Gene Function Studies to Investigate Rare and Undiagnosed Diseases

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


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-14-005 [grants.nih.gov]). 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.
 
NOTE:  There are three (3)  tabs at the bottom of this spreadsheet: 
1. Readme (the key to the gene list)
2. Gene List+info
3. IGVpics

To see all three (3) tabs go to View > New Window.
 
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 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 or NIH-UDP Investigator to respond.

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Last Updated: April 18, 2014