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UCI researchers partner with industry to study rare genetic diseases

May 30, 2024
Dr. Eric J. Vilain is a UCI Health pediatric geneticist and director of the uci Institute for Clinical and Translational Science.
"This collaboration will help us identify the underlying causes, particularly in cases where previous genomic testing has fallen short," said Dr. Eric J. Vilain. Photo for UCI School of Medicine

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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UCI Health is the clinical enterprise of the University of California, Irvine, and the only academic health system based in Orange County. UCI Health is comprised of its main campus, UCI Medical Center, a 459-bed, acute care hospital in in Orange, Calif., four hospitals and affiliated physicians of the UCI Health Community Network in Orange and Los Angeles counties and ambulatory care centers across the region. Listed among America’s Best Hospitals by U.S. News & World Report for 23 consecutive years, UCI Medical Center provides tertiary and quaternary care and is home to Orange County’s only National Cancer Institute-designated comprehensive cancer centerhigh-risk perinatal/neonatal program and American College of Surgeons-verified Level I adult and Level II pediatric trauma centergold level 1 geriatric emergency department and regional burn center. UCI Health serves a region of nearly 4 million people in Orange County, western Riverside County and southeast Los Angeles County. Follow us on FacebookInstagramLinkedIn and Twitter.