Skip to main content
Premium Trial:

Request an Annual Quote

Pacific Biosciences, UCLA Collaborate on Rare Disease Diagnostics

NEW YORK – Pacific Biosciences said on Tuesday that it has formed a collaboration with researchers at the University of California, Los Angeles to sequence patients with rare, undiagnosed, pediatric diseases.

The partners will study the effect of combining PacBio's HiFi long-read whole-genome sequencing and RNA isoform sequencing (Iso-Seq) on diagnostic yield in rare disease cases. They will look at patients who have already been sequenced with short-read technology. Stanley Nelson, director of the California Center for Rare Diseases and a professor at UCLA's David Geffen School of Medicine, will lead the study.

"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," Nelson said in a statement. "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."

The study is the latest collaboration for PacBio around rare disease diagnostics, but the first to explicitly include RNA isoform sequencing. The firm is running separate collaborations on WGS-based rare disease diagnostics with Children's Mercy Kansas City and Rady Children's Institute for Genomic Medicine.

Menlo Park, California-based PacBio is also working with Invitae on WGS-based testing for pediatric epilepsy and a clinical WGS platform.

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find gene regulatory network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.