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In one of the largest rare disease genome sequencing projects of its kind, Ambry Genetics and PacBio will work with 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 (PMGRC) program on a new project. 

They will use long-read technology to sequence and analyze up to 7,000 human whole genomes over three years and seek new insights into rare disease etiology.

The GREGoR Consortium is a National Institutes of Health-funded collaborative effort that aims to identify the underlying genetic cause of rare disease in individuals for whom prior genomic analysis did not yield answers. The PMGRC is one of five genomics research centers participating in GREGoR. Ambry, a subsidiary of REALM IDx, is a leading genetic testing firm. PacBio designs, develops, and manufactures advanced sequencing solutions.

The number of rare diseases has been estimated at 10,000 and only about 500 have approved treatments. An estimated 25 to 30 million Americans alone are affected by such conditions.

“There remain a multitude of rare diseases that are difficult to diagnose, and for which effective treatments remain elusive,” said Eric Vilain MD, PhD, director of the Institute for Clinical and Translational Science and the associate vice chancellor for Clinical and Translational Science at UCI. “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.”

The project will incorporate various methods, including phenotyping, variant identification, and functional analysis of both coding and non-coding sequence alterations. By using 5-base, long-read sequencing technology, the researchers hope to discover new rare variants and to understand the role of epigenomics on disease manifestation. Using new analysis pipelines for these genomic and epigenomic data, they aim 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 CEO of PacBio.

He added that, “This project with the GREGoR team represents a significant step forward for us. We hope that by partnering with scientists at UC 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,” he added.

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