Researchers from Trinity College Dublin publishing in BRAIN describes for the first time a model of mitochondrial epilepsy. Mitochondrial disease is one of the most common forms of genetic diseases, affecting one in 9,000 births in Ireland with debilitating consequences. A quarter of patients with mitochondrial disease have epilepsy which is often severe and resistant towards conventional antiepileptic drugs. Currently no animal models are available to provide a mechanistic understanding of the condition. The current study has thrown light at the important role that astrocytes play in driving seizure generation in mitochondrial epilepsy. They recreated a novel brain slice model by the application...
Swiss drugmaker Novartis has received US approval for its spinal muscular atrophy gene therapy Zolgensma® (onasemnogene abeparvovec-xioiT) for the treatment of pediatric patients less than 2years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene). The one time treatment drug is priced at a record $2.125m. Novartis executives have defended the price, saying a one-time treatment is more valuable than expensive long-term treatments that cost several hundred thousand dollars a year. Zolgensma® is designed to address the genetic root cause of SMA by providing a functional copy of the human SMN gene...