Institute member Daniel MacArthur develops and applies genomic technologies — including exome, whole-genome, and RNA sequencing — to improve the diagnosis of rare Mendelian diseases, with a particular focus on neuromuscular disorders. The lab’s tool xBrowse is an intuitive online portal for exploring exome and whole-genome sequencing data from rare disease families.
Using the latest Broad technology, the MacArthur lab has analyzed the expressed genes from families with severe muscle disease with RNA sequencing. As a result, they successfully diagnosed multiple patients with rare disorders, allowing clinical collaborators to begin designing prenatal tests for these patients’ families to enable them to have healthy additional children. The lab is now expanding this work to many more families.