October 18, 2019 -- The National Center for Advancing Translational Sciences (NCATS) and the All of Us Research Program (both part of the NIH) announced a $7 million award to HudsonAlpha Institute for Biotechnology, Huntsville, Alabama to evaluate the use of leading-edge DNA sequencing technologies. The funds will hopefully improve diagnosis and treatment in a variety of diseases.

"All of Us will provide one of the world's most robust platforms for precision medicine research, with a broad range of data to drive new discoveries," said Eric Dishman, All of Us director. "Through this partnership with NCATS, we'll be able to offer approved researchers an even greater depth of genetic information than originally planned, making the resource even more valuable for them and the diverse communities we seek to help."

The organization plans to use the fund to test long-read whole-genome sequencing technologies to generate genetic data on about 6,000 samples from participants of different backgrounds. This type of sequencing includes alterations of genetic structure (duplication, deletion or rearrangements...) that standard sequencing technologies can not capture. Researchers are seeking to understand how these genetic alterations impact health and disease so that they can identify targeted interventions and improve therapies.

"Because long-read sequencing can reveal genetic changes associated with rare diseases, this project is an opportunity to assess and potentially refine the technology for advancing research across the many diseases for which there is no treatment," said Christopher P. Austin, M.D., NCATS director. "This project illustrates the power of data and technology to accelerate the translation of knowledge into improved health."

The HudsonAlpha team brings expertise in large-scale sequencing and genetic studies focused on inherited disorders such as diabetes, cancer, schizophrenia, degenerative neurological disease, and amyotrophic lateral sclerosis (ALS). These research efforts will provide the community with the largest collection of genomic structural variation data and clinical data ever produced.

"We look forward to collaborating with the other All of Us genome centers and the rest of the consortium on this exciting effort," said Shawn Levy, PhD, head of HudsonAlpha. "Contributing long-read sequencing data to reveal additional structural variants will enable the scientific community to study human diversity on a tremendous scale. Appreciating the impacts of all types of genetic variation will further unravel the genetic, environmental and behavioral influences of health."


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