Gene Function Studies to Investigate Rare and Undiagnosed Diseases

The content on this web page provides additional information for investigators interested in participating in gene function studies in collaboration with the National Institutes of Health (NIH) Undiagnosed Diseases Network (UDN) (Funding Opportunity Announcement RFA-RM-13-003 []). This NIH program is providing research funding support for smaller-scale or early-stage gene function studies associated with gene variants identified through the Undiagnosed Diseases Network (UDN).

In recent years, gene function studies combined with genetic and genomic analysis and metabolic studies have greatly improved diagnoses of these very rare diseases and advanced scientific knowledge of the underlying pathogenesis. A critical step in the process leading to diagnosis and potential treatment of these rare diseases is the investigation of gene function in order to provide the causal link between the genetic defects and patient phenotypes.

Over the last four years, the NIH Intramural Research Program-Undiagnosed Diseases Program (NIH-UDP) has identified more than 15 gene variants and associated diseases of interest as starting points for gene function studies. Over half of the newly diagnosed diseases from the NIH-UDP involve neurological dysfunction or developmental delay; the remaining phenotypes span metabolic, skeletal and inflammatory disease among others. The current list of these genes and the diseases of interest to the Undiagnosed Diseases Network (UDN) is provided in the list below.

Gene Function Collaboration Candidate List Microsoft Excel file
December 4, 2012

For more information on the diseases of interest to the UDN, availability of patient bio-specimens and other resources for gene function studies, or to discuss scientific and technical issues prior to submission of an application please e-mail the following information to

  1. Name, Title, Affiliation, Address, Phone Number, E-mail Address.
  2. Objectives of inquiry and the nature of the questions that you need answered.
This information will help NIH direct the request to the appropriate Program Officer or NIH-UDP Investigator to respond.

Microsoft Excel icon To view the MS Excel spreadsheet on this page, you will need MS Excel. You can download a free copy of the latest version of Excel Viewer from Microsoft.

Last Updated: May 16, 2013