Rare Brain Disorders Nexus

Rett syndrome is a genetic neurodevelopmental disorder that affects the way the brain develops, causing progressive loss of movement and cognition. It also primarily affects females. <br><br>RareNet researchers have located a dysfunctional brain circuit that is responsible for the condition’s motor deficits. They are now refining a powerful therapy — which could be the first treatment for the rare disorder — that can repair this circuit to reverse movement loss in Rett syndrome.

Prion diseases are a group of rare, fatal, neurodegenerative disorders caused by an accumulation of abnormal proteins in the brain called prions. There are no effective treatments for these disorders.<br><br>By forging a cutting-edge molecular tool, RareNet teams have devised a method that reduces prion protein levels to slow its toxic accumulation. This approach is bringing the researchers closer to therapies for these devastating diseases, a strategy that could also be used to treat many other rare brain conditions.

Sturge-Weber syndrome is caused by an uncommon genetic mutation in the GNAQ gene, which leads to the formation of abnormal blood vessels. This disrupts blood flow in the skin, eyes, and brain, leading to symptoms such as seizures and developmental delays. <br><br>RareNet scientists are exploring systems that target the genetic source of Sturge-Weber as potential treatment strategies.

Several neurodevelopmental disorders have been linked to mutations in the SYNGAP1 gene, including epilepsy and autism spectrum disorder. These mutations stunt levels of the gene’s encoded protein — crucial to the growth of neurons and their signaling. <br><br>RareNet labs are honing a CRISPR-based approach that boosts the expression of the SYNGAP1 gene and its protein to unlock precise treatments for an array of developmental conditions.