The National Institutes of Health’s All of Us Research Program has selected the HudsonAlpha Institute for Biotechnology in Huntsville, Ala., to evaluate the use of DNA sequencing technologies that could someday improve diagnosis and treatment of many diseases, both common and rare.
The NIH’s National Center for Advancing Translational Sciences (NCATS) is funding the project with $7 million over one year.
With this award, the nonprofit HudsonAlpha said it would use long-read whole genome sequencing technologies to generate genetic data on about 6,000 samples from participants of different backgrounds. Long-read sequencing analyzes DNA in larger segments than standard (short-read) sequencing technologies, exposing genetic variations that may otherwise go undetected. These variations include different types of alterations to the genetic structure, such as duplication, deletion or rearrangement of the building blocks that uniquely make up one’s genome and set it apart from others. Everyone has thousands of these genetic variations, most with little known effect. However, researchers are learning more about how some genetic variants underlie certain health conditions or, conversely, increase disease resistance. Understanding the genetic underpinnings of health and disease will help researchers identify more targeted interventions in the future.
This project will allow researchers to better determine the value of long-read sequencing and its strengths and limitations in exploring more elusive parts of the genome. Combined with the 1 million whole genome sequences the program already plans to deliver over the next several years, this additional infusion of genetic information will provide the research community with the largest collection of genomic structural variation data and clinical data ever produced.
The HudsonAlpha team, led by Shawn Levy, Ph.D., brings significant experience in large-scale sequencing projects and in genetic studies on inherited disorders as well as complex conditions, including autism, diabetes, cancer, schizophrenia, degenerative neurological disease and amyotrophic lateral sclerosis (ALS).
“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, in a statement. “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.”
Dishman recently announced he will transition to a role as chief innovation officer, as the search for a new director begins. At the time, he noted that the change also represents the evolution of the program from a start-up to a more established organization with an emphasis on enhancing the All of Us experience for participants and researchers alike.