Revio to Power Research in Male Infertility and Rare Disease at Münster University Hospital

Rhea-AI Summary

PacBio (NASDAQ: PACB) has announced a collaboration with the University Hospital of Münster to advance male infertility and rare disease research using long-read whole genome sequencing. The university will deploy PacBio's Revio HiFi sequencing system to obtain highly accurate genomic data, particularly for studying the Y chromosome's role in male infertility. This initiative is part of Germany's GenomeDE Modellvorhaben project and will contribute to the International Male Infertility Genomics Consortium.

The University of Münster aims to sequence 500 patients with male infertility over the next year and conduct trio sequencing of rare disease families. The research will support Germany's efforts to integrate genomic medicine into standard patient care and advance understanding of rare diseases, developmental delay, and cancer.

Positive

• Collaboration with University Hospital of Münster expands PacBio's presence in the European market
• Revio system to be used in Germany's national genome initiative, potentially increasing demand
• Research contributions to International Male Infertility Genomics Consortium may lead to broader adoption of PacBio technology
• University of Münster plans to sequence 500 patients with male infertility over the next year, indicating significant usage of PacBio's technology

Negative

• None.

Medical Research Analyst

This collaboration between PacBio and Münster University Hospital marks a significant advancement in male infertility and rare disease research. The deployment of the Revio HiFi sequencing system will provide unprecedented insights into complex genetic issues, particularly those associated with the Y chromosome. This is important because:

• Male infertility has been understudied due to the complexity of the Y chromosome
• The project aims to sequence 500 patients with male infertility over the next year
• It will contribute to Germany's GenomeDE project, advancing research in rare diseases and cancer

The impact on healthcare could be substantial, especially for aging European populations facing declining birth rates. However, it's important to note that while this research is promising, it may take time before it translates into clinical applications.

Tech Expert

PacBio's Revio HiFi sequencing system represents a leap forward in genomic technology. Its key advantages include:

• High accuracy in long-read sequencing, important for complex genetic regions
• Ability to navigate repetitive regions and structural variants in the Y chromosome
• Capability to perform trio sequencing for rare disease families

This technology could potentially revolutionize our understanding of male infertility and rare diseases. However, the real test will be in the system's performance and the quality of data it produces over time. While promising, it's important to monitor how effectively this technology translates into actionable insights for medical professionals and patients.

Market Research Analyst

This collaboration positions PacBio strategically in the European genomics market:

• First deployment of long-read whole genome sequencing in a German translational research and diagnostic setting
• Contribution to Germany's national genome initiative
• Potential for international impact through the International Male Infertility Genomics Consortium

For investors, this represents significant market expansion potential for PacBio in Europe. However, it's important to consider that the genomics market is highly competitive and rapidly evolving. While this partnership is promising, long-term success will depend on the tangible results produced and PacBio's ability to maintain its technological edge in the face of emerging competitors.

Highly Accurate Long-Read Sequencing Data from Revio will Support Germany’s National Genome Initiative and Provide Data to the International Male Infertility Consortium

MENLO PARK, Calif., Sept. 04, 2024 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced a collaboration with the University Hospital of Münster, to use long-read whole genome sequencing to significantly advance male infertility and rare disease research. By deploying PacBio’s Revio HiFi sequencing system, researchers at Münster will obtain highly accurate genomic data essential for addressing complex genetic issues associated with male infertility, including the Y chromosome.

The announcement follows the opening of the University’s Center of Medical Genetics, which will foster Münster’s role in various fields of genetics including familial breast and ovarian cancer and reproductive genetics. Münster’s Medical Center is the first in Germany to use long-read whole genome sequencing in a translational research and diagnostic setting and owns the first Revio funded by the German healthcare system. The data generated by the Revio will contribute to Germany’s GenomeDE Modellvorhaben project to integrate genomic medicine into standard patient care. The results of this study will also extend beyond Germany, supporting research at the International Male Infertility Genomics Consortium, which has connections with 8 other countries.

“The Revio system will be pivotal in furthering the University of Münster as a leader in medical genetics. Its ability to navigate complex genetic landscapes, particularly in studying the Y chromosome’s role in male infertility, will provide critical insights that were previously unattainable,” said Professor Tüttelmann, Director of The Center of Medical Genetics, University of Münster. “The male Y chromosome has until recently been a mystery due to its repetitive regions and challenging structural variants. The exceptional accuracy and depth of Revio will allow us to begin unravelling the causes of male infertility. Such insight is invaluable for aging European populations, where fewer children are being born and more pressure is being put on health systems.”

The University of Münster will use the Revio to achieve its goal of whole genome sequencing 500 patients with male infertility over the next year. Professor Tüttelmann will also oversee the trio sequencing of rare disease families, where both parents and the affected child are sequenced on the Revio to determine whether disease is carried on the maternal or paternal haplotype. The findings of Münster Clinic’s research will contribute to Germany’s GenomeDE project, which seeks to advance research into the genetic underpinnings of rare diseases, including developmental delay, and cancer.

“Our HiFi technology will unlock deeper genomics insights for Professor Tüttelmann’s research into male infertility and we look forward to seeing how the data will advance this understudied area. Supporting Münster’s new Center of Medical Genetics is an important step in PacBio’s continued growth in Europe, and we’re pleased to support the university in achieving its vision of becoming experts in familial cancer and rare disease,” said Neil Ward, General Manager and Vice President EMEA, PacBio. “These are fields of growing importance for Germany and European healthcare systems, and Münster’s research holds great promise for providing answers for patients internationally. Playing a critical role in such influential projects is key to achieving PacBio’s mission to enable the promise of genomics to better human health.”

For more information about how PacBio is revolutionizing the field of genomics and to explore the capabilities of the Revio HiFi sequencing system, please visit our website at https://www.pacb.com/revio/.

About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops, and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. 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. All statements other than statements of historical fact are forward-looking statements, including statements relating to the uses, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including in connection with the University of Münster’s anticipated use of Revio, its goal of sequencing 500 male infertility patients, and the use of HiFi technology to unlock deeper genomics insights into male infertility and rare diseases; and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, challenges inherent in sequencing a large number of genomes; potential product performance and quality issues; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights; and other risks associated with international operations. Additional factors that could materially affect actual results can be found in PacBio's most recent filings with the Securities and Exchange Commission, including PacBio's most recent reports on Forms 8-K, 10-K, and 10-Q, and include those listed under the caption "Risk Factors." These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect events or circumstances in the future, even if new information becomes available.

Contacts

Investors:
Todd Friedman
ir@pacificbiosciences.com

Media:
pr@pacificbiosciences.com

FAQ

What is the purpose of PacBio's collaboration with the University Hospital of Münster?

The collaboration aims to advance male infertility and rare disease research using PacBio's Revio HiFi sequencing system for long-read whole genome sequencing.

How many patients with male infertility does the University of Münster plan to sequence using PACB's Revio system?

The University of Münster plans to sequence 500 patients with male infertility over the next year using PacBio's Revio HiFi sequencing system.

What is the significance of studying the Y chromosome in male infertility research using PACB's technology?

PacBio's Revio system provides highly accurate genomic data essential for addressing complex genetic issues associated with male infertility, particularly in studying the Y chromosome's role, which has been challenging to analyze due to its repetitive regions and structural variants.

How does the University of Münster's research using PACB's Revio system contribute to Germany's national initiatives?

The research contributes to Germany's GenomeDE Modellvorhaben project, which aims to integrate genomic medicine into standard patient care and advance research into the genetic underpinnings of rare diseases, developmental delay, and cancer.