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Funding Opportunities

Open Opportunities

Call for Proposals
Gene Function Studies
The Undiagnosed Diseases Network (UDN) will consider proposals for gene function studies to elucidate the biologic mechanisms of genetic variants identified in the UDN. A list of genetic variants for additional study is available here.
Key Information
Call for Proposals posted: September 14, 2020
Letters of Intent due: October 5, 2020
Proposals due: November 13, 2020
Awards announced: March 22, 2021
Earliest start date: July 1, 2021
Project period: July 1, 2021-June 30, 2022
Letter of Intent
Prospective applicants should submit a letter of intent with a brief statement of work (no more than 2-3 paragraphs). The statement of work should include the gene name and variant for the proposed study. The following template may be used for this submission: HMS Statement of Intent. If the applicant’s institution uses its own form, applicants must review to ensure all requested information is provided. These materials must be submitted in PDF format by email to udncc@hms.harvard.edu by 5:00 PM ET on October 5, 2020. The information in the letter of intent allows Coordinating Center staff to estimate the potential review workload, identify potential areas of overlap with ongoing projects, and plan the review. Although letters of intent are requested, applicants will not be filtered out based on letters of intent and do not need to be invited to submit full proposals.
Proposal Requirements
Research Plan

Interested investigators must submit a research plan outlining their specific aims and research strategy. This research strategy should include: (1) Bioinformatics or literature support connecting the specific genetic variant, proposed genetic mechanism, and phenotype; (2) Explanation of the proposed approach (e.g. cell, tissue, organ, model organism, multi-omic investigation) to exploring the genetic variant and how information regarding impact on function and connection with participant phenotype will be determined; and (3) Description of how approach fits with the clinical and mechanistic information available.

In addition, applicants would be supported in proposing in depth biological studies beyond screening (such as studies to complement the work performed by the UDN Model Organisms Screening Centers) that probe into mechanisms of disease, provide insight into therapeutic targets, or provide novel insights into the UDN candidate genes.

Page limit: Research plans should not exceed 5 pages.

File format: PDF

Additional Materials

Although proposals will not be reviewed by an NIH peer review committee, proposals must include information regarding facilities and other resources, equipment (if applicable), and biosketches for senior/key personnel consistent with NIH application guidelines. A budget and justification must also be submitted using the PHS 398 or 424 (R&R) budget form. Applicants must submit a resource and data sharing plan indicating their willingness to share research plans and data with clinicians and investigators in the UDN and participate in network-wide meetings. Details regarding how research protocols, resources, progress, and results will be communicated to the UDN and the research community are required.
UDN grantees and organizations outside of the UDN, including organizations outside of the United States, are welcome to apply and may submit more than one proposal, provided that each proposal is scientifically distinct. Although more than one proposal may be submitted, application balance may be taken into consideration when making awards.
Funds Available
The total amount of funds available for this award is approximately $900,000 for FY21 contingent upon receiving scientifically meritorious applications. Budgets should not exceed $150,000 total costs and must reflect the actual needs of the proposed project. Indirect costs are allowed.
Anticipated Number of Awards
Six awards are anticipated in FY21.
Review and Selection Process
A peer review committee will review all proposals submitted by the deadline. Although the review will not be performed by an NIH peer review committee, the committee will use traditional NIH review criteria (significance, investigator(s), innovation, approach, environment) to provide an overall impact score for each application. Reviewers will also consider long-term significance and novelty of the proposed approach during the review. The UDN Coordinating Center will execute a subcontract with each awardee. Once a subcontract has been executed, de-identified clinical and genomic data will be made available to the awardee.
Submission Instructions
Letters of intent and final proposals must be submitted in PDF format by email to udncc@hms.harvard.edu. Letters of intent are are due by 5:00 PM ET on October 5, 2020. Final proposals are due by 5:00 PM ET on November 13, 2020. Letters of intent and proposals received after these deadlines will not be reviewed.
Contact Information
Applicants are strongly encouraged to contact the UDN Coordinating Center for additional information on variants and any ongoing studies. If you have questions about the proposal requirements, please email udncc@hms.harvard.edu.


Closed Opportunities

Gene Function Studies – September 2019


Gene Function Studies (Project period: July 1, 2019 – June 30, 2020)*
InstitutionPrincipal InvestigatorProject Title
Baylor College of MedicineHugo J. Bellen, DVM, PhD Understanding the role of IRF2BPL in neurological disease
Baylor College of MedicineLindsay C. Burrage, MD, PhDER stress in TANGO2-related metabolic encephalopathy and arrhythmias
University of IowaLori L. Wallrath, PhDMechanisms of TMEM43 muscle disease
University of MichiganPaul C. Tang, MD, PhDElucidation of the Mechanism of Disease in a TAX1BP3 gene variant associated with human Arrhythmogenic Right Ventricular Cardiomyopathy
University of OregonMonte Westerfield, PhDUndiagnosed Diseases Network Gene Function Study MAST2
Washington University in St. LouisKristen L. Kroll, PhDUsing human pluripotent stem cell models to evaluate pathogenicity and define
disease mechanisms for a ZNF292 variant found in a UDN participant
*Note: some projects have been delayed due to the COVID-19 pandemic