Charles Thornton
University of Rochester, NY·Medicine & Clinical Research
Myotonic dystrophy is an inherited disease that steadily weakens muscles and affects many other body systems. It comes in two forms, type 1 (DM1) and type 2 (DM2), and both are caused by a toxic RNA.
- Fields
Medicine & Clinical Research
Genetics
Neuroscience
- Topics
myotonic dystrophy
RNA toxicity
CUG repeat
- Grants
- 1 known grant, through Dec 2026
What they work on
- Optimize myoaspiration, a less invasive way of drawing small muscle samples that allows repeated sampling of several muscles, and show that it is feasible in patients with myotonic dystrophy types 1 and 2.
- Develop and validate a new targeted RNA sequencing assay that measures misspliced RNAs in both DM1 and DM2, designed to work on small myoaspirate samples and to give precise readouts of drug action in muscle fibers.
- Evaluate the new splicing assay first on muscle samples already stored in the lab's BioBank, then on newly collected myoaspirates from DM1 and DM2 patients, comparing strongly affected muscles with relatively spared ones.
More about the research
Patients' cells make RNA molecules carrying thousands of repeated short sequences (CUG repeats in DM1, CCUG repeats in DM2). These repeats trap proteins that control alternative splicing, the step that cuts and joins RNA pieces into a finished message. As a result, RNAs that build key parts of skeletal muscle are processed incorrectly. Many drug programs now aim to reduce this RNA toxicity, so they need a reliable way to tell whether a treatment is reaching muscle and working.
Why it matters
Myotonic dystrophy currently has no effective treatment, though many drugs are in development. A pharmacodynamic biomarker is a lab test showing that a drug is having its intended effect in muscle. A practical, repeatable test of this kind could speed up clinical trials and support drug approval. After approval, it could also help researchers compare drugs, dosing schedules and combinations for people with DM1 and DM2.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Darko Bosnakovski
University of Minnesota, MN·Genetics
Test whether transient DUX4 expression in the inducible iDUX4pA;HSA mouse model causes lasting changes in muscle physiology and histology (tissue structure) after the gene is switched off.
Matteo Ruggiu
St. John's University-New York, NY·Neuroscience
Test whether alternatively spliced exons of CaV3.1, a voltage-gated calcium channel, are used differently across neuron types in the brain, using an RNAseq bioinformatics pipeline that compares splicing across neuronal subclasses.
Dawn Chandler
Ohio State University, OH·Biochemistry
Identify the RNA sequences and the protein and RNA nuclear factors that regulate MDM2 alternative splicing to produce MDM2-ALT1, a p53-activating isoform, using splice regulation assays and gene editing.
The school
University of Rochester: 38 labs on PI Pages, $492M a year on research, 308 research doctorates a year.
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