Great news from the rare disease community: the European research program SOLVE-RD has chosen SMRT Sequencing technology to help reveal the genetic mechanisms responsible for these tough-to-diagnose genetic diseases. As part of this work, scientists will sequence more than 500 whole human genomes with the PacBio Sequel II System to pinpoint disease-causing variants.
The SOLVE-RD research program, a consortium of more than 20 institutions funded with a five-year, €15 million award from the European Union’s Horizon 2020 initiative, aims to improve the diagnosis and treatment of rare diseases by applying novel tools to cases that were not solved with short-read exome sequencing.
In a press release issued today, Alexander Hoischen, Associate Professor for Genomic Technologies and Immuno-Genomics and a member of the SOLVE-RD team at Radboud University Medical Center, stated: “Even with exome sequencing, as many as 50% of rare disease cases remain unsolved. The SOLVE-RD team believes that long-read SMRT Sequencing will be essential for discovering the causal elements that have proven elusive with previous approaches, and we anticipate that this research will ultimately make it easier for doctors to diagnose other patients with these rare diseases in the future.”
The sequencing will be performed at Radboud University Medical Center. Marcel Nelen, Laboratory Specialist in Genome Diagnostics, commented in the press release: “Our team is eager to deploy PacBio’s Sequel II System to generate hundreds of high-quality human genomes for phenotypes very likely to be associated with challenging genomic regions or structural variants including repeat expansions. In our experience, SMRT Sequencing reliably detects far more structural variants — including pathogenic variants — than any other sequencing technology.”
Attendees of this week’s AGBT Precision Health meeting in La Jolla, Calif., can learn more about this project from Hoischen’s presentation on Saturday, Sept. 7th, at 10 am PDT.
September 5, 2019 | Rare disease