University of Washington Center for Rare Disease Research

Mendelian conditions are rare disorders caused by sequence changes of the genome. While genes underlying thousands of Mendelian conditions have been identified, there are thousands of Mendelian conditions for which the gene(s) and sequence changes have yet to be discovered. The UW-CRDR collaborates with an extensive network of clinicians and investigators worldwide and applies cutting edge technologies including next generation sequencing, new analytical tools, and data-sharing innovations to discover new sequence changes and gene(s) that underlie Mendelian conditions. Understanding the genetic basis of Mendelian conditions provides the most efficient way to understand the function of the human genome, enables clinical diagnosis of rare disorders, and represents the keystone of the foundation of precision medicine.