Novel sophisticated research tools are providing investigators new ways to explore the genetics of dystonia. Researchers have the ability to quickly sequence individual genes, analyze whole genomes, and analyze gene expression patterns. Individuals and families who volunteer for genetic studies contribute invaluably to research progress.
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A team of investigators led by William Dauer, MD of University of Michigan has made new discoveries about DYT6 dystonia, which affects children. DYT6 dystonia occurs when the body cannot properly produce a protein called THAP1, whose role and function in cells is unknown. Using a mouse model, Dr. Dauer and colleagues discovered that THAP1 is essential for myelination, a process during brain development that forms a protective coating around neurons.
DMRF and Cure Dystonia Now jointly supported a research investigation to explore whether a drug called AZD1446 could potentially provide relief for dystonia patients with fewer side effects than existing medications. Although AZD1446 did not demonstrate therapeutic effects in animal and cell models of DYT1 dystonia, the investigation produced important findings.
Seaman, Tom. (2017). What is Dystonia? Life impact and chronic pain treatment perspectives. Pain-Free Living, p. 49-52.