Scientists at the HudsonAlpha Institute for Biotechnology in Huntsville, AL, have been awarded a five-year, $2.9 million U.S. National Institutes of Health (NIH) grant to identify genetic contributors to rare diseases in children.
The team will use a sequencing tool called long-read genome sequencing to resequence genomes from individuals who have previously had genome sequencing but received no diagnostic results.
Long-read genome sequencing provides a more comprehensive reading of the genome, allowing researchers to identify genetic variants that traditional sequencing may miss, HudsonAlpha explained in a statement. Results from studies on long-read genome sequencing show that the method can reveal relevant genetic findings in 5% to 10% of previously tested but undiagnosed children.
Moreover, the HudsonAlpha team pointed out that long-read genome sequencing technology is comparatively new and is subject to improvement and refining, with the potential for increased diagnostic accuracy beyond what the current early studies demonstrate.
The HudsonAlpha Genome Sequencing Center, under the direction of Jane Grimwood, PhD, and Jeremy Schmutz, will perform the long-read sequencing on the samples and send them to the Cooper lab at HudsonAlpha, which will analyze the resulting data for potential medically relevant findings.
Under the direction of Greg Cooper, PhD, the Cooper lab has sequenced the genomes of nearly 2,000 children since 2013; more than 40% had a genetic finding that may be relevant to their symptoms.
"Long-read sequencing holds immense promise for uncovering the genetic causes of diseases," Cooper said. "My team and I are passionate about making a difference in the lives of individuals and families affected by rare genetic disorders. By pushing the boundaries of genetic research, we hope to shed light on previously hidden genetic variation and provide more accurate and timely diagnoses. Our goal is to empower families with the knowledge they need to navigate their health challenges and build a better future."
