Meet Our Researchers
My colleagues in Daniel MacArthur’s lab have used RNA-sequencing to uncover a previously unknown mutation in a form of muscular dystrophy. This work provided diagnoses for more than 45 patients in need—and established RNA-sequencing as a diagnostic tool in cases where patient muscle tissue is available. These results left us wondering: Could we expand the technique, and test if it could help diagnose patients whose tissue is not available?
With BroadIgnite support, we will bolster the existing RNA-sequencing library of 53 tissue types at the Broad with a new type of RNA-sequencing called long-read RNA-seq. We will then use the combined resulting data to develop a metric that could potentially lead to precise diagnoses, even for patients without tissue available.