RARE Daily

Ambry and PacBio Selected for GREGoR Consortium Effort to Identify Rare Diseases

May 15, 2024

Rare Daily Staff

The University of California, Irvine and the GREGoR Consortium have selected clinical genomic testing company Ambry Genetics and genome sequencing company PacBio to support the Pediatric Mendelian Genomics Research Center program in its efforts 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.

The research program, among the largest of its kind, will use long-read sequencing technology to sequence and analyze up to 7,000 human whole genomes over three years to develop new insights into the genetic drivers of rare diseases.

Researchers will work collaboratively to incorporate innovative methods for understanding the biology of rare diseases 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.

“There remain a multitude of rare diseases that are difficult to diagnose, and for which effective treatments remain elusive,” said Eric Vilain, director of the Institute for Clinical and Translational Science and the associate vice chancellor for Clinical and Translational Science at the University of California, Irvine. “Our research endeavors aim to shed light on these complexities, revealing insights that legacy technologies struggle to uncover.”

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