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US FDA approves world's most expensive drug Zolgensma one-time treatment for SMA

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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 to...
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Trigger region found for absence epileptic seizures

Spike-wave discharges can be seen in the electrocorticograms (ECoGs) from the left and right somatosensory cortices (SSCs) of an Stxbp1+/? mouse. A portion of the spike-wave discharge is expanded in green below. Credit: RIKEN
Kazuhiro Yamakawa and his team at the RIKEN Center for Brain Science (CBS) in Japan has shown that absence epilepsy can be triggered by impaired communication between two brain regions: the cortex and the striatum. The researchers took STXBP1 and SCN2A genes  created mice with one normal gene and one mutated gene -- a condition called haplodeficiency, which is different from a complete knockout. They showed that Spike Wave Discharges (SWD)  can be blocked by drugs than inhibit neurons from exciting each other. The scientists injected a neuronal inhibitor into several brain regions hoping to find which ones were related to the seizures. They found...
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Did Leonardo da Vinci have ADHD?

Leonardo da Vinci produced some of the world’s most iconic art, but historical accounts of his work practices and behaviour show that he struggled to complete projects. Drawing on these accounts, Professor Catani lays out the evidence supporting his hypothesis that, as well as explaining his chronic procrastination, ADHD could have been a factor in Leonardo’s extraordinary creativity and achievements across the arts and sciences. Professor Catani, from the Institute of Psychiatry, Psychology & Neuroscience at King’s, says: ‘While impossible to make a post-mortem diagnosis for someone who lived 500 years ago, I am confident that ADHD is the most convincing...
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ICNA

Innovative prospects in drug development for epilepsy

According to a new study published on April 29 in Neuron, Tel Aviv University researchers identify a homeostatic mechanism that maintains activity set points in neural circuits which ensures the return to a set point after each event that increases or decreases brain activity. The research has raised potential implications for development of drugs to manage a range of neurological and neurodegenerative conditions including epilepsy. Research for the study was conducted by TAU PhD students Boaz Styr and Daniel Zarhin from Prof. Slutsky's team and PhD student Nir Gonen under the joint supervision of Prof. Slutsky and Prof. Eytan Ruppin of the...
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Screening for Fetal Alcohol Spectrum Disorder using Artificial Intelligence

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Scientists at the University of Southern California (USC), Queen's University (Ontario) and Duke University publishing in Frontiers in Neurology describe a new tool that can screen children for fetal alcohol spectrum disorder (FASD) quickly and affordably, making it accessible to more children in remote locations worldwide. The tool uses a camera and computer vision to record patterns in children's eye movements as they watch multiple one-minute videos, or look towards/away from a target, and then identifies patterns that contrast to recorded eye movements by other children who watched the same videos or targets. The eye movements outside the norm were flagged by...
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