PacBio and UCLA Health Enter Research Collaboration for Whole Genome Sequencing in Rare Diseases

Genome sequencing biotech and the UCLA Institute for Precision Health and David Geffen School of Medicine at UCLA have formed a research collaboration to further identify the causes of rare diseases.

Photo: Christian Henry, president and CEO of PacBio

The study will leverage PacBio’s HiFi long-read sequencing technology for whole genome sequencing (WGS) to look at undiagnosed pediatric rare disease patients who have already been sequenced with short-read technology.

Stanley Nelson, director of California Center for Rare Diseases, and professor, pathology and laboratory medicine and human genetics, David Geffen School of Medicine at UCLA, will be pioneering the combined use of full-length isoform sequencing (Iso-Seq) and long-read WGS to investigate the effect on diagnostic yield in these unresolved cases.

“For rare disease patients, a genetic diagnosis always provides clarity to the whole family and can mean more effective treatments to avoid long-term complications,” said Nelson. “Within our undiagnosed diseases program at UCLA, approximately 50 percent of the rare disease patients we conduct short-read WGS on will still not have a DNA diagnosis. We hope that the knowledge we gain will allow us to reduce that number and give more families a diagnosis.”

There is growing interest in PacBio’s HiFi sequencing as an important new tool for detecting large or challenging variants missed by short-read sequencing, says Christian Henry, president and CEO of PacBio. “We are proud to use our technology to support UCLA Health in their commitment to solving medical mysteries and helping to potentially reduce the time to diagnosis.”

Author: Rare Daily Staff