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 has now applied genomic methods to more than 10,000 individuals from rare disease families to hunt for new disease genes. Daniel co-directed the Center alongside Heidi Rehm from 2016-2019. You can learn more about the CMG program here.