Meet Our Researchers
Beryl Cummings is a graduate student specializing in cutting-edge genomic technologies.
Rare diseases cause enormous suffering, especially among the youngest patients, and diagnoses can take years. This means that patients and families often have to suffer through long periods of pain and uncertainty. Beryl will use a technology called RNA-sequencing, which analyzes genes expressed across tissues, to determine if it can help physicians provide rapid, accurate diagnoses to patients and their families.
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.