There are few treatment options for orphan conditions, which affect only small numbers of patients. But scientists are zeroing in on particular genes to develop therapies that may give some hopeRead More
A recent CURE-funded grant has taken a step forward in the search for therapeutic mechanisms to combat Dravet syndrome, a type of epilepsy that is currently difficult to treat and has no known cure. A CURE-funded team has discovered that RNA-stimulators have the capability of fully restoring functionality to the Scn1a gene (in rodents), which may in turn prevent or reverse the symptoms of Dravet syndrome.
CURE researcher Dr. Antonello Mallamaci of the Scuola Internazionale Superiore di Studi Avanzati is leading the team that seeks to restore functionality to Scn1a, by creating “Scn1a-stimulating RNA devices” to stimulate Scn1a activity.
The team sees great potential in being able to use these devices to compensate for the reduction in Scn1agene functionality. Next steps include plans to test these RNA-stimulators in the Dravet syndrome mouse that has similar symptoms to humans with Dravet syndrome and in human tissue from individuals with Dravet syndrome. There are also plans to create a specialized “tool” called a viral vector that can deliver these RNA-stimulators directly into affected brain areas, pushing this research ever closer to achieving a viable human therapy.
Dravet syndrome is a rare epilepsy that begins in infancy, is lifelong and often leads to developmental disability. It is most often caused by a mutation or deletion in the Scn1a gene, a gene that codes for an important sodium channel whose function is essential in normal transmission of electrical signals within the brain., The loss of functionality of this gene can lead to brain activity and hyperexcitability that characterizes seizures and epilepsy.
Through the critical work of researchers like Dr. Mallamaci, new therapeutic approaches for epilepsy are within our reach. This exciting research has been made possible by funding from CURE as we strive ever closer to our goal of producing treatments and cures for epilepsy to achieve “no seizures, no side effects.”
 Wirrel EC. Treatment of Dravet syndrome. Can J Neurol Sci 2016: 43 Suppl 3:S13-18.
 Dravet C. The core Dravet syndrome phenotype. Epilepsica 2011; 52(2):3-9.
 Marini C, Scheffer IE, Nabbout R, et al. The genetics of Dravet syndrome. Epilepsia 2011; Suppl 2:24-9
 Meisler MH, Kearney JA. Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest 2005; 115(8): 2010-2017.
 Chopra R, Isom LL. Untangling the Dravet syndrome seizure network: The changing face of a rare genetic epilepsy. Epilepsy Curr 2014; 14(2):86-89.
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A very exciting FOXG1 RESEARCH UPDATE: We have raised the funds for our second research project! Please meet Dr. Soo-Kyung Lee.
The most incredible part of this story is that Dr. Lee is not only a leading scientist, but she is also a FOXG1 mom to her daughter, Yuna.
Dr. Lee will be using various FOXG1 mouse models to understand the impact of loss of FOXG1 in different types of neurons.
Every proposal we fund is vetted and then approved by our Scientific Advisory Board and is part of our Path to a Cure. Please see our website for details on Dr. Lee's project, as well as the three other scientists we still need to raise funds for on our Funding Goals page.
Thank you to all our incredible donors. And to our family and friends who have donated online. Thank you to employees of #Cisco, #Google, #Microsoft, and #Apple who donated as part of the company match. It is you who is making this possible. We are just starting our path to a cure and we have a lot more fundraising to do, but we are certainly one big step in the right direction.
Meet Dr. Soo-Kyung Lee…
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