Ring14 syndrome is a rare genetic disorder associated with severe drug-resistant epilepsy, but the exact cause of epilepsy is still unknown. Dr. Talkowski and his team propose to create a complete map of structural genetic changes, DNA methylation patterns (changes to DNA that can determine whether genes are turned on or off), and gene expression changes in Ring14 syndrome. They hope to identify which specific genes or groups of genes, or their expression patterns are likely responsible for the severe seizures. This is an important step towards developing targeted treatments in the future. They also propose to share their data with other scientists to help advance research in this field.
In partnership with Ring14 USA.
