SINEUPs Technology: A New Route To Treat Haploinsufficiency-Induced Epilepsy
Genetic mutations account for the majority of epilepsies. Recently, a new gene, CHD2, has been highlighted as an important risk factor. All the CHD2 characterized mutations are disruptive, mostly causing reduced protein levels in the brain, and this is thought to contribute to the development of epilepsy. Dr. Biagioli’s recent discovery of a way to increase the expression of target proteins laid the basis of a new technology called SINEUP. This technology holds promise for rescuing disorders associated with protein level reductions as a consequence of genetic mutations. This proposal aims to demonstrate how SINEUP can rescue the protein deficit and treat the disease. This will be the first step towards the development of a new type of therapy to potentially impact many presently incurable genetic diseases with implications beyond CHD2 and epilepsy.