Rare disease gene discovery

rare disease gene discovery

We develop and apply genomic approaches (especially exome, whole-genome and transcriptome sequencing) and informatic methods to discover disease-causing mutations in severe disease patients, with a particular focus on neuromuscular diseases such as muscular dystrophy. Our tool seqr is an intuitive browser-based system for analyzing exome and genome data from rare disease families.

In January 2016 we were awarded a grant from the NIH’s National Human Genome Research Institute to create a new Center for Mendelian Genomics at the Broad Institute, which will use genomic methods to hunt for new disease genes from over 6,000 rare disease families over the next four years. Daniel co-directs the new Center alongside Heidi Rehm. You can learn more about the CMG program here.

We also run an experimental lab, led by senior scientist Jamie Marshall, focused on developing new cellular models for human muscle disease and applying these to the validation of candidate causal variants and the discovery of new disease biology.