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NIH Wants Gene Function Studies to Support Undiagnosed Diseases Program

NEW YORK (GenomeWeb News) – The US National Institutes of Health wants to provide further support for efforts to understand the function of genes that may be involved in certain diseases, particularly genes that have recently been identified through its Undiagnosed Diseases Program, the agency said this week. It plans to award up to $150,000 to supplement such efforts next year.

Since it launched in 2008 with the mission of studying the "most puzzling medical cases" that are referred to the NIH Clinical Center, the UDP has received around 6,300 inquiries that have led to the evaluation of 450 patients and the diagnosis of around 100 patients.

NIH sees the combination of genomic and genetic analyses with gene function studies as a way to revolutionize how undiagnosed diseases are studied by uncovering links between gene defects, patient phenotypes, and diseases.

So far, the UDP has discovered and described two unknown diseases and identified 15 genes that were not previously associated with human disease.

This administrative supplement program aims to support efforts to understand what these genes do in the context of physiology and pathophysiology of the diseases of interest, whether and how genetic variation affects gene expression and function, and whether and how particular genes and their specific variants are involved in disease pathogenesis. Priority will be given to studies seeking to provide new mechanistic insight into gene function that is relevant to the specific disease under study.

Because gene function studies often require interdisciplinary investigations, NIH is encouraging applications from teams from across multiple disciplines, such as genetics, informatics, molecular and cellular biology, biochemistry, pharmacology, and others.

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