There and Back Again: A Case’s Journey through the Undiagnosed Diseases Program

The Undiagnosed Diseases Network will be presented explaining the goals and research efforts of the Network. A summary of the Network and how cases are referred will be reviewed. Using case examples, the benefits of the UDN, the pros and cons of different sequencing strategies, and the agnostic research analysis process will be discussed. Historic NIH-UDP cases will be used to examine when reanalysis versus new data generation is needed for genomic analysis.

Level of Instruction: Basic