UCI researchers partner with industry to study rare genetic diseases

Irvine, Calif. — UC Irvine researchers will collaborate with Ambry Genetics and PacBio to study the underlying biology of Mendelian rare diseases.

Mendelian disorders — which include cystic fibrosis, Duchenne muscular dystrophy and other conditions — are caused by mutations on a single gene and often run in families.

“There are a multitude of rare diseases that are difficult to diagnose and do not have effective treatments,” said pediatric geneticist Dr. Eric J. Vilain, director of the UC Irvine Institute for Clinical and Translational Science and associate vice chancellor for clinical and translational science.

“This collaboration will help us identify the underlying causes, particularly in cases where previous genomic testing has fallen short,” added Vilain, a professor of pediatrics with the UCI School of Medicine.

UC Irvine is one of five research centers in the Genomics Research to Elucidate the Genetics of Rare Diseases Consortium, funded by the National Human Genome Research Institute. The collaborative aims to sequence and analyze as many as 7,000 human whole genomes over the next three years to develop an understanding of these rare diseases.

"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," Vilain said.

UCI Health and Children's Health of Orange County (CHOC) are also jointly designated as a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD), a consortium of 31 select U.S. medical centers working to expand access and advance care and research for patients with rare diseases, the companies said in a news release.

Ambry Genetics is a leader in clinical genomic testing and a subsidiary of Realm IDx Inc. PacBio is a major developer of highly accurate sequencing solutions.

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