalized approach to clinical care leads to diagnoses

Initial Outcomes from the Undiagnosed Diseases Network Reveal Promising Number of Diagnoses

The NIH Undiagnosed Diseases Network expands

Overactive Protein at the Cell Surface May Cause Neurological Symptoms

Precision Medicine Approach Reveals Targeted Therapy for Neurological Disorder

MARRVEL: A New Tool that Integrates Data from Human Genetics and Model Organism Databases

Special Notice:

Due to the coronavirus disease 2019 (COVID-19) outbreak, upcoming in-person evaluations may be postponed to comply with hospital and university policies. For additional information about COVID-19 and its impact on the UDN, please visit the UDN Coordinating Center website(link is external).

Learn more about applying to be a UDN participant here:

Team Science in the UDN

Watch the video below to hear UDN researchers describe how they use a team science approach that brings together laboratory researchers and clinicians to solve some of the most difficult medical cases.

An audio described version of this video is also available on YouTube.