In a collaboration with Ambry Genetics and PacBio, UC Irvine is working to further research on Mendelian rare diseases. These types of disorders, such as cystic fibrosis and Duchenne muscular dystrophy, are caused by mutations on a single gene and often have a genetic component within families. Dr. Eric Vilain, a professor at UC Irvine, highlighted the challenges in diagnosing and treating these rare diseases that currently have limited treatment options.
By joining forces with Ambry Genetics and PacBio, the collaboration aims to uncover the underlying causes of these diseases, especially in cases where previous genomic testing has been unsuccessful. Ambry Genetics is renowned for its expertise in clinical genomic testing and is a subsidiary of Realm IDX Inc. PacBio is a leading developer of highly accurate sequencing solutions. Together, these organizations bring unique perspectives and technologies to the partnership, helping to advance the understanding of Mendelian rare diseases and potentially paving the way for new treatment options in the future.
UC Irvine is one of five research centers participating in the Genomics Research to Elucidate the Genetics of Rare Diseases Consortium, which is supported by the National Human Genome Research Institute. The consortium aims to investigate rare diseases at a molecular level and develop new treatments for them.
Dr. Vilain stated that Mendelian rare diseases are difficult to diagnose because they are caused by mutations on a single gene that may not be detected through conventional genomic testing methods. The collaboration with Ambry Genetics and PacBio will enable researchers at UC Irvine to use cutting-edge sequencing technologies to identify these mutations more accurately.
Ambry Genetics’ expertise in clinical genomic testing will allow researchers at UC Irvine to validate their findings using real-world patient samples. PacBio’s high-accuracy sequencing solutions will provide researchers with detailed information about each mutation found.
The partnership between UC Irvine, Ambry Genetics, and PacBio brings together three leading organizations in genomics research and technology development. By working together, they hope to make significant strides in understanding Mendelian rare diseases and developing new treatments for them.
In conclusion, this partnership between UC Irvine, Ambry Genetics
