UC Irvine, industry collaboration aims to boost health outcomes for rare diseases

UC Irvine will collaborate with Ambry Genetics and PacBio to advance Mendelian rare disease research. These disorders, which include conditions such as cystic fibrosis and Duchenne muscular dystrophy, 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 Dr. Eric Vilain, UC Irvine professor of pediatrics, director of the 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.” 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. 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.