PacBio and Radboud University Medical Center Team Up for New Discoveries in Rare Disease Research

Rare Daily Staff

PacBio said it is collaborating on a clinical research study with Radboud University Medical Center to explore genetic causes of rare and genetic diseases.

Together with Radboud’s Department of Human Genetics, one of the largest academic centers for human genetics in Europe, PacBio aims to uncover genetic origins of rare and genetic diseases. The study will also explore the feasibility and cost effectiveness of using PacBio’s HiFi sequencing technology as part of routine clinical use.

“Currently, the genetic basis of 50 percent of rare diseases remain unsolved due to lack of accuracy and depth of current testing workflows,” said Christian Henry, president and CEO of PacBio. “We have joined forces with Radboud University Medical Center to better understand this critical gap by using our powerful Revio sequencing systems to identify key variants at scale with extraordinary accuracy. This research not only has the potential to help revolutionize patient care for thousands of individuals each year, but we believe it will also deepen our understanding of the practical application of long-read sequencing technology in routine clinical use.”

Radboudumc scientists are taking on the challenge of solving some of the most puzzling cases of undiagnosed rare diseases using PacBio’s HiFi long-read sequencing technology for whole genome sequencing (WGS). Despite having undergone all standard-of-care methods, including short-read sequencing, these individuals still need answers. By studying the potential consolidation of standard molecular tests into a clinical workflow with PacBio HiFi WGS, the project aims to explore PacBio’s technology as a potential first-line assay, which could pave the way for a more efficient and effective diagnostic process in the future.

Photo: Christian Henry, president and CEO of PacBio