Collaboration Aims to Identify Variants Not Easily Detectible by Short-Read Sequencing, Increasing Diagnostic Yield in Rare Disease Patients
MENLO PARK, Calif., Dec. 07, 2021 (GLOBE NEWSWIRE) — PacBio (Nasdaq: PACB), a leading provider of high-quality, highly accurate sequencing platforms, 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.
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.
Dr. Stanley Nelson, Director, 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 in an effort 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,” explained 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.”
“We are excited to see the growing interest in PacBio’s HiFi sequencing as an important new tool for detecting large or challenging variants missed by short-read sequencing,” said 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.”
To learn more about the benefits of HiFi sequencing in rare disease visit https://www.pacb.com/research-focus/human/rare-disease/.
About PacBio
Pacific Biosciences of California, Inc. (NASDAQ: PACB) is empowering life scientists with highly accurate long-read sequencing. The company’s innovative instruments are based on Single Molecule, Real-Time (SMRT®) Sequencing technology, which delivers a comprehensive view of genomes, transcriptomes, and epigenomes, enabling access to the full spectrum of genetic variation in any organism. Cited in thousands of peer-reviewed publications, PacBio® sequencing systems are in use by scientists around the world to drive discovery in human biomedical research, plant and animal sciences, and microbiology. For more information, please visit www.pacb.com and follow @PacBio.
PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.
Forward-Looking Statements
This press release may contain “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995, including statements relating to PacBio’s collaboration with UCLA Health to further identify causes of rare disease; anticipated efforts and outcomes in connection with such collaboration; and interest in and anticipated capabilities of PacBio’s products and technology, including in connection with the detection of genomic variants and helping to potentially reduce the time to diagnosis. Readers are cautioned not to place undue reliance on these forward-looking statements and any such forward-looking statements are qualified in their entirety by reference to the following cautionary statements. All forward-looking statements speak only as of the date of this press release and are based on current expectations and involve a number of assumptions, risks and uncertainties that could cause the actual results to differ materially from such forward-looking statements. Readers are strongly encouraged to read the full cautionary statements contained in the Company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Forms 8-K, 10-K, and 10-Q. The Company disclaims any obligation to update or revise any forward-looking statements.
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