Notice of Intent to Publish a Funding Opportunity Announcement for Diagnostic Centers of Excellence (X01 Clinical Trial Not Allowed)
Notice Number:

Key Dates

Release Date:
February 10, 2022
Estimated Publication Date of Funding Opportunity Announcement:
March 30, 2023
First Estimated Application Due Date:
April 04, 2023
Earliest Estimated Award Date:
August 01, 2023
Earliest Estimated Start Date:
September 01, 2023
Related Announcements

NOT-NS-22-071 - Notice of Intent to Publish a Funding Opportunity Announcement for a Data Management and Coordinating Center for Diagnostic Centers of Excellence (U2C Clinical Trial Not Allowed)

Issued by

National Institute of Neurological Disorders and Stroke (NINDS)

National Eye Institute (NEI)

National Human Genome Research Institute (NHGRI)

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

National Institute of Dental and Craniofacial Research (NIDCR)

National Center for Advancing Translational Sciences (NCATS)


Established by the National Institutes of Health (NIH) Common Fund in 2013, the Undiagnosed Diseases Network (UDN) is a network of NIH intramural and extramural researchers and clinicians whose primary goals are to use team science to improve the diagnostic journey for patients with undiagnosed diseases and to catalyze research into unknown disease mechanisms. The UDN also aims to promote the use of genomics data in disease diagnosis and to share data and approaches widely throughout the scientific community. This highly successful Common Fund program will end in July 2023.

To have a broader impact on the clinical practice of undiagnosed diseases in the US, the NIH envisions the UDN evolving into a larger, self-sustained network that, with public and private partners, can provide expert diagnostic services for diverse populations across the nation and foster scientific discovery. To assist in the transition towards sustainability, the NIH intends to fund a Data Management and Coordinating Center (DMCC) to provide coordination, infrastructure, data management, and clinical research support to clinical sites with expertise in diagnosing challenging and difficult-to-diagnose diseases (see related Notice NOT-NS-22-071). A Funding Opportunity Announcement (FOA) to solicit applications for the DMCC is expected to be published in spring of 2022.

This Notice informs the research community that NIH intends to publish a program announcement that solicits proposals from highly qualified clinical sites in the US to join the new network through an X01 Resource Access Program award. Successful applicants will demonstrate that they have the appropriate infrastructure, expertise, and resources needed to conduct the clinical evaluation and DNA sequencing of participants enrolled at their sites (described in more detail below). Accepted sites will be designated as a “Diagnostic Center of Excellence (DCoE)” and have access to DMCC resources and infrastructure including access to high-quality phenotypic and genotypic data and collaboration with highly skilled physicians, researchers, and bioinformaticians. DCoEs will be invited to submit their most challenging, unsolved cases for acceptance into the network, and partner in their evaluation with the network’s virtual case review committee(s), which will be coordinated by the DMCC. To qualify as a DCoE, each site will be expected to enroll a minimum of 5 participants per year, although some sites may have the capacity to enroll more participants. Unlike current UDN operations (see: UDN Manual of Operations), a DCoE may choose to specialize in an area of clinical practice (e.g., pediatrics, neurology, cardiovascular, immunologic, environmental insults, etc.). Although DCoEs will not receive direct NIH funds through the X01 mechanism, participating sites will have the opportunity to apply for small amounts of funds each year administered by the DMCC to support site coordination associated with data sharing and small, exploratory research projects needed to facilitate a participant’s diagnosis (e.g., gene function studies in model organisms and non-routine clinical genomics or metabolomics investigations in the range of $25-50K Direct Costs per project). The maximum period of performance will be 5 years.

This program announcement is expected to be published in spring of 2023 with an expected application due date in early summer of 2023. This Notice is being published now, in advance of the program announcement, so that potential applicants have sufficient time to develop meaningful collaborations and responsive projects. Details of the planned program announcement are provided below.

Research Initiative Details

This Notice encourages clinical sites with the resources, infrastructure, and expertise to perform the activities listed below to consider joining the new network (and receiving the title “Diagnostic Center of Excellence”) by applying to the X01 program announcement. Potential applicants are also encouraged to partner with medical institutions that serve underserved and socioeconomically diverse populations. Successful applicants will demonstrate the ability to comprehensively phenotype undiagnosed participants and share associated phenotypic and genomics data with the network, including:

  1. Ability to perform comprehensive clinical evaluations including medical record review, testing, procedures, consultations, and referral to other sites with necessary expertise if appropriate.
  2. Genomics capability including medical genetics and associated informatics expertise to identify pathogenic variants from human genomics sequence data. Ability to perform DNA sequencing, re-analysis of existing genome-sequencing data, work with network data stored in a cloud architecture, and collaboration and information sharing with other clinical sites in the network.
  3. Ability to collect and store DNA, fibroblasts from skin biopsies, and other biological specimens produced by clinical evaluations for an extended amount of time. Sufficient clinical metabolomics and other omics expertise to interpret or re-interpret lab findings.
  4. Ability to establish and staff a site coordination position, which will serve as a point of contact for data sharing, case coordination, collaboration, data retrieval for academic projects and patient follow-up.
  5.  Infrastructure to return genetic results to study participants and provide post-test genetic counseling.
  6. Ability to consent participants and use a single IRB to ethically review network-wide protocols involving human subjects research
  7. Ability to secure sufficient professional time for clinical staff to review medical records from applicants (so as to enroll a minimum of five cases per year into the network) and to rigorously discuss the results to arrive at a diagnosis or to interrogate candidate genes.
  8. Sufficient informatics infrastructure to organize incoming records and generated results for study participants.
Funding Information


Estimated Total Funding

Funds will not be provided.

Expected Number of Awards

At least 10-15, depending on the number of qualified applications.

Estimated Award Ceiling

Funds will not be provided.

Primary Assistance Listing Number(s)


Anticipated Eligible Organizations
Public/State Controlled Institution of Higher Education
Nonprofit with 501(c)(3) IRS Status (Other than Institution of Higher Education)
Small Business
For-Profit Organization (Other than Small Business)
State Government
Indian/Native American Tribal Government (Federally Recognized)
County governments
Indian/Native American Tribally Designated Organization (Native American tribal organizations (other than Federally recognized tribal governments)
U.S. Territory or Possession
Indian/Native American Tribal Government (Other than Federally Recognized)
Eligible Agencies of the Federal Government

Applications are not being solicited at this time. 


Please direct all inquiries to:

Argenia Doss, PhD

National Institute of Neurological Disorders and Stroke (NINDS)