Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers for Families Battling Rare Diseases

Rhea-AI Summary

Ambry Genetics and PacBio (PACB) have announced a collaboration with the University of California, Irvine (UCI) and the GREGoR Consortium to support the Pediatric Mendelian Genomics Research Center program. This initiative aims to sequence up to 7,000 human genomes over three years, focusing on rare diseases. The research will leverage long-read sequencing technology to uncover new genetic variants and enhance understanding of disease biology. The collaborative effort is expected to provide insights that could revolutionize diagnostic capabilities for rare diseases.

Positive

• Collaboration to sequence up to 7,000 human genomes, enhancing research scale.
• Focus on rare diseases with potential breakthroughs in diagnostics and treatment.
• Utilization of advanced long-read sequencing technology for higher accuracy.
• Three-year timeline indicates sustained research commitment.
• Partnership with UCI enhances credibility and access to academic resources.
• Potential for discovering new Mendelian gene variations and categorizing unknown variants.

Negative

• No immediate financial gains mentioned for shareholders.
• High research costs associated with sequencing 7,000 genomes.
• Potential delays in research outcomes impacting short-term investor expectations.

Insights

Medical Research Analyst

This collaboration between Ambry Genetics and PacBio marks a significant advancement in rare disease research, specifically in the field of pediatric Mendelian genomics. The use of 5-base, long-read sequencing technology will address limitations faced by traditional genomic analysis methods. This technology enhances the accuracy and comprehensiveness of genomic data, which is pivotal for identifying rare genetic variants and understanding their role in disease manifestation. For retail investors, the collaboration indicates a strategic push towards cutting-edge genomic innovations, potentially improving diagnostic capabilities and patient outcomes. Investors should monitor the progress of this collaboration for any breakthroughs that could enhance the technological credibility and market position of both companies.

Tech expert

PacBio's long-read sequencing technology aims to provide unparalleled accuracy in genome sequencing, a important aspect for diagnosing rare diseases. This technology not only enhances variant detection but extends to include non-coding regions and epigenomics, areas often overlooked by short-read sequencing. This comprehensive approach could reduce the diagnostic odyssey faced by many families, making PacBio a notable player in the genomics space. The partnership could lead to the development of new analysis pipelines, which may become standard in the industry. Investors should consider the potential for this technology to be adopted widely, possibly translating into increased revenue streams for PacBio.

Financial Analyst

This collaboration places both Ambry Genetics and PacBio in a strong position within the genomics market, particularly in the niche of rare disease diagnostics. Given the project's scope—sequencing up to 7,000 genomes—there are substantial opportunities for future revenue growth. Additionally, the funding from National Institutes of Health provides financial stability for the project, mitigating some risks. Investors should consider the long-term financial benefits of being part of such an ambitious and high-profile research endeavor. The successful completion of the project could lead to further collaborations and increased market share for both companies.

Consortium Selects Leading Genomics Companies to Support Pediatric Mendelian Genomics Research Center Program

ALISO VIEJO, Calif. and MENLO PARK, Calif., May 15, 2024 /PRNewswire/ --Ambry Genetics, a prominent leader in clinical genomic testing and a subsidiary of REALM IDx, Inc., along with PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced their companies' selection by the University of California, Irvine (UCI) and the GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) to support the Pediatric Mendelian Genomics Research Center (MGRC) program to better understand the underlying biology of rare diseases.

The GREGoR Consortium is a National Institutes of Health-funded collaborative effort which aims to transform the landscape of Mendelian disease research by identifying the underlying genetic cause of rare disease in samples from individuals for whom prior genomic analysis did not yield answers. This ambitious research, among the largest programs of its kind, will use long-read sequencing technology to sequence and analyze up to 7,000 human whole genomes over three years, with a focus on developing new insights into rare disease etiology.

 "There remain a multitude of rare diseases that are difficult to diagnose, and for which effective treatments remain elusive," said Eric Vilain M.D., Ph.D., director of the Institute for Clinical and Translational Science and the associate vice chancellor for Clinical and Translational Science at UCI. "Our research endeavors aim to shed light on these complexities, revealing insights that legacy technologies struggle to uncover. Collaborating with our partners at Ambry Genetics and PacBio, we are poised to enhance our comprehension of rare diseases and in the future revolutionize diagnostic capabilities. This collaborative effort is designed to offer hope not only to families in our study, but to all families looking to unlock answers for children facing rare diseases."

This pioneering initiative unites leading genomics researchers who will work collaboratively to incorporate innovative methods for understanding the biology of rare disease including phenotyping, variant identification, and functional analysis of both coding and non-coding sequence alterations. By using highly accurate 5-base, long-read sequencing technology, the researchers hope to discover new rare variants and to understand the role of epigenomics on disease manifestation. By building new analysis pipelines for these genomic and epigenomic data, the researchers hope to discover new Mendelian gene variations and to better categorize previously identified variants of unknown significance.

"Over the past few years, we've collaborated with leading genomics researchers around the world to advance the scientific community's understanding of the genomic basis of rare disease," said Christian Henry, President and Chief Executive Officer of PacBio. "This project with the GREGoR team represents a significant step forward for us. We hope that by partnering with scientists at U.C. Irvine and geneticists from Ambry Genetics, we will not only be able to help families better understand the underlying causes of rare disease, but also to identify new analysis pipelines that can speed this process for other labs."

"Through this collaboration, we will continue to advance the scientific community's understanding of rare disease and to support both patients enrolled in this study and others whose exomes were sequenced previously through our Patient for Life program," said Tom Schoenherr, CEO of Ambry Genetics. "This collaboration is an example of our steadfast commitment to excellence in genomics and relentless pursuit of innovation, which has been a driving force behind our work since we launched our first clinical offering for rare disease diagnosis more than 20 years ago."

For more information, visit the GREGoR Consortium.

About Ambry Genetics^®
Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate, and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

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; anticipated number of whole human genomes to be sequenced in the collaboration and related discoveries in rare disease research; 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 whole human genomes, and the difficulty of generating discoveries across various areas of research; unanticipated increases in costs or expenses; interruptions or delays in the supply of components or materials for, or manufacturing of, PacBio products and products under development; 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  

For Ambry Genetics:
Gwen Gordon
Gwen@gwengordonpr.com 

For PacBio:
Investors:
Todd Friedman
ir@pacificbiosciences.com                                  

Media:
pr@pacificbiosciences.com

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SOURCE Pacific Biosciences of California, Inc.

FAQ

What is the collaboration between Ambry Genetics and PacBio about?

The collaboration aims to sequence up to 7,000 human genomes to better understand rare diseases.

How long will the genome sequencing project by PACB and Ambry Genetics last?

The project will last three years.

What technology will be used in the Ambry Genetics and PacBio collaboration?

The collaboration will use long-read sequencing technology.

What is the goal of the collaboration between Ambry Genetics, PacBio, and UCI?

The goal is to uncover new genetic variants and enhance understanding of rare diseases.

Who are the key partners in the rare disease genome sequencing collaboration?

The key partners are Ambry Genetics, PacBio, UCI, and the GREGoR Consortium.