Meet Our Researchers

BERYL CUMMINGS

Graduate Student, Medical and Population Genetics Program, Broad Institute of MIT and Harvard
Graduate Student, Biomedical and Biological Sciences Program, Harvard Medical School
The Question

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?

The Approach

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.