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NIH to Fund Sequencing Core for Undiagnosed Diseases Program

NEW YORK (GenomeWeb News) – The National Institutes of Health plans to provide $5 million in funding over the next few years to create a DNA sequencing core facility that will support its Undiagnosed Diseases Program.

NIH launched the UDP in 2008 with the expectation that new genetics and genomics approaches could make it possible to identify, study the characteristics of, and develop new ways to manage and treat previously undiagnosed diseases. Last year, NIH said that it committed $145 million to fund the program and its network of investigators over a seven-year period.

NIH said on Wednesday that it now plans to provide $800,000 in 2014 and $1.4 million per-year between 2015 and 2017 to fund a DNA sequencing core facility that will provide a range of services to the investigators in the Undiagnosed Diseases Network (UDN) who are tackling these cases, which represent the "most puzzling" problems seen at the NIH Clinical Center.

The core facility will provide a centralized DNA sequencing shop to support the UDN, and it will increase the availability of diagnostic services, provide data and protocols to the broader research community, and foster collaborations between labs and clinical investigators.

This core will provide exome and genome sequencing and CLIA variant validation to support research into the etiology of these undiagnosed diseases, and it will collect and share high-quality sequence data. It also will provide raw sequence results as quickly as possible, within a two-week turnaround time, and expects to sequence and estimated 3,300 exomes and/or genomes over the next four years.

The facility also will participate in collaborative research across multiple sites and core labs with investigators who are seeking to understand the pathophysiology of these new and rare diseases.

NIH added that it plans to establish a network coordinating center several months before it selects new clinical sites and the DNA sequencing core this fall, which will contain all of the clinical and sequencing data.