Spectrum Health, MSU researchers apply genomic sequencing to rare diseases research

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National Institutes of Health awarded a $2.1 million grant to East Lansing-based Michigan State University researchers to leverage EHR data to discover new treatments for rare diseases, according to a Dec. 9 Michigan Live report.

MSU is teaming up with Grand Rapids, Mich.-based Spectrum Health for the five-year research project. The research will focus on adapting approved medications to treat other rare diseases, called orphan diseases. An orphan disease affects less than 200,000 people in the U.S.; the researchers aim to find new treatments for about 6,000 orphan diseases, according to the report.

Through the partnership, the organizations will also use an additional $867,000 grant to fund "innovative uses" of EHRs from the Spectrum Health – MSU Alliance. The research team will use a next generation sequencing approach to match molecular and genomic characteristics of rare diseases against the EHR databases to show which of the existing compounds act on certain characteristics.

"Every drug has a unique fingerprint," said Bin Chen, PhD, assistant pediatrics and human development professor at MSU, according to the publication. "Then we can match disease fingerprints to individual drug fingerprints."

The research project will initially focus on three diseases: multiple organ dysfunction syndrome, diffuse intrinsic pontine glioma brain tumor and a type of liver cancer called hepatocellular carcinoma.

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