UW Medicine physician/scientist Danny E. Miller has received a competitive National Institutes of Health Director’s Early Independence Award, which provides up to $1.25 million over 5 years. Miller is an assistant professor of pediatrics, Division of Genetic Medicine, and of laboratory medicine and pathology at the University of Washington School of Medicine.

The award, a part of the NIH’s High-Risk, High-Reward Research Program, supports early-career scientists who have the intellect, creativity, drive, and maturity to lead an independent research program.

Miller’s project is titled Long-Read DNA and RNA Sequencing to Identify Disease-Causing Genetic Variation and Streamline Testing.

Miller uses a recent advance in genome sequencing technology, called long-read sequencing, to improve the process of diagnosing genetic disorders and to explore how changes in DNA and RNA contribute to genetic disease.

Compared to earlier methods, long-read sequencing produces longer DNA or RNA fragments that, when assembled together, provide a clearer picture of structural changes in the genome. This technology can also reveal patterns in the genome that previous approaches missed. For example, long-read sequencing helps scientists better detect repeated sections of DNA and how often they are repeated. The repeats, called copy number variants, can have implications for predicting or diagnosing genetic disorders such as Huntington’s disease or muscular dystrophy.