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 Insitutes of Health (NIH) Undiagnosed Diseases Program (UDP) (Funding Opportunity Announcement PA-13-076 [grants.nih.gov]). This NIH program is providing administrative supplements to investigate the underlying genetics, biochemistry and physiology of undiagnosed disorders.

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 Intramural Research Program-Undiagnosed Diseases Program (IRP-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 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.

For more information on the administrative supplements and on the diseases of interest to the UDN, please e-mail the following information to genefunction@mail.nih.gov:

  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 to respond.

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Last Updated: January 7, 2013