HudsonAlpha Advances Genetic Testing with Long-Read Sequencing for Rare Disease Diagnosis

Advancements in genetic sequencing technology are offering new hope for diagnosing genetic disorders. While traditional methods of genome sequencing have improved outcomes for many patients, especially children with genetic diseases, a significant number remain undiagnosed. In response to this challenge, researchers at the HudsonAlpha Institute for Biotechnology have been awarded a five-year, $2.9 million grant from the National Institutes of Health (NIH) to apply long-read genome sequencing in the hopes of identifying previously undetected genetic variants.

Long-read sequencing provides a more detailed view of the genome, allowing for the identification of complex structural variants, such as large deletions and duplications, which may be missed by traditional short-read sequencing. Dr. Greg Cooper and his lab at HudsonAlpha have already sequenced the genomes of nearly 2,000 children, with over 40% showing relevant genetic findings. However, with this new grant, Cooper’s team will re-sequence more than 500 genomes of individuals whose earlier tests yielded no results, aiming to unlock previously hidden genetic information.

Preliminary studies suggest that long-read sequencing could identify relevant findings in an additional 5%-10% of cases. Cooper's team believes that long-read sequencing will uncover structural variants linked to rare diseases, helping provide more accurate diagnoses for many undiagnosed children. This project will also include sequencing the genomes of patients' parents to better understand shared or novel genetic variations.

Collaborating with Dr. Jane Grimwood and Dr. Jeremy Schmutz, who co-direct the HudsonAlpha Genome Sequencing Center, Cooper’s team will leverage the latest genomic technologies to push the boundaries of genetic research. The goal is to improve diagnostic rates for pediatric diseases and provide affected families with crucial information to navigate their health challenges.