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-15-004 []). This NIH program is providing research funding support for smaller-scale or early-stage studies to investigate the underlying genetics, biochemistry and pathophysiology of newly diagnosed diseases in association with the respective gene variant(s) identified through the NIH Intramural Undiagnosed Diseases Program (NIH-UDP) site of the UDN.

Since May, 2008, the NIH-UDP has described two unknown diseases and identified dozens of genes not previously associated with human disease.UDP patients present compelling research questions since clarification of the underlying genetics, biochemistry, cell biology and physiology of these disorders will lead to a better understanding of their disease processes and those of related disorders.  Investigation of function of the suspected abnormal allele is a critical step in the process leading to diagnosis and potential treatment of patients with these rare diseases. These studies provide the causal link between the genetic defects and patient phenotypes. Over half of the UDP newly diagnosed diseases involve neurological dysfunction or developmental delay; the remaining phenotypes span metabolic, skeletal and inflammatory disease among others. A current list of UDP Diseases of Interest and the associated gene variant(s) linked to these diseases is provided in the list below.

Gene Function Collaboration Candidate ListMicrosoft Excel file(14.5 KB) New
April 20, 2015
Investigators are strongly encouraged to review the specific detailed information available on these spreadsheets about each gene, variant and associated human phenotype. For more information on the 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: April 20, 2015