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Summer 2020 - Myotonic Dystrophy DM - Charles Thornton, MD
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"With drug development for myotonic dystrophy 1 (DM1) progressing rapidly, "access to genetic testing could become a significant bottleneck"."
Charles Thornton, M.D., Saunders Family Distinguished Professor in Neuromuscular Research at the University of Rochester Medical Center, has been awarded an MDA restricted research grant of $49,953 for one year to make improvements in technology for genetic testing of DM1, a relatively common form of muscular dystrophy.
Current genetic testing methods for individuals with DM1 are expensive, labor intensive, have limited throughput, and lack the precision needed to determine the size of the expanded CTG repeat. Dr. Thornton is developing a novel method of genetic analysis that is simple, amenable to high throughput, and able to determine repeat expansion sizes. This technology could be important for rapidly identifying the many thousands of people in the U.S. that will require genetic testing when treatments for DM1 are approved.
Grantee: Sequence Analysis of Myotonic Dystrophy - Charles Thornton, MD
Grant type: Restricted Research Grant
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